#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
SLC35D2	11046	broad.mit.edu	37	9	99126820	99126820	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:99126820T>C	ENST00000253270.7	-	3	267	c.205A>G	c.(205-207)Ata>Gta	p.I69V	SLC35D2_ENST00000375259.4_Missense_Mutation_p.I69V|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375257.1_Missense_Mutation_p.I69V	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	69					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				AGTATCATTATGGTGGCTGCC	0.343																																						ENST00000253270.7																			0				endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12						c.(205-207)Ata>Gta		solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2							112.0	120.0	117.0					9																	99126820		2203	4300	6503	SO:0001583	missense	11046					Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity	g.chr9:99126820T>C	AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.205A>G	9.37:g.99126820T>C	ENSP00000253270:p.Ile69Val					SLC35D2_ENST00000375257.1_Missense_Mutation_p.I69V|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375259.4_Missense_Mutation_p.I69V	p.I69V	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN			3	267	-		Acute lymphoblastic leukemia(62;0.0167)	69					O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	37	c.205A>G	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	T	6.515	0.463243	0.12402	.	.	ENSG00000130958	ENST00000253270;ENST00000375259;ENST00000375257	T;T;T	0.61859	0.74;0.07;0.08	4.68	4.68	0.58851	.	0.123358	0.53938	D	0.000045	T	0.57533	0.2060	L	0.31578	0.945	0.41111	D	0.985744	P;B;B	0.46327	0.876;0.005;0.001	D;B;B	0.64595	0.927;0.016;0.008	T	0.54702	-0.8254	10	0.05351	T	0.99	.	11.7663	0.51933	0.0:0.0:0.0:1.0	.	69;69;69	Q76EJ3-2;Q5VZJ2;Q76EJ3	.;.;S35D2_HUMAN	V	69	ENSP00000253270:I69V;ENSP00000364408:I69V;ENSP00000364406:I69V	ENSP00000253270:I69V	I	-	1	0	SLC35D2	98166641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.312000	0.33574	1.961000	0.56991	0.460000	0.39030	ATA		0.343	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			15	63	0	0	0	1	0	15	63				
PRPF18	8559	broad.mit.edu	37	10	13653622	13653622	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr10:13653622G>C	ENST00000378572.3	+	6	678	c.518G>C	c.(517-519)gGa>gCa	p.G173A		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	173					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CAGGCGCTTGGAGAGTCCTTA	0.433																																						ENST00000378572.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						c.(517-519)gGa>gCa		pre-mRNA processing factor 18							125.0	116.0	119.0					10																	13653622		2203	4300	6503	SO:0001583	missense	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13653622G>C	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.518G>C	10.37:g.13653622G>C	ENSP00000367835:p.Gly173Ala						p.G173A	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN			6	678	+			173					Q5T9P9|Q9BUI9	Missense_Mutation	SNP	ENST00000378572.3	37	c.518G>C	CCDS7100.1	.	.	.	.	.	.	.	.	.	.	G	6.836	0.523470	0.13066	.	.	ENSG00000165630	ENST00000378572;ENST00000417658;ENST00000320054;ENST00000378544	.	.	.	5.5	5.5	0.81552	Prp18 (2);	0.050313	0.85682	D	0.000000	T	0.49047	0.1534	L	0.31804	0.96	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.49523	-0.8931	9	0.02654	T	1	-25.6243	19.3886	0.94570	0.0:0.0:1.0:0.0	.	173	Q99633	PRP18_HUMAN	A	173;167;158;167	.	ENSP00000367824:G158A	G	+	2	0	PRPF18	13693628	1.000000	0.71417	0.991000	0.47740	0.721000	0.41392	8.990000	0.93510	2.583000	0.87209	0.491000	0.48974	GGA		0.433	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1			12	41	0	0	0	1	0	12	41				
ZCCHC2	54877	broad.mit.edu	37	18	60241608	60241608	+	Missense_Mutation	SNP	C	C	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr18:60241608C>A	ENST00000269499.5	+	13	2712	c.2294C>A	c.(2293-2295)gCa>gAa	p.A765E	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A444E	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	765						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGGGAGTCTGCAAATTCAACC	0.478																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2293-2295)gCa>gAa		zinc finger, CCHC domain containing 2							84.0	84.0	84.0					18																	60241608		1941	4122	6063	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241608C>A	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2294C>A	18.37:g.60241608C>A	ENSP00000269499:p.Ala765Glu					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.A444E	p.A765E	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	2712	+			765					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2294C>A	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	C	9.624	1.134576	0.21123	.	.	ENSG00000141664	ENST00000269499	T	0.24538	1.85	5.7	4.8	0.61643	.	0.394429	0.24513	N	0.037864	T	0.13372	0.0324	N	0.24115	0.695	0.09310	N	1	B	0.27559	0.181	B	0.21708	0.036	T	0.27640	-1.0068	10	0.02654	T	1	-0.7875	9.8678	0.41154	0.0:0.7875:0.1406:0.0719	.	765	Q9C0B9	ZCHC2_HUMAN	E	765	ENSP00000269499:A765E	ENSP00000269499:A765E	A	+	2	0	ZCCHC2	58392588	0.003000	0.15002	0.005000	0.12908	0.750000	0.42670	1.849000	0.39318	1.354000	0.45846	0.655000	0.94253	GCA		0.478	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		4	34	1	0	2.56e-06	1	2.8703e-06	4	34				
IGHV1-58	28464	broad.mit.edu	37	14	107078514	107078514	+	RNA	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr14:107078514G>A	ENST00000390628.2	-	0	270									immunoglobulin heavy variable 1-58																		TGCCAACGACGATCCATCCTA	0.522																																						ENST00000390628.2																			0																				103.0	112.0	109.0					14																	107078514		2060	4196	6256			28464							g.chr14:107078514G>A	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078514G>A														0	270	-									RNA	SNP	ENST00000390628.2	37																																																																																						0.522	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		7	113	0	0	0	1	0	7	113				
ZNF648	127665	broad.mit.edu	37	1	182027001	182027001	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:182027001C>T	ENST00000339948.3	-	2	352	c.145G>A	c.(145-147)Gct>Act	p.A49T		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	49					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ACCGGGTCAGCGGTGCCCTCT	0.552																																					NSCLC(71;908 1374 5429 20458 35642)	ENST00000339948.3																			0				breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						c.(145-147)Gct>Act		zinc finger protein 648							91.0	89.0	90.0					1																	182027001		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182027001C>T	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.145G>A	1.37:g.182027001C>T	ENSP00000344129:p.Ala49Thr						p.A49T	NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN			2	352	-			49					B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.145G>A	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505031	0.26949	.	.	ENSG00000179930	ENST00000339948	T	0.08102	3.13	1.95	-1.33	0.09172	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.09310	N	1	B	0.30634	0.288	B	0.19148	0.024	T	0.43261	-0.9402	9	0.07990	T	0.79	.	3.3359	0.07101	0.2011:0.5237:0.0:0.2752	.	49	Q5T619	ZN648_HUMAN	T	49	ENSP00000344129:A49T	ENSP00000344129:A49T	A	-	1	0	ZNF648	180293624	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.300000	0.08243	-0.366000	0.08064	0.655000	0.94253	GCT		0.552	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		19	61	0	0	0	1	0	19	61				
