#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
POTEG	404785	broad.mit.edu	37	14	19562088	19562088	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:19562088A>G	ENST00000409832.3	+	4	957	c.905A>G	c.(904-906)gAt>gGt	p.D302G	RNU6-1239P_ENST00000391310.1_RNA|CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	302										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCACTGGATAGATATGGA	0.328																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(904-906)gAt>gGt		POTE ankyrin domain family, member G							13.0	13.0	13.0					14																	19562088		1179	1378	2557	SO:0001583	missense	404785							g.chr14:19562088A>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.905A>G	14.37:g.19562088A>G	ENSP00000386971:p.Asp302Gly						p.D302G	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			4	957	+			302					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.905A>G	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	11.13	1.547450	0.27652	.	.	ENSG00000222036	ENST00000409832	T	0.61274	0.12	1.54	1.54	0.23209	Ankyrin repeat-containing domain (4);	0.190488	0.24833	U	0.035235	T	0.72953	0.3525	M	0.86953	2.85	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.59783	-0.7389	10	0.72032	D	0.01	.	5.2251	0.15389	1.0:0.0:0.0:0.0	.	302	Q6S5H5	POTEG_HUMAN	G	302	ENSP00000386971:D302G	ENSP00000386971:D302G	D	+	2	0	POTEG	18632088	0.519000	0.26242	0.004000	0.12327	0.025000	0.11179	2.397000	0.44477	0.967000	0.38186	0.155000	0.16302	GAT		0.328	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		17	3	0	0	0	1	0	17	3				
SPANXD	64648	broad.mit.edu	37	X	140785749	140785749	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:140785749C>T	ENST00000370515.3	-	2	500	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	56						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AAAGTTCCTCCTGTAGCGAAC	0.488																																						ENST00000370515.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(166-168)aGg>aAg		SPANX family, member D							238.0	181.0	200.0					X																	140785749		2202	4288	6490	SO:0001583	missense	64648							g.chrX:140785749C>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.167G>A	X.37:g.140785749C>T	ENSP00000359546:p.Arg56Lys						p.R56K	NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1					2	500	-	Acute lymphoblastic leukemia(192;7.65e-05)							Q5JWI1	Missense_Mutation	SNP	ENST00000370515.3	37	c.167G>A	CCDS14675.1	.	.	.	.	.	.	.	.	.	.	N	4.657	0.122232	0.08931	.	.	ENSG00000196406	ENST00000370515	T	0.09350	2.99	.	.	.	.	.	.	.	.	T	0.06188	0.0160	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41910	-0.9482	6	0.23891	T	0.37	.	.	.	.	.	56	Q9BXN6	SPNXD_HUMAN	K	56	ENSP00000359546:R56K	ENSP00000359546:R56K	R	-	2	0	SPANXD	140613415	0.011000	0.17503	0.008000	0.14137	0.011000	0.07611	0.064000	0.14437	0.431000	0.26258	0.068000	0.15388	AGG		0.488	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			6	169	0	0	0	1	0	6	169				
KLHDC7A	127707	broad.mit.edu	37	1	18809173	18809173	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:18809173G>A	ENST00000400664.1	+	1	1750	c.1698G>A	c.(1696-1698)acG>acA	p.T566T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	566						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGCTCACGGGGATCTGGA	0.667																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1696-1698)acG>acA		kelch domain containing 7A							11.0	14.0	13.0					1																	18809173		2171	4274	6445	SO:0001819	synonymous_variant	127707					integral to membrane		g.chr1:18809173G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1698G>A	1.37:g.18809173G>A							p.T566T	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	1750	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	566					Q8N8W6	Silent	SNP	ENST00000400664.1	37	c.1698G>A	CCDS185.2																																																																																				0.667	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		15	29	0	0	0	1	0	15	29				
POTEH	23784	broad.mit.edu	37	22	16279207	16279207	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr22:16279207T>C	ENST00000343518.6	-	4	1067	c.1016A>G	c.(1015-1017)gAt>gGt	p.D339G	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	339										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCATATCTATCCAGTGCATT	0.318																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(1015-1017)gAt>gGt		POTE ankyrin domain family, member H																																				SO:0001583	missense	23784							g.chr22:16279207T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1016A>G	22.37:g.16279207T>C	ENSP00000340610:p.Asp339Gly						p.D339G	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			4	1067	-			339					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.1016A>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	11.36	1.615587	0.28801	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.61274	0.12	1.38	1.38	0.22167	Ankyrin repeat-containing domain (4);	0.190488	0.24833	U	0.035235	T	0.69468	0.3114	M	0.78344	2.41	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.993;0.998	T	0.55736	-0.8094	10	0.62326	D	0.03	.	4.9438	0.13978	0.0:0.0:0.0:1.0	.	339;302	Q6S545;A6NKF6	POTEH_HUMAN;.	G	302;339	ENSP00000340610:D339G	ENSP00000340610:D339G	D	-	2	0	POTEH	14659207	0.144000	0.22641	0.007000	0.13788	0.033000	0.12548	2.026000	0.41069	0.890000	0.36211	0.147000	0.16070	GAT		0.318	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		15	258	0	0	0	1	0	15	258				
SLC9A1	6548	broad.mit.edu	37	1	27440680	27440680	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:27440680G>A	ENST00000263980.3	-	2	1025	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SLC9A1_ENST00000374086.3_Silent_p.G150G|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	150					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)	p.G150G(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGGGTGTCTCGCCTACACCCT	0.617																																						ENST00000263980.3																			1	Substitution - coding silent(1)	p.G150G(1)	endometrium(1)	central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(448-450)ggC>ggT		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						64.0	63.0	63.0					1																	27440680		2203	4300	6503	SO:0001819	synonymous_variant	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27440680G>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.450C>T	1.37:g.27440680G>A						SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Silent_p.G150G	p.G150G	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	2	1025	-			150					B1ALD6|D3DPL4|Q96EM2	Silent	SNP	ENST00000263980.3	37	c.450C>T	CCDS295.1																																																																																				0.617	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		28	40	0	0	0	1	0	28	40				
SSTR4	6754	broad.mit.edu	37	20	23017075	23017075	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr20:23017075C>T	ENST00000255008.3	+	1	1019	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	319					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACAACTTCCGCCGATTCTT	0.587																																					Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(955-957)Cgc>Tgc		somatostatin receptor 4							85.0	91.0	89.0					20																	23017075		2199	4300	6499	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017075C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.955C>T	20.37:g.23017075C>T	ENSP00000255008:p.Arg319Cys					RP4-753D10.3_ENST00000440921.1_RNA	p.R319C	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	1019	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		319					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.955C>T	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701640	0.30142	.	.	ENSG00000132671	ENST00000255008	T	0.58358	0.34	3.65	2.64	0.31445	.	0.000000	0.64402	U	0.000006	T	0.62221	0.2410	L	0.55990	1.75	0.45690	D	0.998607	D	0.89917	1.0	D	0.67231	0.95	T	0.65142	-0.6240	10	0.87932	D	0	.	9.5473	0.39288	0.3639:0.6361:0.0:0.0	.	319	P31391	SSR4_HUMAN	C	319	ENSP00000255008:R319C	ENSP00000255008:R319C	R	+	1	0	SSTR4	22965075	0.071000	0.21146	0.988000	0.46212	0.235000	0.25334	0.158000	0.16422	1.852000	0.53769	0.655000	0.94253	CGC		0.587	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			44	52	0	0	0	1	0	44	52				
ETV3	2117	broad.mit.edu	37	1	157105467	157105467	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:157105467T>A	ENST00000368192.4	-	3	144	c.80A>T	c.(79-81)gAg>gTg	p.E27V	ETV3_ENST00000326786.4_Missense_Mutation_p.E27V|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	27					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGGGGATGACTCTGTTTTGTA	0.527																																						ENST00000368192.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9						c.(79-81)gAg>gTg		ets variant 3							115.0	110.0	112.0					1																	157105467		2203	4300	6503	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105467T>A	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.80A>T	1.37:g.157105467T>A	ENSP00000357175:p.Glu27Val					ETV3_ENST00000326786.4_Missense_Mutation_p.E27V|ETV3_ENST00000460850.1_5'UTR	p.E27V	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN			3	144	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	27					B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.80A>T	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365979	0.82463	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.19806	2.24;2.12	5.32	5.32	0.75619	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.20210	0.0486	L	0.27053	0.805	0.80722	D	1	P;D	0.71674	0.936;0.998	P;D	0.67900	0.69;0.954	T	0.03463	-1.1034	10	0.30854	T	0.27	.	14.5454	0.68027	0.0:0.0:0.0:1.0	.	27;27	P41162-2;P41162	.;ETV3_HUMAN	V	27	ENSP00000357175:E27V;ENSP00000327316:E27V	ENSP00000327316:E27V	E	-	2	0	ETV3	155372091	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.891000	0.69782	2.138000	0.66242	0.533000	0.62120	GAG		0.527	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		44	70	0	0	0	1	0	44	70				
MYO9A	4649	broad.mit.edu	37	15	72172772	72172772	+	Silent	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:72172772G>A	ENST00000356056.5	-	29	5998	c.5526C>T	c.(5524-5526)aaC>aaT	p.N1842N	MYO9A_ENST00000424560.1_Silent_p.N1913N|MYO9A_ENST00000444904.1_Silent_p.N1823N|MYO9A_ENST00000564571.1_Silent_p.N1842N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1842	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAAGCCACGTTGCTAATCT	0.438																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(5524-5526)aaC>aaT		myosin IXA							138.0	129.0	132.0					15																	72172772		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72172772G>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.5526C>T	15.37:g.72172772G>A						MYO9A_ENST00000424560.1_Silent_p.N1913N|MYO9A_ENST00000564571.1_Silent_p.N1842N|MYO9A_ENST00000444904.1_Silent_p.N1823N	p.N1842N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			29	5998	-			1842			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.5526C>T	CCDS10239.1																																																																																				0.438	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		45	100	0	0	0	1	0	45	100				
C7	730	broad.mit.edu	37	5	40955639	40955639	+	Missense_Mutation	SNP	A	A	G	rs370190257		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:40955639A>G	ENST00000313164.9	+	10	1603	c.1244A>G	c.(1243-1245)cAa>cGa	p.Q415R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	415	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				AATCTTCCTCAAGTCATAAAA	0.413																																						ENST00000313164.9																			0											c.(1243-1245)cAa>cGa		complement component 7		A	ARG/GLN	0,3712		0,0,1856	89.0	87.0	88.0		1244	1.4	0.0	5		88	1,8205		0,1,4102	no	missense	C7	NM_000587.2	43	0,1,5958	GG,GA,AA		0.0122,0.0,0.0084	benign	415/844	40955639	1,11917	1856	4103	5959	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40955639A>G	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1244A>G	5.37:g.40955639A>G	ENSP00000322061:p.Gln415Arg						p.Q415R	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			10	1603	+		Ovarian(839;0.0112)	415			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.1244A>G	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	A	0.217	-1.031414	0.02029	0.0	1.22E-4	ENSG00000112936	ENST00000313164;ENST00000440677	D	0.84589	-1.87	5.26	1.36	0.22044	Membrane attack complex component/perforin (MACPF) domain (3);	1.223620	0.05497	N	0.557770	T	0.75064	0.3799	L	0.41415	1.275	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.52305	-0.8593	10	0.14656	T	0.56	2.3304	1.0066	0.01488	0.3614:0.2846:0.2164:0.1376	.	415	P10643	CO7_HUMAN	R	415;255	ENSP00000322061:Q415R	ENSP00000322061:Q415R	Q	+	2	0	C7	40991396	0.003000	0.15002	0.006000	0.13384	0.133000	0.20885	0.764000	0.26532	0.045000	0.15804	0.533000	0.62120	CAA		0.413	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			4	90	0	0	0	1	0	4	90				
NFAT5	10725	broad.mit.edu	37	16	69726213	69726213	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:69726213G>A	ENST00000354436.2	+	12	2749	c.2431G>A	c.(2431-2433)Gtt>Att	p.V811I	NFAT5_ENST00000566899.1_Missense_Mutation_p.V735I|NFAT5_ENST00000393742.2_Missense_Mutation_p.V735I|NFAT5_ENST00000349945.1_Missense_Mutation_p.V735I|NFAT5_ENST00000567239.1_Missense_Mutation_p.V828I|NFAT5_ENST00000432919.1_Missense_Mutation_p.V829I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	811					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTATCTTCAGTTTTATTTTC	0.448																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2203-2205)Gtt>Att		nuclear factor of activated T-cells 5, tonicity-responsive							107.0	107.0	107.0					16																	69726213		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69726213G>A	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.2431G>A	16.37:g.69726213G>A	ENSP00000346420:p.Val811Ile					NFAT5_ENST00000393742.2_Missense_Mutation_p.V735I|NFAT5_ENST00000432919.1_Missense_Mutation_p.V829I|NFAT5_ENST00000354436.2_Missense_Mutation_p.V811I|NFAT5_ENST00000567239.1_Missense_Mutation_p.V828I|NFAT5_ENST00000566899.1_Missense_Mutation_p.V735I	p.V735I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	3755	+			811					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.2203G>A	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656154	0.67586	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.55052	0.54;0.63;0.62;0.63	6.08	6.08	0.98989	.	0.086924	0.48767	D	0.000177	T	0.69931	0.3166	M	0.61703	1.905	0.50813	D	0.999895	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.70716	0.97;0.97;0.97	T	0.60042	-0.7340	10	0.17832	T	0.49	-3.0662	20.6634	0.99662	0.0:0.0:1.0:0.0	.	828;811;829	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	829;828;735;811;735	ENSP00000396538:V829I;ENSP00000338806:V735I;ENSP00000346420:V811I;ENSP00000377343:V735I	ENSP00000338806:V735I	V	+	1	0	NFAT5	68283714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.894000	0.99253	0.655000	0.94253	GTT		0.448	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		44	86	0	0	0	1	0	44	86				
ADCY4	196883	broad.mit.edu	37	14	24787720	24787720	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:24787720G>A	ENST00000310677.4	-	26	3249	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	ADCY4_ENST00000418030.2_Missense_Mutation_p.R1046W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R1046W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1046					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATGACACCCCGGCTGTAGCAG	0.562																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3136-3138)Cgg>Tgg		adenylate cyclase 4							113.0	102.0	106.0					14																	24787720		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24787720G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3136C>T	14.37:g.24787720G>A	ENSP00000312126:p.Arg1046Trp					ADCY4_ENST00000418030.2_Missense_Mutation_p.R1046W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R1046W	p.R1046W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	26	3249	-			1046					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.3136C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032896	0.75504	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.34472	1.36;1.36;1.36	5.52	3.6	0.41247	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.41500	D	0.000873	T	0.75525	0.3861	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85481	0.1179	10	0.87932	D	0	.	12.945	0.58367	0.0:0.0:0.7086:0.2914	.	1046	Q8NFM4	ADCY4_HUMAN	W	1046	ENSP00000312126:R1046W;ENSP00000452250:R1046W;ENSP00000393177:R1046W	ENSP00000312126:R1046W	R	-	1	2	ADCY4	23857560	0.988000	0.35896	0.987000	0.45799	0.945000	0.59286	1.048000	0.30379	1.280000	0.44463	0.655000	0.94253	CGG		0.562	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			27	59	0	0	0	1	0	27	59				