MAD1L1	8379	broad.mit.edu	37	7	2188861	2188861	+	Silent	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr7:2188861G>A	ENST00000406869.1	-	11	1556	c.999C>T	c.(997-999)gaC>gaT	p.D333D	MAD1L1_ENST00000265854.7_Silent_p.D333D|MAD1L1_ENST00000399654.2_Silent_p.D333D|MAD1L1_ENST00000402746.1_Silent_p.D241D			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	333					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		ATCTGGAAAGGTCTTCTGGAG	0.547																																						ENST00000406869.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36						c.(997-999)gaC>gaT		MAD1 mitotic arrest deficient-like 1 (yeast)							94.0	103.0	100.0					7																	2188861		2084	4195	6279	SO:0001819	synonymous_variant	8379				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	g.chr7:2188861G>A	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.999C>T	7.37:g.2188861G>A						MAD1L1_ENST00000399654.2_Silent_p.D333D|MAD1L1_ENST00000402746.1_Silent_p.D241D|MAD1L1_ENST00000265854.7_Silent_p.D333D	p.D333D			Q9Y6D9	MD1L1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)	11	1556	-		Ovarian(82;0.0272)	333					B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Silent	SNP	ENST00000406869.1	37	c.999C>T	CCDS43539.1																																																																																				0.547	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322871.1	NM_003550		6	28	0	0	0	1	0	6	28				
CCDC67	159989	broad.mit.edu	37	11	93104354	93104354	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr11:93104354G>C	ENST00000298050.3	+	7	797	c.697G>C	c.(697-699)Gct>Cct	p.A233P		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	233					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				ACTGAAATCAGCTGTAAATGA	0.368																																						ENST00000298050.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(697-699)Gct>Cct		coiled-coil domain containing 67							64.0	60.0	61.0					11																	93104354		1827	4088	5915	SO:0001583	missense	159989							g.chr11:93104354G>C	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.697G>C	11.37:g.93104354G>C	ENSP00000298050:p.Ala233Pro						p.A233P	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN			7	797	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	233					Q8NEF1|Q96LL7	Missense_Mutation	SNP	ENST00000298050.3	37	c.697G>C	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231680	0.58777	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819	T;T;T	0.47869	2.15;2.15;0.83	5.61	4.7	0.59300	.	0.154543	0.45606	D	0.000360	T	0.57989	0.2091	L	0.56769	1.78	0.35081	D	0.763377	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67725	0.953;0.948;0.953	T	0.63804	-0.6554	10	0.32370	T	0.25	.	8.5133	0.33231	0.2198:0.0:0.7802:0.0	.	233;233;225	Q05D60;E9PJR5;Q6ZRU6	CCD67_HUMAN;.;.	P	233	ENSP00000432111:A233P;ENSP00000298050:A233P;ENSP00000434635:A233P	ENSP00000298050:A233P	A	+	1	0	CCDC67	92744002	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.084000	0.50143	2.650000	0.89964	0.655000	0.94253	GCT		0.368	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		7	16	0	0	0	1	0	7	16				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	ZFHX3_ENST00000397992.5_Silent_p.G2606G|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	34	0	0	0	1	0	4	34				
IDH3A	3419	broad.mit.edu	37	15	78454590	78454590	+	Silent	SNP	C	C	T	rs572923518		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr15:78454590C>T	ENST00000299518.2	+	6	575	c.492C>T	c.(490-492)gtC>gtT	p.V164V	IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Silent_p.V129V|IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000441490.2_Silent_p.V55V	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	164					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						TTGATGGAGTCGTGCAGAGTA	0.552																																						ENST00000299518.2																			0				endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						c.(490-492)gtC>gtT		isocitrate dehydrogenase 3 (NAD+) alpha	NADH(DB00157)						131.0	103.0	112.0					15																	78454590		2196	4293	6489	SO:0001819	synonymous_variant	3419				carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	g.chr15:78454590C>T		CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.492C>T	15.37:g.78454590C>T						IDH3A_ENST00000441490.2_Silent_p.V55V|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Silent_p.V129V	p.V164V	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN			6	575	+			164					D3DW83|Q9H3X0	Silent	SNP	ENST00000299518.2	37	c.492C>T	CCDS10297.1																																																																																				0.552	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289799.4	NM_005530		10	50	0	0	0	1	0	10	50				
PKD1	5310	broad.mit.edu	37	16	2160311	2160311	+	Silent	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr16:2160311G>A	ENST00000262304.4	-	15	5065	c.4857C>T	c.(4855-4857)tcC>tcT	p.S1619S	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Silent_p.S1619S	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1619	PKD 11. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGTCCTGGGCGGAGCCCACCT	0.622																																						ENST00000262304.4																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4855-4857)tcC>tcT		polycystic kidney disease 1 (autosomal dominant)							45.0	47.0	46.0					16																	2160311		2196	4294	6490	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2160311G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4857C>T	16.37:g.2160311G>A						PKD1_ENST00000423118.1_Silent_p.S1619S	p.S1619S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN			15	5065	-			1619			PKD 11.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.4857C>T	CCDS32369.1																																																																																				0.622	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	85	0	0	0	1	0	5	85				
SLFNL1	200172	broad.mit.edu	37	1	41483692	41483692	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:41483692C>T	ENST00000359345.1	-	2	3148	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	SLFNL1_ENST00000372613.2_Missense_Mutation_p.R191Q|SLFNL1_ENST00000439569.2_Missense_Mutation_p.R191Q|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000302946.8_Missense_Mutation_p.R191Q|SLFNL1_ENST00000397197.2_Missense_Mutation_p.R191Q	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	191							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GCCGCTGGGCCGGCCCTGGCA	0.682																																						ENST00000359345.1																			0				endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(571-573)cGg>cAg		schlafen-like 1							13.0	12.0	12.0					1																	41483692		2199	4295	6494	SO:0001583	missense	200172						ATP binding	g.chr1:41483692C>T	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.572G>A	1.37:g.41483692C>T	ENSP00000352299:p.Arg191Gln					SLFNL1_ENST00000439569.2_Missense_Mutation_p.R191Q|SLFNL1_ENST00000302946.8_Missense_Mutation_p.R191Q|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000372613.2_Missense_Mutation_p.R191Q|SLFNL1_ENST00000397197.2_Missense_Mutation_p.R191Q	p.R191Q	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN			2	3148	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	191					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	c.572G>A	CCDS460.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903057	0.33628	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T	0.25414	1.81;1.8;1.81;1.81;1.8	5.24	-3.22	0.05125	.	0.446956	0.18697	N	0.133702	T	0.10294	0.0252	N	0.25647	0.755	0.09310	N	1	B;B	0.25048	0.117;0.026	B;B	0.15870	0.014;0.003	T	0.15578	-1.0432	10	0.23891	T	0.37	-1.8415	0.9958	0.01466	0.1375:0.2944:0.245:0.3232	.	191;191	Q499Z3-3;Q499Z3	.;SLNL1_HUMAN	Q	191	ENSP00000304401:R191Q;ENSP00000361696:R191Q;ENSP00000352299:R191Q;ENSP00000398938:R191Q;ENSP00000380381:R191Q	ENSP00000304401:R191Q	R	-	2	0	SLFNL1	41256279	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-1.424000	0.02448	-0.254000	0.09500	0.561000	0.74099	CGG		0.682	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1	NM_144990		5	12	0	0	0	1	0	5	12				