WWP1	11059	broad.mit.edu	37	8	87443690	87443690	+	Silent	SNP	A	A	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:87443690A>C	ENST00000517970.1	+	13	1750	c.1443A>C	c.(1441-1443)acA>acC	p.T481T	WWP1_ENST00000349423.2_Silent_p.T263T|WWP1_ENST00000265428.4_Silent_p.T481T|WWP1_ENST00000341922.2_Silent_p.T351T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	481	WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACACAAAAACAACCCAGTGGG	0.348																																						ENST00000517970.1																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						c.(1441-1443)acA>acC		WW domain containing E3 ubiquitin protein ligase 1							72.0	72.0	72.0					8																	87443690		2203	4300	6503	SO:0001819	synonymous_variant	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87443690A>C	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1443A>C	8.37:g.87443690A>C						WWP1_ENST00000349423.2_Silent_p.T263T|WWP1_ENST00000341922.2_Silent_p.T351T|WWP1_ENST00000265428.4_Silent_p.T481T	p.T481T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN			13	1750	+			481			WW 3.		O00307|Q5YLC1|Q96BP4	Silent	SNP	ENST00000517970.1	37	c.1443A>C	CCDS6242.1																																																																																				0.348	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013		22	67	0	0	0	1	0	22	67				
MRAP2	112609	broad.mit.edu	37	6	84799071	84799071	+	Silent	SNP	G	G	A	rs375536731		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr6:84799071G>A	ENST00000257776.4	+	4	624	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	163					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCATGAAGTTTGACATCC	0.493																																						ENST00000257776.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(487-489)aaG>aaA		melanocortin 2 receptor accessory protein 2		G		0,4406		0,0,2203	123.0	122.0	122.0		489	-0.8	1.0	6		122	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MRAP2	NM_138409.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		163/206	84799071	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	112609				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr6:84799071G>A	AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.489G>A	6.37:g.84799071G>A							p.K163K	NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN			4	624	+			163					A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	ENST00000257776.4	37	c.489G>A	CCDS5001.1																																																																																				0.493	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041367.1	NM_138409		44	58	0	0	0	1	0	44	58				
TANC1	85461	broad.mit.edu	37	2	160050870	160050870	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:160050870G>A	ENST00000263635.6	+	17	3082	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K	TANC1_ENST00000454300.1_Missense_Mutation_p.E843K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	949					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCACGAGGAAGTTGTCAC	0.552																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(2845-2847)Gaa>Aaa		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							73.0	75.0	74.0					2																	160050870		2088	4214	6302	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160050870G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2845G>A	2.37:g.160050870G>A	ENSP00000263635:p.Glu949Lys					TANC1_ENST00000454300.1_Missense_Mutation_p.E843K	p.E949K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			17	3082	+			949					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.2845G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579418	0.96565	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.19532	2.14;2.14	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.28274	0.84	0.80722	D	1	D;D;D	0.76494	0.999;0.993;0.97	D;P;P	0.81914	0.995;0.84;0.846	T	0.15122	-1.0448	10	0.66056	D	0.02	.	19.4918	0.95052	0.0:0.0:1.0:0.0	.	941;843;949	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	K	843;949	ENSP00000396339:E843K;ENSP00000263635:E949K	ENSP00000263635:E949K	E	+	1	0	TANC1	159759116	1.000000	0.71417	0.987000	0.45799	0.968000	0.65278	9.865000	0.99609	2.616000	0.88540	0.558000	0.71614	GAA		0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			25	45	0	0	0	1	0	25	45				
PPP1R26	9858	broad.mit.edu	37	9	138379182	138379182	+	Silent	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr9:138379182C>T	ENST00000356818.2	+	4	3375	c.2826C>T	c.(2824-2826)acC>acT	p.T942T	PPP1R26_ENST00000401470.3_Silent_p.T942T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000604351.1_Silent_p.T942T|PPP1R26_ENST00000605286.1_Silent_p.T942T|PPP1R26_ENST00000605660.1_Silent_p.T942T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	942					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCAGGAGCACCAGCGGCGGTG	0.652																																						ENST00000356818.2																			0											c.(2824-2826)acC>acT		protein phosphatase 1, regulatory subunit 26							31.0	37.0	35.0					9																	138379182		1972	3913	5885	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138379182C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2826C>T	9.37:g.138379182C>T						PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.T942T|PPP1R26_ENST00000401470.3_Silent_p.T942T|PPP1R26_ENST00000605286.1_Silent_p.T942T|PPP1R26_ENST00000604351.1_Silent_p.T942T	p.T942T	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	3375	+			942					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.2826C>T	CCDS6988.1																																																																																				0.652	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		59	53	0	0	0	1	0	59	53				
LPHN2	23266	broad.mit.edu	37	1	82434955	82434955	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:82434955T>C	ENST00000370728.1	+	17	3250	c.2605T>C	c.(2605-2607)Ttc>Ctc	p.F869L	LPHN2_ENST00000394879.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F869L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F869L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.F856L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F856L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F794L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F869L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370730.1_Missense_Mutation_p.F869L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F856L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F869L			O95490	LPHN2_HUMAN	latrophilin 2	869					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATCTTCACCTTCTGCTTTTT	0.393																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2605-2607)Ttc>Ctc		latrophilin 2							306.0	268.0	281.0					1																	82434955		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82434955T>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2605T>C	1.37:g.82434955T>C	ENSP00000359763:p.Phe869Leu					LPHN2_ENST00000370730.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F794L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F856L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F869L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F856L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F856L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F869L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F869L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F856L|LPHN2_ENST00000469377.2_Intron	p.F869L			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	17	3250	+			869					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2605T>C		.	.	.	.	.	.	.	.	.	.	T	25.9	4.680305	0.88542	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.55481	1.735	0.80722	D	1	P;B;P	0.43477	0.521;0.257;0.808	P;B;P	0.46452	0.457;0.147;0.517	T	0.13124	-1.0521	10	0.39692	T	0.17	.	15.1257	0.72481	0.0:0.0:0.0:1.0	.	856;856;856	O95490-3;O95490-4;O95490-2	.;.;.	L	794;869;869;869;869;856;856;856;856;856;869;856;869;869	ENSP00000359756:F794L;ENSP00000359763:F869L;ENSP00000359765:F869L;ENSP00000359762:F869L;ENSP00000359760:F869L;ENSP00000359758:F856L;ENSP00000353006:F856L;ENSP00000359750:F856L;ENSP00000359748:F856L;ENSP00000322270:F856L;ENSP00000359752:F869L;ENSP00000378344:F856L;ENSP00000271029:F869L;ENSP00000337306:F869L	ENSP00000271029:F869L	F	+	1	0	LPHN2	82207543	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.040000	0.89188	1.971000	0.57363	0.477000	0.44152	TTC		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		47	120	0	0	0	1	0	47	120				
LOC150776	150776	broad.mit.edu	37	2	132256505	132256505	+	RNA	SNP	A	A	C	rs3817572	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:132256505A>C	ENST00000438378.2	+	0	478					NR_026922.1																						TGATTAAAGTAATTGAGGATT	0.388													.|||	2568	0.51278	0.6256	0.5331	5008	,	,		20535	0.6845		0.3231	False		,,,				2504	0.364					ENST00000438378.2																			0																																																			0							g.chr2:132256505A>C																													2.37:g.132256505A>C								NR_026922.1						0	478	+									RNA	SNP	ENST00000438378.2	37																																																																																						0.388	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			4	92	0	0	0	1	0	4	92				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	57	0	0	0	1	0	20	57				
MAB21L1	4081	broad.mit.edu	37	13	36049234	36049234	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr13:36049234C>G	ENST00000379919.4	-	1	1598	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	348					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTCAGGATCTCTCTTGCCAGT	0.433																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(1042-1044)Gag>Cag		mab-21-like 1 (C. elegans)							86.0	91.0	89.0					13																	36049234		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049234C>G	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.1042G>C	13.37:g.36049234C>G	ENSP00000369251:p.Glu348Gln					NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	p.E348Q	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1598	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	348					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.1042G>C	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384724	0.42308	.	.	ENSG00000180660	ENST00000379919	T	0.19394	2.15	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.22399	0.0540	L	0.45581	1.43	0.80722	D	1	B	0.28378	0.209	B	0.23275	0.045	T	0.02232	-1.1191	10	0.26408	T	0.33	-14.9806	19.9576	0.97228	0.0:1.0:0.0:0.0	.	348	Q13394	MB211_HUMAN	Q	348	ENSP00000369251:E348Q	ENSP00000369251:E348Q	E	-	1	0	MAB21L1	34947234	1.000000	0.71417	0.965000	0.40720	0.966000	0.64601	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GAG		0.433	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		37	84	0	0	0	1	0	37	84				
LOC101927905	101927905	broad.mit.edu	37	12	8386973	8386973	+	lincRNA	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr12:8386973C>T	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							AGCCAGCCTCCGCAGGACCCC	0.592													.|||	4	0.000798722	0.0008	0.0029	5008	,	,		-128	0.0		0.001	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386973C>T																													12.37:g.8386973C>T														0	793	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.592	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			6	122	0	0	0	1	0	6	122				
ALDH1A3	220	broad.mit.edu	37	15	101425495	101425495	+	Silent	SNP	C	C	T	rs2229182	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:101425495C>T	ENST00000329841.5	+	2	655	c.123C>T	c.(121-123)caC>caT	p.H41H	ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000346623.6_Silent_p.H41H	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	41					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	ATGAATGGCACGAATCCAAGA	0.348																																						ENST00000329841.5																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27						c.(121-123)caC>caT		aldehyde dehydrogenase 1 family, member A3	NADH(DB00157)|Vitamin A(DB00162)						96.0	95.0	96.0					15																	101425495		2203	4300	6503	SO:0001819	synonymous_variant	220				retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	g.chr15:101425495C>T	U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.123C>T	15.37:g.101425495C>T						ALDH1A3_ENST00000346623.6_Silent_p.H41H|ALDH1A3_ENST00000560555.1_3'UTR	p.H41H	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		2	655	+	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		41					Q6NT64	Silent	SNP	ENST00000329841.5	37	c.123C>T	CCDS10389.1																																																																																				0.348	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313620.2			18	36	0	0	0	1	0	18	36				
ABCA13	154664	broad.mit.edu	37	7	48335325	48335325	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr7:48335325A>C	ENST00000435803.1	+	21	9008	c.8984A>C	c.(8983-8985)aAt>aCt	p.N2995T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2995					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCTCGCCGAATCAGCTAAAT	0.393																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(8983-8985)aAt>aCt		ATP-binding cassette, sub-family A (ABC1), member 13							126.0	128.0	127.0					7																	48335325		1884	4111	5995	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48335325A>C	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.8984A>C	7.37:g.48335325A>C	ENSP00000411096:p.Asn2995Thr						p.N2995T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			21	9008	+			2995					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.8984A>C	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	3.856	-0.030893	0.07543	.	.	ENSG00000179869	ENST00000435803	D	0.85339	-1.97	5.49	-11.0	0.00169	.	1.492070	0.04181	N	0.326422	T	0.68495	0.3007	N	0.24115	0.695	0.09310	N	1	B;B	0.13594	0.0;0.008	B;B	0.11329	0.001;0.006	T	0.57934	-0.7725	10	0.48119	T	0.1	.	2.9173	0.05757	0.1247:0.3813:0.1301:0.3639	.	697;2995	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	T	2995	ENSP00000411096:N2995T	ENSP00000411096:N2995T	N	+	2	0	ABCA13	48305871	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.781000	0.01774	-3.324000	0.00187	-0.290000	0.09829	AAT		0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		43	93	0	0	0	1	0	43	93				