LRIF1	55791	broad.mit.edu	37	1	111493993	111493993	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:111493993G>C	ENST00000369763.4	-	2	1903	c.1513C>G	c.(1513-1515)Cag>Gag	p.Q505E	LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TCTATGCTCTGGAGGACACTT	0.393																																						ENST00000369763.4																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1513-1515)Cag>Gag		ligand dependent nuclear receptor interacting factor 1							159.0	152.0	154.0					1																	111493993		2203	4299	6502	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111493993G>C	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1513C>G	1.37:g.111493993G>C	ENSP00000358778:p.Gln505Glu					RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	p.Q505E	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN			2	1903	-			505					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.1513C>G	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.439232	0.43326	.	.	ENSG00000121931	ENST00000369763	T	0.32753	1.44	5.09	4.18	0.49190	.	0.581695	0.16613	N	0.206813	T	0.16171	0.0389	L	0.51422	1.61	0.80722	D	1	B	0.25809	0.135	B	0.28305	0.088	T	0.05767	-1.0865	10	0.52906	T	0.07	-0.1462	8.5558	0.33480	0.1012:0.0:0.8988:0.0	.	505	Q5T3J3	LRIF1_HUMAN	E	505	ENSP00000358778:Q505E	ENSP00000358778:Q505E	Q	-	1	0	LRIF1	111295516	0.999000	0.42202	1.000000	0.80357	0.927000	0.56198	2.385000	0.44371	2.757000	0.94681	0.585000	0.79938	CAG		0.393	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		6	134	0	0	0	1	0	6	134				
FOXM1	2305	broad.mit.edu	37	12	2973895	2973895	+	Missense_Mutation	SNP	C	C	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr12:2973895C>A	ENST00000359843.3	-	7	1112	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D	FOXM1_ENST00000537018.1_5'Flank|FOXM1_ENST00000342628.2_Missense_Mutation_p.E348D|FOXM1_ENST00000361953.3_Missense_Mutation_p.E333D	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	348					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TCCGGCGGAGCTCTGGATTCG	0.537																																						ENST00000342628.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24						c.(1042-1044)gaG>gaT		forkhead box M1							173.0	150.0	158.0					12																	2973895		2203	4300	6503	SO:0001583	missense	2305				cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	g.chr12:2973895C>A	Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1044G>T	12.37:g.2973895C>A	ENSP00000352901:p.Glu348Asp					FOXM1_ENST00000361953.3_Missense_Mutation_p.E333D|FOXM1_ENST00000359843.3_Missense_Mutation_p.E348D	p.E348D	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000622)		7	1157	-			348					O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	ENST00000359843.3	37	c.1044G>T	CCDS8515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.069|3.069	-0.191465|-0.191465	0.06299|0.06299	.|.	.|.	ENSG00000111206|ENSG00000111206	ENST00000535350|ENST00000342628;ENST00000361953;ENST00000359843	.|D;D;D	.|0.92752	.|-2.99;-3.1;-3.0	4.95|4.95	1.86|1.86	0.25419|0.25419	.|.	.|0.349077	.|0.31577	.|N	.|0.007415	T|T	0.76285|0.76285	0.3966|0.3966	N|N	0.03608|0.03608	-0.345|-0.345	0.32639|0.32639	N|N	0.520921|0.520921	.|B;B;B;B;B	.|0.06786	.|0.0;0.001;0.001;0.001;0.001	.|B;B;B;B;B	.|0.12837	.|0.001;0.002;0.004;0.002;0.008	T|T	0.67795|0.67795	-0.5578|-0.5578	5|10	.|0.10377	.|T	.|0.69	.|.	7.1924|7.1924	0.25832|0.25832	0.3003:0.3743:0.3254:0.0|0.3003:0.3743:0.3254:0.0	.|.	.|332;348;333;348;348	.|A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.|.;.;.;FOXM1_HUMAN;.	S|D	74|348;333;348	.|ENSP00000342307:E348D;ENSP00000354492:E333D;ENSP00000352901:E348D	.|ENSP00000342307:E348D	A|E	-|-	1|3	0|2	FOXM1|FOXM1	2844156|2844156	0.897000|0.897000	0.30589|0.30589	1.000000|1.000000	0.80357|0.80357	0.726000|0.726000	0.41606|0.41606	-0.459000|-0.459000	0.06728|0.06728	0.626000|0.626000	0.30322|0.30322	0.462000|0.462000	0.41574|0.41574	GCT|GAG		0.537	FOXM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398272.1	NM_021953		11	140	1	0	0.00136819	1	0.00148892	11	140				
KCNJ3	3760	broad.mit.edu	37	2	155711734	155711734	+	Missense_Mutation	SNP	C	C	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:155711734C>A	ENST00000295101.2	+	3	1892	c.1415C>A	c.(1414-1416)cCa>cAa	p.P472Q		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	472					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GATTTGCCACCAAAGCTTCAA	0.443																																						ENST00000295101.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1414-1416)cCa>cAa		potassium inwardly-rectifying channel, subfamily J, member 3	Halothane(DB01159)						36.0	37.0	37.0					2																	155711734		2203	4299	6502	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711734C>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1415C>A	2.37:g.155711734C>A	ENSP00000295101:p.Pro472Gln						p.P472Q	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN			3	1892	+			472					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1415C>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288094	0.59976	.	.	ENSG00000162989	ENST00000295101	D	0.88509	-2.39	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	L	0.32530	0.975	0.80722	D	1	P	0.44578	0.838	B	0.35413	0.202	D	0.85203	0.1016	10	0.52906	T	0.07	.	19.1131	0.93326	0.0:1.0:0.0:0.0	.	472	P48549	IRK3_HUMAN	Q	472	ENSP00000295101:P472Q	ENSP00000295101:P472Q	P	+	2	0	KCNJ3	155419980	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.832000	0.97577	0.655000	0.94253	CCA		0.443	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		3	29	1	0	1	1	1	3	29				
SHC3	53358	broad.mit.edu	37	9	91657078	91657078	+	Missense_Mutation	SNP	G	G	A	rs112676570	byFrequency	TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:91657078G>A	ENST00000375835.4	-	10	1529	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	SHC3_ENST00000375830.1_De_novo_Start_InFrame|SHC3_ENST00000375831.1_5'Flank	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	408	CH1.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						CCCTTCTGGCGTGCTGTAGAT	0.567													G|||	4	0.000798722	0.003	0.0	5008	,	,		18537	0.0		0.0	False		,,,				2504	0.0					ENST00000375835.4																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						c.(1222-1224)aCg>aTg		SHC (Src homology 2 domain containing) transforming protein 3		G	MET/THR	24,4382	29.9+/-59.1	0,24,2179	115.0	120.0	118.0		1223	-4.5	0.0	9	dbSNP_132	118	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SHC3	NM_016848.5	81	0,25,6478	AA,AG,GG		0.0116,0.5447,0.1922	benign	408/595	91657078	25,12981	2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91657078G>A	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.1223C>T	9.37:g.91657078G>A	ENSP00000364995:p.Thr408Met					SHC3_ENST00000375830.1_De_novo_Start_InFrame	p.T408M	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN			10	1529	-			408			CH1.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.1223C>T	CCDS6681.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	3.688	-0.064146	0.07273	0.005447	1.16E-4	ENSG00000148082	ENST00000375835	T	0.27890	1.64	4.91	-4.48	0.03515	.	2.395550	0.01040	N	0.004294	T	0.15219	0.0367	L	0.27053	0.805	0.09310	N	0.999998	B	0.06786	0.001	B	0.04013	0.001	T	0.23476	-1.0187	10	0.37606	T	0.19	-13.2162	8.0269	0.30442	0.5473:0.1058:0.3469:0.0	.	408	Q92529	SHC3_HUMAN	M	408	ENSP00000364995:T408M	ENSP00000364995:T408M	T	-	2	0	SHC3	90846898	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	0.603000	0.24149	-0.564000	0.06070	-0.940000	0.02684	ACG		0.567	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		6	119	0	0	0	1	0	6	119				
TENM1	10178	broad.mit.edu	37	X	123515050	123515050	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chrX:123515050C>T	ENST00000371130.3	-	31	7577	c.7514G>A	c.(7513-7515)cGg>cAg	p.R2505Q	TENM1_ENST00000422452.2_Missense_Mutation_p.R2512Q|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2505					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTCAAGGCACCGTCCATCATT	0.458																																						ENST00000422452.2																			0											c.(7534-7536)cGg>cAg		teneurin transmembrane protein 1							135.0	128.0	130.0					X																	123515050		2201	4299	6500	SO:0001583	missense	10178							g.chrX:123515050C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7514G>A	X.37:g.123515050C>T	ENSP00000360171:p.Arg2505Gln					STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.R2505Q	p.R2512Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	7598	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.7535G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	9.577	1.122444	0.20877	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85339	-1.97;-1.94	5.83	4.05	0.47172	.	0.317683	0.35151	N	0.003413	T	0.69655	0.3135	N	0.24115	0.695	0.28403	N	0.918553	B;B;B	0.34061	0.217;0.217;0.436	B;B;B	0.23852	0.016;0.016;0.049	T	0.60177	-0.7314	10	0.20519	T	0.43	.	8.9266	0.35643	0.0:0.6891:0.0:0.3109	.	2511;2512;2505	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	2505;2512	ENSP00000360171:R2505Q;ENSP00000403954:R2512Q	ENSP00000360171:R2505Q	R	-	2	0	ODZ1	123342731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.067000	0.41461	1.221000	0.43506	0.600000	0.82982	CGG		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		39	43	0	0	0	1	0	39	43				
MINPP1	9562	broad.mit.edu	37	10	89265179	89265179	+	Silent	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr10:89265179C>T	ENST00000371996.4	+	1	548	c.507C>T	c.(505-507)ttC>ttT	p.F169F	MINPP1_ENST00000371994.4_Silent_p.F169F|MINPP1_ENST00000536010.1_5'Flank	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	169					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CGGCCCTTTTCAGCCGTGAGA	0.642											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371996.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5						c.(505-507)ttC>ttT		multiple inositol-polyphosphate phosphatase 1							28.0	32.0	30.0					10																	89265179		2203	4300	6503	SO:0001819	synonymous_variant	9562				bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	g.chr10:89265179C>T	AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"""multiple inositol polyphosphate histidine phosphatase, 1"""			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.507C>T	10.37:g.89265179C>T			OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1266	MINPP1_ENST00000371994.4_Silent_p.F169F	p.F169F	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)	1	548	+		Colorectal(252;0.122)	169					F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Silent	SNP	ENST00000371996.4	37	c.507C>T	CCDS7384.1																																																																																				0.642	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049221.1			5	44	0	0	0	1	0	5	44				
FOXR2	139628	broad.mit.edu	37	X	55650297	55650297	+	Silent	SNP	C	C	A	rs377704574		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chrX:55650297C>A	ENST00000339140.3	+	1	465	c.153C>A	c.(151-153)gtC>gtA	p.V51V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	51					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AATACAGAGTCGGAGTAATGA	0.527																																						ENST00000339140.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(151-153)gtC>gtA		forkhead box R2							90.0	82.0	85.0					X																	55650297		2203	4300	6503	SO:0001819	synonymous_variant	139628				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chrX:55650297C>A	BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.153C>A	X.37:g.55650297C>A							p.V51V	NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN			1	465	+			51						Silent	SNP	ENST00000339140.3	37	c.153C>A	CCDS35308.1																																																																																				0.527	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056877.2	NM_198451		23	38	1	0	2.27525e-19	1	2.59029e-19	23	38				
PIK3CD	5293	broad.mit.edu	37	1	9775731	9775731	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:9775731G>A	ENST00000377346.4	+	4	469	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	PIK3CD_ENST00000361110.2_Missense_Mutation_p.V92M|PIK3CD_ENST00000536656.1_Missense_Mutation_p.V92M|PIK3CD_ENST00000543390.1_5'Flank	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	92	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	TCTGTGTGACGTGCAGCCCTT	0.617																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(274-276)Gtg>Atg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							79.0	73.0	75.0					1																	9775731		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775731G>A		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.274G>A	1.37:g.9775731G>A	ENSP00000366563:p.Val92Met					PIK3CD_ENST00000377346.4_Missense_Mutation_p.V92M|PIK3CD_ENST00000361110.2_Missense_Mutation_p.V92M	p.V92M			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	4	482	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	92					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.274G>A	CCDS104.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781245	0.90282	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.78481	-1.18;-1.18;-1.18	5.95	3.8	0.43715	Phosphatidylinositol 3-kinase, p85-binding (2);	0.168827	0.53938	D	0.000050	T	0.81498	0.4835	L	0.54323	1.7	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.978	P;D;P	0.63877	0.854;0.919;0.854	T	0.80181	-0.1489	10	0.87932	D	0	-27.0381	6.797	0.23731	0.85:0.0:0.15:0.0	.	92;92;92	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	M	92	ENSP00000446444:V92M;ENSP00000366563:V92M;ENSP00000354410:V92M	ENSP00000353766:V92M	V	+	1	0	PIK3CD	9698318	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.909000	0.48758	0.644000	0.30656	0.563000	0.77884	GTG		0.617	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		13	56	0	0	0	1	0	13	56				