SIPA1L2	57568	broad.mit.edu	37	1	232538163	232538163	+	Missense_Mutation	SNP	C	C	T	rs368811235		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:232538163C>T	ENST00000366630.1	-	21	5355	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1666Q|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R722Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1666					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGGAGTTGTCGAAGAATTAA	0.393																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(4996-4998)cGa>cAa		signal-induced proliferation-associated 1 like 2		C	GLN/ARG	0,3692		0,0,1846	139.0	131.0	134.0		4997	5.5	0.4	1		134	2,8180		0,2,4089	no	missense	SIPA1L2	NM_020808.3	43	0,2,5935	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging	1666/1723	232538163	2,11872	1846	4091	5937	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232538163C>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4997G>A	1.37:g.232538163C>T	ENSP00000355589:p.Arg1666Gln					SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R722Q|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1666Q	p.R1666Q			Q9P2F8	SI1L2_HUMAN			21	5355	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	1666					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.4997G>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.350912	0.61183	0.0	2.44E-4	ENSG00000116991	ENST00000366630;ENST00000262861;ENST00000308942	T;T;T	0.35048	1.33;1.33;1.33	5.47	5.47	0.80525	.	0.063176	0.64402	D	0.000006	T	0.51109	0.1655	L	0.58101	1.795	0.34667	D	0.723291	D;D	0.64830	0.994;0.976	P;P	0.53450	0.726;0.587	T	0.61148	-0.7121	10	0.59425	D	0.04	-5.1055	19.5817	0.95469	0.0:1.0:0.0:0.0	.	1666;722	Q9P2F8;Q9P2F8-2	SI1L2_HUMAN;.	Q	1666;1666;722	ENSP00000355589:R1666Q;ENSP00000262861:R1666Q;ENSP00000309102:R722Q	ENSP00000262861:R1666Q	R	-	2	0	SIPA1L2	230604786	1.000000	0.71417	0.384000	0.26145	0.096000	0.18686	3.703000	0.54808	2.850000	0.98022	0.650000	0.86243	CGA		0.393	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		20	24	0	0	0	1	0	20	24				
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	rs190057031	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													T|||	19	0.00379393	0.0038	0.0072	5008	,	,		9587	0.001		0.006	False		,,,				2504	0.002					ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(34-36)Agc>Ggc		SMG1 phosphatidylinositol 3-kinase-related kinase							3.0	5.0	4.0					16																	18937330		1189	3103	4292	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18937330T>C	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.34A>G	16.37:g.18937330T>C	ENSP00000402515:p.Ser12Gly					SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G	p.S12G			Q96Q15	SMG1_HUMAN			1	446	-			12			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.34A>G	CCDS45430.1	56	0.02564102564102564	34	0.06910569105691057	10	0.027624309392265192	3	0.005244755244755245	9	0.011873350923482849	t	16.40	3.112756	0.56398	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01252	5.1;5.1	4.19	4.19	0.49359	.	0.256528	0.31134	N	0.008187	T	0.00144	0.0004	N	0.19112	0.55	0.30658	N	0.754677	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.72032	D	0.01	.	6.7847	0.23668	0.0:0.1536:0.0:0.8464	.	12	Q96Q15	SMG1_HUMAN	G	12	ENSP00000402515:S12G;ENSP00000374118:S12G	ENSP00000374118:S12G	S	-	1	0	SMG1	18844831	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	2.875000	0.48491	1.749000	0.51849	0.374000	0.22700	AGC		0.736	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		3	13	0	0	0	1	0	3	13				
LCN1	3933	broad.mit.edu	37	9	138413373	138413373	+	Silent	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr9:138413373T>C	ENST00000263598.2	+	1	90	c.30T>C	c.(28-30)ctT>ctC	p.L10L	LCN1_ENST00000371781.3_Silent_p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	10					negative regulation of endopeptidase activity (GO:0010951)|proteolysis (GO:0006508)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|sensory perception of taste (GO:0050909)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.L10L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		CCGTCAGCCTTGGCCTCATTG	0.667																																						ENST00000263598.2																			2	Substitution - coding silent(2)	p.L10L(2)	large_intestine(1)|endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13						c.(28-30)ctT>ctC		lipocalin 1																																				SO:0001819	synonymous_variant	3933				proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	g.chr9:138413373T>C		CCDS6991.1	9q34	2011-11-14	2011-11-01		ENSG00000160349	ENSG00000160349		"""Lipocalins"""	6525	protein-coding gene	gene with protein product	"""Von Ebner gland protein"", ""tear lipocalin"", ""lipocalin 1-like 2"", ""tear prealbumin"""	151675	"""lipocalin 1 (protein migrating faster than albumin, tear prealbumin)"", ""lipocalin 1 (tear prealbumin)"""			8276406	Standard	NM_002297		Approved	VEGP, TP, PMFA, MGC71975, TLC	uc022bpk.1	P31025	OTTHUMG00000020908	ENST00000263598.2:c.30T>C	9.37:g.138413373T>C						LCN1_ENST00000371781.3_Silent_p.L10L	p.L10L	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)	1	90	+		Myeloproliferative disorder(178;0.0511)	10					Q5T8A1	Silent	SNP	ENST00000263598.2	37	c.30T>C	CCDS6991.1																																																																																				0.667	LCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054992.1	NM_002297		4	48	0	0	0	1	0	4	48				
C19orf25	148223	broad.mit.edu	37	19	1481915	1481915	+	5'Flank	SNP	C	C	T	rs145279692		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:1481915C>T	ENST00000436106.2	-	0	0				C19orf25_ENST00000588427.1_5'Flank|C19orf25_ENST00000427685.2_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000585675.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.R704H|C19orf25_ENST00000588849.1_5'Flank|CTB-25B13.6_ENST00000585643.1_RNA|C19orf25_ENST00000591027.1_5'Flank			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGGCAGCGGTGGTGGGG	0.711																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(2110-2112)cGc>cAc		proprotein convertase subtilisin/kexin type 4		C	HIS/ARG	3,4379		0,3,2188	15.0	18.0	17.0		2111	-3.4	0.0	19	dbSNP_134	17	0,8562		0,0,4281	no	missense	PCSK4	NM_017573.3	29	0,3,6469	TT,TC,CC		0.0,0.0685,0.0232	benign	704/756	1481915	3,12941	2191	4281	6472	SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1481915C>T	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1481915C>T	Exception_encountered						p.R704H	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_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)	15	2172	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	704					B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	c.2111G>A	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298080	0.23650	6.85E-4	0.0	ENSG00000115257	ENST00000300954	T	0.70164	-0.46	3.73	-3.36	0.04913	Growth factor, receptor (1);	.	.	.	.	T	0.42517	0.1206	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.20438	-1.0275	9	0.21540	T	0.41	.	3.7635	0.08613	0.255:0.3608:0.0:0.3842	.	704	Q6UW60	PCSK4_HUMAN	H	704	ENSP00000300954:R704H	ENSP00000300954:R704H	R	-	2	0	PCSK4	1432915	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.876000	0.00717	-0.161000	0.10983	0.313000	0.20887	CGC		0.711	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		8	16	0	0	0	1	0	8	16				
ALDH7A1	501	broad.mit.edu	37	5	125885898	125885898	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:125885898G>A	ENST00000409134.3	-	15	1624	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R405C|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R432C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	469					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CCAAGCCAGCGAAAGATTCTG	0.348																																						ENST00000409134.3																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.(1405-1407)Cgc>Tgc		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						106.0	105.0	105.0					5																	125885898		2203	4300	6503	SO:0001583	missense	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125885898G>A	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1405C>T	5.37:g.125885898G>A	ENSP00000387123:p.Arg469Cys					ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R432C|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R405C	p.R469C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	15	1624	-		all_cancers(142;0.24)|Prostate(80;0.081)	469					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Missense_Mutation	SNP	ENST00000409134.3	37	c.1405C>T	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951390	0.73787	.	.	ENSG00000164904	ENST00000409134;ENST00000553117;ENST00000447989;ENST00000437170	T;T;T	0.78924	-1.22;-1.22;-1.22	4.59	4.59	0.56863	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.051244	0.85682	D	0.000000	D	0.90611	0.7056	M	0.93507	3.425	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.66847	0.947;0.924	D	0.93040	0.6456	10	0.72032	D	0.01	.	17.543	0.87853	0.0:0.0:1.0:0.0	.	432;469	E7EPT3;P49419	.;AL7A1_HUMAN	C	469;405;432;277	ENSP00000387123:R469C;ENSP00000448593:R405C;ENSP00000414132:R432C	ENSP00000387123:R469C	R	-	1	0	ALDH7A1	125913797	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.355000	0.66046	2.552000	0.86080	0.561000	0.74099	CGC		0.348	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		22	61	0	0	0	1	0	22	61				