ZNF521	25925	broad.mit.edu	37	18	22807495	22807495	+	Silent	SNP	G	G	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr18:22807495G>T	ENST00000361524.3	-	4	535	c.387C>A	c.(385-387)cgC>cgA	p.R129R	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.R129R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	129					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGTAGCTGAGGCGGCTAAACG	0.517			T	PAX5	ALL																																	ENST00000361524.3				Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		0				NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149						c.(385-387)cgC>cgA		zinc finger protein 521							127.0	118.0	121.0					18																	22807495		2203	4300	6503	SO:0001819	synonymous_variant	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22807495G>T	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.387C>A	18.37:g.22807495G>T						ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000538137.2_Silent_p.R129R	p.R129R	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN			4	535	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		129					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	ENST00000361524.3	37	c.387C>A	CCDS32806.1																																																																																				0.517	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		5	128	1	0	0.184627	1	0.189756	5	128				
IFNA16	3449	broad.mit.edu	37	9	21217225	21217225	+	Missense_Mutation	SNP	G	G	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:21217225G>T	ENST00000380216.1	-	1	85	c.80C>A	c.(79-81)cCt>cAt	p.P27H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	27					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTGAGTCTGAGGCAGATCACA	0.488																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(79-81)cCt>cAt		interferon, alpha 16							94.0	94.0	94.0					9																	21217225		2203	4300	6503	SO:0001583	missense	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21217225G>T		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.80C>A	9.37:g.21217225G>T	ENSP00000369564:p.Pro27His						p.P27H	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	85	-			27					Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	c.80C>A	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	11.58	1.682261	0.29872	.	.	ENSG00000147885	ENST00000380216	T	0.03689	3.84	2.06	1.15	0.20763	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.174077	0.38111	N	0.001806	T	0.12774	0.0310	M	0.87180	2.865	0.09310	N	1	P	0.42584	0.784	P	0.56088	0.791	T	0.03443	-1.1036	10	0.87932	D	0	.	4.1502	0.10234	0.358:0.0:0.642:0.0	.	27	P05015	IFN16_HUMAN	H	27	ENSP00000369564:P27H	ENSP00000369564:P27H	P	-	2	0	IFNA16	21207225	0.045000	0.20229	0.187000	0.23214	0.164000	0.22412	1.304000	0.33482	0.434000	0.26340	0.184000	0.17185	CCT		0.488	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		4	125	1	0	0.00909568	1	0.00948	4	125				
GHRHR	2692	broad.mit.edu	37	7	31014608	31014608	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr7:31014608T>C	ENST00000326139.2	+	9	881	c.835T>C	c.(835-837)Tcc>Ccc	p.S279P	GHRHR_ENST00000409904.3_Missense_Mutation_p.S215P|GHRHR_ENST00000409316.1_Missense_Mutation_p.L45P|GHRHR_ENST00000461424.1_3'UTR	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	279					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	GGACGACACCTCCCCCTACTG	0.582											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409904.3																			0				biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(643-645)Tcc>Ccc		growth hormone releasing hormone receptor	Sermorelin(DB00010)						165.0	142.0	150.0					7																	31014608		2203	4300	6503	SO:0001583	missense	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31014608T>C		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.835T>C	7.37:g.31014608T>C	ENSP00000320180:p.Ser279Pro		OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	GHRHR_ENST00000409316.1_Missense_Mutation_p.L45P|GHRHR_ENST00000326139.2_Missense_Mutation_p.S279P|GHRHR_ENST00000461424.1_3'UTR	p.S215P			Q02643	GHRHR_HUMAN			6	901	+			279					Q99863	Missense_Mutation	SNP	ENST00000326139.2	37	c.643T>C	CCDS5432.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.05|16.05	3.012918|3.012918	0.54468|0.54468	.|.	.|.	ENSG00000106128|ENSG00000106128	ENST00000409233;ENST00000409316|ENST00000326139;ENST00000409904	.|T;T	.|0.37752	.|1.18;1.18	5.51|5.51	4.34|4.34	0.51931|0.51931	.|GPCR, family 2-like (1);	.|.	.|.	.|.	.|.	T|T	0.48732|0.48732	0.1516|0.1516	L|L	0.41710|0.41710	1.295|1.295	0.80722|0.80722	D|D	1|1	D|D;D	0.76494|0.89917	0.999|1.0;1.0	D|D;D	0.73380|0.97110	0.98|0.999;1.0	T|T	0.44620|0.44620	-0.9316|-0.9316	7|9	.|0.59425	.|D	.|0.04	.|.	10.8349|10.8349	0.46681|0.46681	0.0:0.0:0.1589:0.8411|0.0:0.0:0.1589:0.8411	.|.	45|215;279	Q9HB43|Q9HB45;Q02643	.|.;GHRHR_HUMAN	P|P	66;45|279;215	.|ENSP00000320180:S279P;ENSP00000387113:S215P	.|ENSP00000320180:S279P	L|S	+|+	2|1	0|0	GHRHR|GHRHR	30981133|30981133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.639000|0.639000	0.38242|0.38242	4.426000|4.426000	0.59882|0.59882	0.897000|0.897000	0.36392|0.36392	0.528000|0.528000	0.53228|0.53228	CTC|TCC		0.582	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2			4	109	0	0	0	1	0	4	109				
GGT6	124975	broad.mit.edu	37	17	4462969	4462969	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:4462969C>G	ENST00000574154.1	-	2	523	c.227G>C	c.(226-228)aGg>aCg	p.R76T	GGT6_ENST00000381550.3_Missense_Mutation_p.R76T|GGT6_ENST00000573591.1_5'UTR|GGT6_ENST00000301395.3_Missense_Mutation_p.R76T			Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	76					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTGGAGCTGCCTCACAGCCAG	0.692																																						ENST00000301395.3																			0				endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(226-228)aGg>aCg		gamma-glutamyltransferase 6							40.0	37.0	38.0					17																	4462969		2203	4297	6500	SO:0001583	missense	124975				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr17:4462969C>G	AK074646	CCDS11047.1, CCDS45582.1, CCDS73942.1	17p13.2	2014-08-12	2008-03-10		ENSG00000167741	ENSG00000167741		"""Gamma-glutamyltransferases"""	26891	protein-coding gene	gene with protein product		612341	"""gamma-glutamyltransferase 6 homolog (rat)"""			18357469	Standard	NM_001122890		Approved	FLJ90165	uc002fyd.4	Q6P531	OTTHUMG00000177827	ENST00000574154.1:c.227G>C	17.37:g.4462969C>G	ENSP00000458307:p.Arg76Thr					GGT6_ENST00000381550.3_Missense_Mutation_p.R76T|GGT6_ENST00000574154.1_Missense_Mutation_p.R76T|GGT6_ENST00000573591.1_5'UTR	p.R76T	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN			2	286	-			76					B4DUH4|Q8NCM0	Missense_Mutation	SNP	ENST00000574154.1	37	c.227G>C	CCDS45582.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.398432	0.62177	.	.	ENSG00000167741	ENST00000381550;ENST00000301395	T;T	0.27256	2.43;1.68	5.32	4.35	0.52113	.	0.494570	0.20665	N	0.087951	T	0.45538	0.1347	M	0.67953	2.075	0.47819	D	0.999529	D;D;D	0.76494	0.998;0.998;0.999	P;D;D	0.76575	0.895;0.987;0.988	T	0.31668	-0.9935	10	0.41790	T	0.15	0.0049	10.03	0.42094	0.0:0.9063:0.0:0.0937	.	76;76;76	B4DKN3;Q6P531;Q6P531-2	.;GGT6_HUMAN;.	T	76	ENSP00000370962:R76T;ENSP00000301395:R76T	ENSP00000301395:R76T	R	-	2	0	GGT6	4409718	0.008000	0.16893	0.266000	0.24541	0.087000	0.18053	0.316000	0.19469	1.395000	0.46643	0.655000	0.94253	AGG		0.692	GGT6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439122.1	NM_153338		11	54	0	0	0	1	0	11	54				
CDC123	8872	broad.mit.edu	37	10	12277092	12277092	+	Nonsense_Mutation	SNP	C	C	T	rs139964730		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr10:12277092C>T	ENST00000281141.4	+	8	815	c.535C>T	c.(535-537)Cga>Tga	p.R179*	CDC123_ENST00000378900.2_Nonsense_Mutation_p.R179*|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	179					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GGCTGAGTTTCGATGTTTTGT	0.333																																						ENST00000281141.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(535-537)Cga>Tga		cell division cycle 123		C	stop/ARG	0,4406		0,0,2203	218.0	205.0	210.0		535	2.6	1.0	10	dbSNP_134	210	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CDC123	NM_006023.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		179/337	12277092	1,13005	2203	4300	6503	SO:0001587	stop_gained	8872				cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm		g.chr10:12277092C>T	BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.535C>T	10.37:g.12277092C>T	ENSP00000281141:p.Arg179*					CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Nonsense_Mutation_p.R179*	p.R179*	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN			8	815	+			179					A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Nonsense_Mutation	SNP	ENST00000281141.4	37	c.535C>T	CCDS7090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.830368|4.830368	0.91036|0.91036	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151465|ENSG00000151465	ENST00000281141;ENST00000378900;ENST00000442050;ENST00000455773|ENST00000440613	.|.	.|.	.|.	5.8|5.8	2.57|2.57	0.30868|0.30868	.|.	0.052869|.	0.64402|.	D|.	0.000001|.	.|T	.|0.61173	.|0.2326	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68322	.|-0.5439	.|3	0.02654|.	T|.	1|.	-12.8722|-12.8722	13.1884|13.1884	0.59695|0.59695	0.6928:0.3072:0.0:0.0|0.6928:0.3072:0.0:0.0	.|.	.|.	.|.	.|.	X|L	179;179;147;137|32	.|.	ENSP00000281141:R179X|.	R|S	+|+	1|2	2|0	CDC123|CDC123	12317098|12317098	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.418000|1.418000	0.34782|0.34782	0.725000|0.725000	0.32318|0.32318	0.650000|0.650000	0.86243|0.86243	CGA|TCG		0.333	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046801.1	NM_006023		22	66	0	0	0	1	0	22	66				
BRD4	23476	broad.mit.edu	37	19	15355538	15355538	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:15355538C>T	ENST00000263377.2	-	12	2415	c.2194G>A	c.(2194-2196)Ggg>Agg	p.G732R		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	732					cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TGCTCCCTCCCGGGGTGCCCC	0.582			T	C15orf55	lethal midline carcinoma of young people																																	ENST00000263377.2				Dom	yes		19	19p13.1	23476	T	bromodomain containing 4			E	C15orf55		lethal midline carcinoma of young people		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21						c.(2194-2196)Ggg>Agg		bromodomain containing 4							151.0	147.0	148.0					19																	15355538		2203	4300	6503	SO:0001583	missense	23476				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding	g.chr19:15355538C>T	Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2194G>A	19.37:g.15355538C>T	ENSP00000263377:p.Gly732Arg						p.G732R	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		12	2415	-			732					O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	ENST00000263377.2	37	c.2194G>A	CCDS12328.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837018	0.50951	.	.	ENSG00000141867	ENST00000263377	T	0.38077	1.16	4.38	4.38	0.52667	.	0.613472	0.14493	N	0.316252	T	0.50633	0.1627	L	0.43152	1.355	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	T	0.49925	-0.8887	10	0.59425	D	0.04	-20.753	14.4457	0.67347	0.0:1.0:0.0:0.0	.	732	O60885	BRD4_HUMAN	R	732	ENSP00000263377:G732R	ENSP00000263377:G732R	G	-	1	0	BRD4	15216538	0.988000	0.35896	0.964000	0.40570	0.913000	0.54294	2.840000	0.48215	1.991000	0.58162	0.491000	0.48974	GGG		0.582	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465800.3	NM_058243		12	193	0	0	0	1	0	12	193				
ZNF135	7694	broad.mit.edu	37	19	58579419	58579419	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:58579419G>T	ENST00000313434.5	+	5	1668	c.1567G>T	c.(1567-1569)Gaa>Taa	p.E523*	RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.E535*|ZNF135_ENST00000439855.2_Nonsense_Mutation_p.E523*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.E547*|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000506786.1_Nonsense_Mutation_p.E481*	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	523					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GAAGCCCTACGAATGCAACCA	0.537																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(1441-1443)Gaa>Taa		zinc finger protein 135							76.0	71.0	73.0					19																	58579419		2203	4300	6503	SO:0001587	stop_gained	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579419G>T	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1567G>T	19.37:g.58579419G>T	ENSP00000321406:p.Glu523*					ZNF135_ENST00000439855.2_Nonsense_Mutation_p.E523*|ZNF135_ENST00000401053.4_Nonsense_Mutation_p.E547*|ZNF135_ENST00000313434.5_Nonsense_Mutation_p.E523*|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000511556.1_Nonsense_Mutation_p.E535*	p.E481*			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	1995	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	535					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Nonsense_Mutation	SNP	ENST00000313434.5	37	c.1441G>T		.	.	.	.	.	.	.	.	.	.	G	11.43	1.635243	0.29068	.	.	ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786	.	.	.	3.26	1.07	0.20283	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	2.8841	0.05656	0.3425:0.0:0.4584:0.199	.	.	.	.	X	547;523;523;535;481	.	ENSP00000321406:E523X	E	+	1	0	ZNF135	63271231	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-0.758000	0.04766	0.232000	0.21100	-0.259000	0.10710	GAA		0.537	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		23	71	1	0	2.70639e-06	1	2.98915e-06	23	71				
MACF1	23499	broad.mit.edu	37	1	39802098	39802098	+	Missense_Mutation	SNP	T	T	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:39802098T>C	ENST00000372915.3	+	36	9940	c.9853T>C	c.(9853-9855)Tct>Cct	p.S3285P	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.S3280P|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S3317P|MACF1_ENST00000289893.4_Missense_Mutation_p.S1720P|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3285					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAAGGAGTGTCTCAAAAAGA	0.448																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(9838-9840)Tct>Cct		microtubule-actin crosslinking factor 1							107.0	107.0	107.0					1																	39802098		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39802098T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9853T>C	1.37:g.39802098T>C	ENSP00000362006:p.Ser3285Pro					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.S3317P|MACF1_ENST00000289893.4_Missense_Mutation_p.S1720P|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.S3285P|MACF1_ENST00000361689.2_Intron	p.S3280P			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	10615	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3285					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.9838T>C		.	.	.	.	.	.	.	.	.	.	T	2.158	-0.392823	0.04899	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.63913	-0.07;1.04	5.43	-0.00595	0.14015	.	0.802103	0.11043	N	0.605917	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	1	B	0.30889	0.299	B	0.39771	0.309	T	0.44174	-0.9345	10	0.36615	T	0.2	.	4.6722	0.12694	0.0:0.1797:0.3301:0.4902	.	3285	Q9UPN3	MACF1_HUMAN	P	3285;1720	ENSP00000362006:S3285P;ENSP00000289893:S1720P	ENSP00000289893:S1720P	S	+	1	0	MACF1	39574685	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.499000	0.22546	0.349000	0.23975	0.455000	0.32223	TCT		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		36	95	0	0	0	1	0	36	95				