TRPA1	8989	broad.mit.edu	37	8	72946552	72946552	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:72946552C>A	ENST00000262209.4	-	22	2823	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	872					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAACTGTAGACCTCAACAAAG	0.294																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2614-2616)agG>agT		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						74.0	76.0	75.0					8																	72946552		2203	4298	6501	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72946552C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2616G>T	8.37:g.72946552C>A	ENSP00000262209:p.Arg872Ser					RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron	p.R872S	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		22	2823	-			872					A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2616G>T	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.955293	0.34471	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.32023	1.47;1.47	5.84	1.01	0.19927	Ion transport (1);	0.187139	0.56097	D	0.000022	T	0.36248	0.0960	M	0.69185	2.1	0.39422	D	0.966939	P	0.45283	0.855	P	0.48524	0.58	T	0.12785	-1.0534	10	0.46703	T	0.11	-19.3515	8.8148	0.34989	0.0:0.5273:0.0:0.4727	.	872	O75762	TRPA1_HUMAN	S	724;872	ENSP00000428151:R724S;ENSP00000262209:R872S	ENSP00000262209:R872S	R	-	3	2	TRPA1	73109106	1.000000	0.71417	0.188000	0.23233	0.797000	0.45037	0.559000	0.23485	-0.104000	0.12154	-0.345000	0.07892	AGG		0.294	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		26	34	1	0	7.92952e-12	1	8.59032e-12	26	34				
LPO	4025	broad.mit.edu	37	17	56342147	56342147	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:56342147C>T	ENST00000262290.4	+	10	1647	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L	LPO_ENST00000421678.2_Missense_Mutation_p.P361L|LPO_ENST00000543544.1_Missense_Mutation_p.P385L|LPO_ENST00000582328.1_Missense_Mutation_p.P361L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	444					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGATACCCCCATATCAAGGC	0.478																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1330-1332)cCa>cTa		lactoperoxidase							103.0	103.0	103.0					17																	56342147		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56342147C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1331C>T	17.37:g.56342147C>T	ENSP00000262290:p.Pro444Leu					LPO_ENST00000543544.1_Missense_Mutation_p.P385L|LPO_ENST00000582328.1_Missense_Mutation_p.P361L|LPO_ENST00000421678.2_Missense_Mutation_p.P361L	p.P444L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			10	1647	+			444					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1331C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.798989	0.16397	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.69040	-0.37;-0.37;-0.37	5.95	4.94	0.65067	.	0.341736	0.31809	N	0.007027	T	0.44891	0.1315	L	0.31420	0.93	0.18873	N	0.999983	B;B	0.21520	0.001;0.057	B;B	0.21917	0.002;0.037	T	0.31586	-0.9938	10	0.08599	T	0.76	-10.5889	3.2061	0.06666	0.2196:0.5438:0.1421:0.0945	.	361;444	E7EMJ3;P22079	.;PERL_HUMAN	L	444;361;385;189	ENSP00000262290:P444L;ENSP00000400245:P361L;ENSP00000445344:P385L	ENSP00000262290:P444L	P	+	2	0	LPO	53697146	0.000000	0.05858	0.956000	0.39512	0.384000	0.30261	-0.501000	0.06398	2.824000	0.97209	0.655000	0.94253	CCA		0.478	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			35	47	0	0	0	1	0	35	47				
FEV	54738	broad.mit.edu	37	2	219846970	219846970	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:219846970G>C	ENST00000295727.1	-	3	717	c.136C>G	c.(136-138)Cag>Gag	p.Q46E	LINC00608_ENST00000432733.1_lincRNA	NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	46					cell differentiation (GO:0030154)|neuron fate specification (GO:0048665)|neuron maturation (GO:0042551)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGATCTGTCCGCTGCCT	0.697			T	"""EWSR1,  FUS"""	Ewing sarcoma																																NSCLC(198;941 2228 4658 24163 34665)	ENST00000295727.1				Dom	yes		2	2q36	54738	T	FEV protein - (HSRNAFEV)			M	"""EWSR1,  FUS"""		Ewing sarcoma	EWSR1/FEV(11)|FUS/FEV(2)	0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(136-138)Cag>Gag		FEV (ETS oncogene family)							5.0	6.0	5.0					2																	219846970		2111	4165	6276	SO:0001583	missense	54738				cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:219846970G>C		CCDS2428.1	2q36	2008-02-05			ENSG00000163497	ENSG00000163497			18562	protein-coding gene	gene with protein product		607150	"""FEV (fifth Ewing variant)"""			9121764	Standard	NM_017521		Approved	Pet-1	uc002vji.1	Q99581	OTTHUMG00000133080	ENST00000295727.1:c.136C>G	2.37:g.219846970G>C	ENSP00000295727:p.Gln46Glu						p.Q46E	NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	717	-		Renal(207;0.0474)	46						Missense_Mutation	SNP	ENST00000295727.1	37	c.136C>G	CCDS2428.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641615	0.87859	.	.	ENSG00000163497	ENST00000295727	T	0.55413	0.52	3.59	3.59	0.41128	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (2);	0.000000	0.64402	U	0.000003	T	0.76357	0.3976	M	0.90977	3.165	0.52099	D	0.999942	D	0.53885	0.963	D	0.68621	0.959	T	0.83048	-0.0154	10	0.87932	D	0	.	14.1321	0.65260	0.0:0.0:1.0:0.0	.	46	Q99581	FEV_HUMAN	E	46	ENSP00000295727:Q46E	ENSP00000295727:Q46E	Q	-	1	0	FEV	219555214	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.420000	0.97426	1.849000	0.53698	0.462000	0.41574	CAG		0.697	FEV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256725.1			8	6	0	0	0	1	0	8	6				
SP140	11262	broad.mit.edu	37	2	231150502	231150502	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:231150502G>A	ENST00000392045.3	+	17	1714	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SP140_ENST00000343805.6_Missense_Mutation_p.E474K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K|SP140_ENST00000486687.2_Missense_Mutation_p.E458K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	534					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTCTCCAGTGAAAAGAAGGC	0.458																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1600-1602)Gaa>Aaa		SP140 nuclear body protein							161.0	161.0	161.0					2																	231150502		1862	4096	5958	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231150502G>A	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1600G>A	2.37:g.231150502G>A	ENSP00000375899:p.Glu534Lys					SP140_ENST00000486687.2_Missense_Mutation_p.E458K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K|SP140_ENST00000343805.6_Missense_Mutation_p.E474K	p.E534K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	17	1714	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	534					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1600G>A	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	G	1.233	-0.623552	0.03636	.	.	ENSG00000079263	ENST00000486687;ENST00000350136;ENST00000392045;ENST00000417495;ENST00000343805;ENST00000420434	T;T;T;T;T	0.56611	0.65;0.93;0.73;0.45;0.73	1.58	-1.58	0.08479	.	.	.	.	.	T	0.52058	0.1711	L	0.48642	1.525	0.09310	N	1	P;P;D;B	0.56035	0.956;0.956;0.974;0.279	P;P;D;B	0.70487	0.525;0.899;0.969;0.081	T	0.46871	-0.9160	9	0.02654	T	1	-0.0255	5.0546	0.14525	0.5991:0.0:0.4009:0.0	.	507;420;474;534	E7EUR5;E7ESH9;E9PFJ6;Q13342	.;.;.;LY10_HUMAN	K	458;403;534;420;474;507	ENSP00000440107:E458K;ENSP00000345846:E403K;ENSP00000375899:E534K;ENSP00000342096:E474K;ENSP00000398210:E507K	ENSP00000342096:E474K	E	+	1	0	SP140	230858746	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.659000	0.01975	-0.528000	0.06366	0.306000	0.20318	GAA		0.458	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		51	80	0	0	0	1	0	51	80				
CYP4B1	1580	broad.mit.edu	37	1	47279204	47279204	+	Silent	SNP	C	C	T	rs147120348	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:47279204C>T	ENST00000271153.4	+	5	582	c.546C>T	c.(544-546)tgC>tgT	p.C182C	CYP4B1_ENST00000452782.2_Silent_p.C19C|CYP4B1_ENST00000371919.4_Silent_p.C167C|CYP4B1_ENST00000371923.4_Silent_p.C182C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	182					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	ACATCTTCTGCGATGTGGGTC	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		22030	0.0		0.0	False		,,,				2504	0.002					ENST00000271153.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(544-546)tgC>tgT		cytochrome P450, family 4, subfamily B, polypeptide 1		C	,	0,4406		0,0,2203	120.0	114.0	116.0		546,546	0.0	0.9	1	dbSNP_134	116	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	CYP4B1	NM_000779.3,NM_001099772.1	,	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	,	182/512,182/513	47279204	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47279204C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.546C>T	1.37:g.47279204C>T						CYP4B1_ENST00000371919.4_Silent_p.C167C|CYP4B1_ENST00000452782.2_Silent_p.C19C|CYP4B1_ENST00000371923.4_Silent_p.C182C	p.C182C			P13584	CP4B1_HUMAN			5	582	+	Acute lymphoblastic leukemia(166;0.155)		182					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.546C>T	CCDS542.1																																																																																				0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779		28	36	0	0	0	1	0	28	36				
ZNF256	10172	broad.mit.edu	37	19	58453810	58453810	+	Silent	SNP	T	T	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:58453810T>C	ENST00000282308.3	-	3	562	c.366A>G	c.(364-366)gcA>gcG	p.A122A	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	122					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTTTCCTACATGCCCCGTCTG	0.458																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(364-366)gcA>gcG		zinc finger protein 256							246.0	213.0	224.0					19																	58453810		2203	4300	6503	SO:0001819	synonymous_variant	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453810T>C	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.366A>G	19.37:g.58453810T>C						ZNF256_ENST00000598928.1_3'UTR	p.A122A	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	562	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	122					B2RA92|Q53Y85|Q9BV71	Silent	SNP	ENST00000282308.3	37	c.366A>G	CCDS12966.1																																																																																				0.458	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			50	93	0	0	0	1	0	50	93				
CADM2	253559	broad.mit.edu	37	3	85984926	85984926	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr3:85984926C>G	ENST00000407528.2	+	6	745	c.683C>G	c.(682-684)tCa>tGa	p.S228*	CADM2_ENST00000383699.3_Nonsense_Mutation_p.S237*|CADM2_ENST00000405615.2_Nonsense_Mutation_p.S230*	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	228	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATACACCATCAGTTAAGATT	0.328																																						ENST00000383699.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38						c.(709-711)tCa>tGa		cell adhesion molecule 2							97.0	103.0	101.0					3																	85984926		2203	4297	6500	SO:0001587	stop_gained	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85984926C>G	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.683C>G	3.37:g.85984926C>G	ENSP00000384575:p.Ser228*					CADM2_ENST00000405615.2_Nonsense_Mutation_p.S230*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.S228*	p.S237*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	7	1337	+		Lung NSC(201;0.0148)	228			Ig-like C2-type 2.		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Nonsense_Mutation	SNP	ENST00000407528.2	37	c.710C>G	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384475	0.95967	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.65	5.65	0.86999	.	0.413977	0.27231	N	0.020311	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	13.4181	0.60980	0.0:0.9187:0.0:0.0813	.	.	.	.	X	237;228;230	.	ENSP00000373200:S237X	S	+	2	0	CADM2	86067616	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.807000	0.55591	2.665000	0.90641	0.650000	0.86243	TCA		0.328	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		56	83	0	0	0	1	0	56	83				
TRIP12	9320	broad.mit.edu	37	2	230724205	230724206	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:230724205_230724206insC	ENST00000283943.5	-	3	361_362	c.183_184insG	c.(181-186)gggcagfs	p.Q62fs	TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.Q104fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	62					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTAGGCACCTGCCCCGTTTTTT	0.45																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(181-186)ggaggtfs		thyroid hormone receptor interactor 12																																				SO:0001589	frameshift_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724205_230724206insC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.184dupG	2.37:g.230724209_230724209dupC	ENSP00000283943:p.Gln62fs					TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.G104fs|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.G104fs|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.G104fs	p.G62fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	361_362	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	62					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Frame_Shift_Ins	INS	ENST00000283943.5	37	c.183_184insG	CCDS33391.1																																																																																				0.450	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		7	266						7	266	---	---	---	---
ERICH6	131831	broad.mit.edu	37	3	150421899	150421900	+	5'Flank	INS	-	-	C	rs34009900|rs375533661|rs112656172	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr3:150421899_150421900insC	ENST00000295910.6	-	0	0				RP11-103G8.2_ENST00000475393.1_RNA|FAM194A_ENST00000491361.1_5'Flank|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCTGTCCCTGCTCTTCAGCGT	0.545													C|C|CC|insertion	576	0.115016	0.0121	0.2291	5008	,	,		12181	0.003		0.3181	False		,,,				2504	0.0798					ENST00000475393.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr3:150421899_150421900insC																													3.37:g.150421900_150421900dupC	Exception_encountered					RP11-103G8.2_ENST00000471093.1_RNA								0	20	+									RNA	INS	ENST00000295910.6	37		CCDS3151.2																																																																																				0.545	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257666.1			5	4						5	4	---	---	---	---
STAG3L1	54441	broad.mit.edu	37	7	74991540	74991541	+	RNA	DEL	TT	TT	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr7:74991540_74991541delTT	ENST00000402225.5	+	0	434							P0CL83	ST3L1_HUMAN	stromal antigen 3-like 1 (pseudogene)							nucleus (GO:0005634)											GAGCATGttctttttttttttt	0.411																																						ENST00000402225.5																			0																																																			0					nucleus	binding	g.chr7:74991540_74991541delTT			7q11.23	2013-06-26	2013-06-26		ENSG00000205583	ENSG00000205583			33852	pseudogene	pseudogene			"""stromal antigen 3-like 1"""				Standard	NR_040583		Approved	DKFZP434A0131, STAG3L1P	uc022agf.1	P0CL83	OTTHUMG00000155940		7.37:g.74991550_74991551delTT										P0CL83	ST3L1_HUMAN			0	434	+								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000402225.5	37																																																																																						0.411	STAG3L1-012	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000437242.1	NM_001002840		2	4						2	4	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																												ENST00000333480.2																			3	Deletion - In frame(3)	p.H208delH(3)	upper_aerodigestive_tract(2)|breast(1)	breast(1)|lung(1)|upper_aerodigestive_tract(2)	4						c.(619-624)cat>ca		v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511956delTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	HNSCC(29;0.082)				MAFA_ENST00000528185.1_5'UTR	p.HH207del	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	620_622	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		207			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.621_623delCCA	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		4	2						4	2	---	---	---	---