CCDC92	80212	broad.mit.edu	37	12	124421612	124421612	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr12:124421612G>A	ENST00000238156.3	-	5	1343	c.989C>T	c.(988-990)aCt>aTt	p.T330I	CCDC92_ENST00000545891.1_Missense_Mutation_p.T313I|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545135.1_Missense_Mutation_p.T313I|DNAH10OS_ENST00000514254.2_5'Flank|RP11-380L11.3_ENST00000602292.1_RNA	NM_025140.1	NP_079416.1	Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	330						centriole (GO:0005814)				large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCTTCACACAGTTCTGTCCGT	0.632																																						ENST00000545135.1																			0				large_intestine(5)|lung(2)	7						c.(937-939)aCt>aTt		coiled-coil domain containing 92							68.0	61.0	63.0					12																	124421612		2203	4300	6503	SO:0001583	missense	80212							g.chr12:124421612G>A	AK026124	CCDS9256.1	12q24.31	2011-09-02			ENSG00000119242	ENSG00000119242			29563	protein-coding gene	gene with protein product	"""limkain beta 2"""					12477932	Standard	NM_025140		Approved	FLJ22471	uc001ufw.1	Q53HC0	OTTHUMG00000168725	ENST00000238156.3:c.989C>T	12.37:g.124421612G>A	ENSP00000238156:p.Thr330Ile					CCDC92_ENST00000238156.3_Missense_Mutation_p.T330I|CCDC92_ENST00000545891.1_Missense_Mutation_p.T313I|CCDC92_ENST00000544798.1_Intron	p.T313I			Q53HC0	CCD92_HUMAN		Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)	3	4234	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		330					B3KNQ0|Q9H697	Missense_Mutation	SNP	ENST00000238156.3	37	c.938C>T	CCDS9256.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410561	0.83340	.	.	ENSG00000119242	ENST00000238156;ENST00000545135;ENST00000545891	T;T;T	0.36340	1.26;1.31;1.31	5.43	4.54	0.55810	.	0.104275	0.64402	D	0.000003	T	0.32041	0.0816	L	0.32530	0.975	0.58432	D	0.999993	B	0.23249	0.082	B	0.28916	0.096	T	0.14868	-1.0457	10	0.87932	D	0	-3.0147	13.8209	0.63320	0.0734:0.0:0.9266:0.0	.	330	Q53HC0	CCD92_HUMAN	I	330;313;313	ENSP00000238156:T330I;ENSP00000439526:T313I;ENSP00000440024:T313I	ENSP00000238156:T330I	T	-	2	0	CCDC92	122987565	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	9.029000	0.93718	1.292000	0.44672	0.505000	0.49811	ACT		0.632	CCDC92-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400780.2	NM_025140		16	62	0	0	0	1	0	16	62				
PTGS2	5743	broad.mit.edu	37	1	186645077	186645077	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:186645077C>A	ENST00000367468.5	-	8	1346	c.1210G>T	c.(1210-1212)Gga>Tga	p.G404*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	404					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TGGGTAATTCCATGTTCCAGC	0.373																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1210-1212)Gga>Tga		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						121.0	118.0	119.0					1																	186645077		2203	4300	6503	SO:0001587	stop_gained	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186645077C>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1210G>T	1.37:g.186645077C>A	ENSP00000356438:p.Gly404*					PTGS2_ENST00000490885.2_5'UTR	p.G404*	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN			8	1346	-			404					A8K802|Q16876	Nonsense_Mutation	SNP	ENST00000367468.5	37	c.1210G>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	40	8.008586	0.98607	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-21.8221	19.9823	0.97331	0.0:1.0:0.0:0.0	.	.	.	.	X	404	.	ENSP00000356438:G404X	G	-	1	0	PTGS2	184911700	1.000000	0.71417	0.746000	0.31095	0.956000	0.61745	7.585000	0.82584	2.788000	0.95919	0.650000	0.86243	GGA		0.373	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		4	66	1	0	0.00909568	1	0.00948	4	66				
CLUH	23277	broad.mit.edu	37	17	2601293	2601293	+	Missense_Mutation	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:2601293C>T	ENST00000570628.2	-	10	1849	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	CLUH_ENST00000435359.1_Missense_Mutation_p.E582K|CLUH_ENST00000538975.1_Missense_Mutation_p.E582K			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	582					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)											GGCAGCTCCTCGCCAGGCACG	0.692																																						ENST00000570628.1																			0											c.(1744-1746)Gag>Aag		clustered mitochondria (cluA/CLU1) homolog							31.0	39.0	37.0					17																	2601293		2116	4221	6337	SO:0001583	missense	23277							g.chr17:2601293C>T	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1744G>A	17.37:g.2601293C>T	ENSP00000458986:p.Glu582Lys					CLUH_ENST00000538975.1_Missense_Mutation_p.E582K|CLUH_ENST00000575014.1_Missense_Mutation_p.E514K|CLUH_ENST00000435359.1_Missense_Mutation_p.E582K	p.E582K							10	1849	-								Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.1744G>A	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.899006	0.72754	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.81163	-1.46;-1.46	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.84037	0.5384	M	0.79475	2.455	0.80722	D	1	B;D	0.57899	0.256;0.981	B;P	0.49192	0.072;0.602	T	0.81525	-0.0893	10	0.13853	T	0.58	.	18.4422	0.90670	0.0:1.0:0.0:0.0	.	582;582	O75153;C9J6D7	K0664_HUMAN;.	K	582	ENSP00000388872:E582K;ENSP00000439628:E582K	ENSP00000320468:E582K	E	-	1	0	KIAA0664	2548043	1.000000	0.71417	0.367000	0.25926	0.674000	0.39518	7.487000	0.81328	2.605000	0.88082	0.655000	0.94253	GAG		0.692	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		3	7	0	0	0	1	0	3	7				
FCN3	8547	broad.mit.edu	37	1	27695886	27695886	+	Silent	SNP	C	C	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:27695886C>G	ENST00000270879.4	-	8	746	c.741G>C	c.(739-741)gtG>gtC	p.V247V	MAP3K6_ENST00000493901.1_5'Flank|MAP3K6_ENST00000374040.3_5'Flank|MAP3K6_ENST00000357582.2_5'Flank|FCN3_ENST00000354982.2_Silent_p.V236V	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	247	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGACAATCACTGCACAGT	0.542																																						ENST00000270879.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7						c.(739-741)gtG>gtC		ficolin (collagen/fibrinogen domain containing) 3							163.0	142.0	149.0					1																	27695886		2203	4300	6503	SO:0001819	synonymous_variant	8547				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	g.chr1:27695886C>G	D88587	CCDS300.1, CCDS301.1	1p36.11	2014-09-17	2013-09-12		ENSG00000142748	ENSG00000142748		"""Fibrinogen C domain containing"""	3625	protein-coding gene	gene with protein product	"""Hakata antigen"""	604973	"""ficolin (collagen/fibrinogen domain-containing) 3 (Hakata antigen)"""			9694814, 10330454	Standard	NM_003665		Approved	FCNH, HAKA1	uc001boa.3	O75636	OTTHUMG00000005722	ENST00000270879.4:c.741G>C	1.37:g.27695886C>G						FCN3_ENST00000354982.2_Silent_p.V236V	p.V247V	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	8	746	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	247			Fibrinogen C-terminal.		Q6IBJ5|Q8WW86	Silent	SNP	ENST00000270879.4	37	c.741G>C	CCDS300.1																																																																																				0.542	FCN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000015667.1			16	69	0	0	0	1	0	16	69				