A1CF	29974	broad.mit.edu	37	10	52596001	52596002	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr10:52596001_52596002insT	ENST00000373993.1	-	4	480_481	c.436_437insA	c.(436-438)accfs	p.T146fs	A1CF_ENST00000374001.2_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000395489.2_Frame_Shift_Ins_p.T139fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.T154fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.T146fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	146	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTCTTTTTGGTTTTTGGGATG	0.446																																						ENST00000395489.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(415-417)caafs		APOBEC1 complementation factor																																				SO:0001589	frameshift_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52596001_52596002insT	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.437dupA	10.37:g.52596006_52596006dupT	ENSP00000363105:p.Thr146fs					A1CF_ENST00000282641.2_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.Q154fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.Q146fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.Q146fs	p.Q139fs	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN			8	811_812	-			146			RRM 2.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Frame_Shift_Ins	INS	ENST00000373993.1	37	c.415_416insA	CCDS7242.1																																																																																				0.446	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		39	103						39	103	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		7	170						7	170	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del					PRB1_ENST00000546254.1_Intron	p.NK168del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	704						7	704	---	---	---	---
ALKBH1	8846	broad.mit.edu	37	14	78161070	78161102	+	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-	rs372795735|rs369190213|rs201927341|rs374787102		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ENST00000216489.3	-	3	449_471	c.434_456delAACAGAGCAAAGAGTTCCTGAGGTAAGTCTTGT	c.(433-456)gaacagagcaaagagttcctgagg>g	p.EQSKEFLR145del	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	145					developmental growth (GO:0048589)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|in utero embryonic development (GO:0001701)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|oxidative demethylation (GO:0070989)|placenta development (GO:0001890)|RNA repair (GO:0042245)	mitochondrion (GO:0005739)|nuclear euchromatin (GO:0005719)	chemoattractant activity (GO:0042056)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATTCTGATTGACAAGACTTACCTCAGGAACTCTTTGCTCTGTTCCCACAGATC	0.403																																						ENST00000216489.3																			0				endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						c.e3+1		alkB, alkylation repair homolog 1 (E. coli)																																				SO:0001630	splice_region_variant	8846				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	X91992	CCDS32127.1	14q24	2014-07-23	2006-02-09	2006-02-09	ENSG00000100601	ENSG00000100601		"""Alkylation repair homologs"""	17911	protein-coding gene	gene with protein product		605345	"""alkB, alkylation repair homolog (E. coli)"""	ALKBH		8600462	Standard	XM_005268165		Approved	hABH, alkB, ABH	uc001xuc.1	Q13686	OTTHUMG00000171542	ENST00000216489.3:c.455+1AACAGAGCAAAGAGTTCCTGAGGTAAGTCTTGT>-	14.37:g.78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT						ALKBH1_ENST00000554097.1_5'UTR	p.145_splice	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)	3	449_471	-			145					Q8TAU1|Q9ULA7	Splice_Site	DEL	ENST00000216489.3	37	c.455_splice	CCDS32127.1																																																																																				0.403	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	NM_006020	In_Frame_Del	8	142						8	142	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	6						3	6	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7573996	7574003	+	Frame_Shift_Del	DEL	AGCTCTCG	AGCTCTCG	-	rs375573770|rs375338359|rs121912662		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:7573996_7574003delAGCTCTCG	ENST00000269305.4	-	10	1213_1220	c.1024_1031delCGAGAGCT	c.(1024-1032)cgagagctgfs	p.REL342fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.REL342fs|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR	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	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.R342fs*3(9)|p.0?(8)|p.E343*(8)|p.R342P(3)|p.L344R(3)|p.L344fs*23(2)|p.R342Q(2)|p.L344P(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.I332fs*5(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)	GGCCTCATTCAGCTCTCGGAACATCTCG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4		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"""		112	Substitution - Nonsense(78)|Deletion - Frameshift(12)|Substitution - Missense(10)|Whole gene deletion(8)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	p.R342*(70)|p.R342fs*3(9)|p.0?(8)|p.E343*(8)|p.R342P(3)|p.L344R(3)|p.L344fs*23(2)|p.R342Q(2)|p.L344P(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.I332fs*5(1)	upper_aerodigestive_tract(18)|breast(17)|lung(12)|large_intestine(10)|central_nervous_system(9)|ovary(9)|liver(5)|skin(5)|pancreas(5)|haematopoietic_and_lymphoid_tissue(4)|oesophagus(4)|bone(4)|urinary_tract(3)|stomach(2)|biliary_tract(2)|peritoneum(1)|kidney(1)|endometrium(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	CM004908|CM961377	TP53	M	rs121912662	c.(1024-1032)gfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7573996_7574003delAGCTCTCG	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.1024_1031delCGAGAGCT	17.37:g.7573996_7574003delAGCTCTCG	ENSP00000269305:p.Arg342fs	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_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.REL342fs|TP53_ENST00000455263.2_3'UTR	p.REL342fs	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		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1213_1220	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	342		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.1024_1031delCGAGAGCT	CCDS11118.1																																																																																				0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	10						16	10	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:76938029delG	ENST00000373344.5	-	9	2933	c.2719delC	c.(2719-2721)cgafs	p.R907fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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						TTAGGAAGTCGATCTCTTAAT	0.418			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Substitution - Nonsense(1)|Unknown(1)	p.?(1)|p.R907*(1)	lung(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.(2719-2721)gafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						189.0	173.0	179.0					X																	76938029		2203	4296	6499	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:76938029delG	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.2719delC	X.37:g.76938029delG	ENSP00000362441:p.Arg907fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs	p.R907fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	2933	-			907					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.2719delC	CCDS14434.1																																																																																				0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		154	38						154	38	---	---	---	---