MOK	5891	broad.mit.edu	37	14	102698092	102698092	+	Silent	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr14:102698092C>T	ENST00000361847.2	-	10	1164	c.933G>A	c.(931-933)ccG>ccA	p.P311P	MOK_ENST00000522534.1_Intron|MOK_ENST00000193029.6_Intron|MOK_ENST00000519058.1_Intron|MOK_ENST00000524370.1_Intron|MOK_ENST00000520266.1_Intron|MOK_ENST00000522874.1_Silent_p.P310P|MOK_ENST00000523231.1_Intron|MOK_ENST00000561150.1_Intron|MOK_ENST00000517966.1_Intron|MOK_ENST00000522867.1_Intron|MOK_ENST00000524214.1_Silent_p.P281P	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	311					protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										TGAGTGGTTCCGGTGCCACAG	0.577																																						ENST00000361847.2																			0											c.(931-933)ccG>ccA		MOK protein kinase							157.0	156.0	156.0					14																	102698092		2203	4300	6503	SO:0001819	synonymous_variant	5891				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr14:102698092C>T	AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.933G>A	14.37:g.102698092C>T						MOK_ENST00000520266.1_Intron|MOK_ENST00000193029.6_Intron|MOK_ENST00000524214.1_Silent_p.P281P|MOK_ENST00000523231.1_Intron|MOK_ENST00000522867.1_Intron|MOK_ENST00000522534.1_Intron|MOK_ENST00000522874.1_Silent_p.P310P|MOK_ENST00000561150.1_Intron|MOK_ENST00000524370.1_Intron|MOK_ENST00000519058.1_Intron|MOK_ENST00000517966.1_Intron	p.P311P	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN			10	1164	-			311					B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Silent	SNP	ENST00000361847.2	37	c.933G>A	CCDS9971.1	.	.	.	.	.	.	.	.	.	.	C	5.259	0.233317	0.09969	.	.	ENSG00000080823	ENST00000521937	.	.	.	4.73	-5.21	0.02815	.	.	.	.	.	T	0.27454	0.0674	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.32079	-0.9920	4	.	.	.	.	7.6633	0.28415	0.0:0.2764:0.1258:0.5978	.	.	.	.	R	23	.	.	G	-	1	0	RAGE	101767845	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-2.269000	0.01168	-1.165000	0.02786	0.455000	0.32223	GGA		0.577	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380848.3			10	201	0	0	0	1	0	10	201				
ASTN1	460	broad.mit.edu	37	1	176833488	176833488	+	Silent	SNP	T	T	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:176833488T>G	ENST00000367654.3	-	23	4052	c.3841A>C	c.(3841-3843)Agg>Cgg	p.R1281R	ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Silent_p.R1273R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1281					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACGTCTTCCTGAGGTCCCGG	0.577																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(3841-3843)Agg>Cgg		astrotactin 1							119.0	115.0	116.0					1																	176833488		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176833488T>G	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3841A>C	1.37:g.176833488T>G						ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Silent_p.R1273R	p.R1281R			O14525	ASTN1_HUMAN			23	3854	-			1281					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.3841A>C																																																																																					0.577	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		5	108	0	0	0	1	0	5	108				
CCDC152	100129792	broad.mit.edu	37	5	42801322	42801322	+	3'UTR	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr5:42801322G>A	ENST00000361970.5	+	0	2291				SEPP1_ENST00000507920.1_Silent_p.I105I|SEPP1_ENST00000514985.1_Nonsense_Mutation_p.Q216*|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Nonsense_Mutation_p.Q216*|SEPP1_ENST00000511224.1_Nonsense_Mutation_p.Q216*	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						CCAAGGTGCTGATGTCCATGA	0.463																																						ENST00000514985.1																			0				kidney(10)|large_intestine(1)|lung(4)	15						c.(646-648)Cag>Tag		selenoprotein P, plasma, 1							175.0	177.0	176.0					5																	42801322		2146	4263	6409	SO:0001624	3_prime_UTR_variant	6414				response to oxidative stress	extracellular region	selenium binding	g.chr5:42801322G>A		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141	ENST00000361970.5:c.*1439G>A	5.37:g.42801322G>A						SEPP1_ENST00000509276.1_5'UTR|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000507920.1_Silent_p.I105I|SEPP1_ENST00000511224.1_Nonsense_Mutation_p.Q216*|SEPP1_ENST00000506577.1_Nonsense_Mutation_p.Q216*	p.Q216*	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN			5	902	-			216					B3KXI4|B4E0P7|Q5BLP6	Nonsense_Mutation	SNP	ENST00000361970.5	37	c.646C>T	CCDS47203.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512621	0.64522	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218	.	.	.	5.43	4.55	0.56014	.	0.579281	0.15190	N	0.275614	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	13.6097	0.62071	0.0:0.1632:0.8368:0.0	.	.	.	.	X	216	.	ENSP00000425915:Q216X	Q	-	1	0	SEPP1	42837079	0.996000	0.38824	0.814000	0.32528	0.658000	0.38924	4.460000	0.60108	1.242000	0.43836	0.591000	0.81541	CAG		0.463	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416		20	74	0	0	0	1	0	20	74				
SEC22A	26984	broad.mit.edu	37	3	122928127	122928127	+	Silent	SNP	T	T	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr3:122928127T>C	ENST00000309934.4	+	1	959	c.63T>C	c.(61-63)tcT>tcC	p.S21S	SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Silent_p.S21S|SEC22A_ENST00000481965.2_Silent_p.S21S	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	21	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		TTTCTGCTTCTACTGATTATG	0.378																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(61-63)tcT>tcC		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							122.0	112.0	115.0					3																	122928127		2203	4300	6503	SO:0001819	synonymous_variant	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122928127T>C	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.63T>C	3.37:g.122928127T>C						SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Silent_p.S21S|SEC22A_ENST00000481965.2_Silent_p.S21S	p.S21S	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	1	959	+			21			Longin.		B2RE26|Q9Y682	Silent	SNP	ENST00000309934.4	37	c.63T>C	CCDS3021.1																																																																																				0.378	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		3	75	0	0	0	1	0	3	75				
HAND1	9421	broad.mit.edu	37	5	153855462	153855462	+	Silent	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr5:153855462G>A	ENST00000231121.2	-	2	807	c.552C>T	c.(550-552)caC>caT	p.H184H		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	184					angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GAAAACCTTCGTGCTGCTGCT	0.572																																						ENST00000231121.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(550-552)caC>caT		heart and neural crest derivatives expressed 1							24.0	26.0	26.0					5																	153855462		2203	4300	6503	SO:0001819	synonymous_variant	9421				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity	g.chr5:153855462G>A	AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.552C>T	5.37:g.153855462G>A							p.H184H	NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		2	807	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	184						Silent	SNP	ENST00000231121.2	37	c.552C>T	CCDS4327.1																																																																																				0.572	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252511.1	NM_004821		6	54	0	0	0	1	0	6	54				
PUS10	150962	broad.mit.edu	37	2	61180204	61180204	+	Silent	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:61180204C>T	ENST00000316752.6	-	15	1497	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	PUS10_ENST00000407787.1_Silent_p.K412K	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	412					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CACTGTAGGTCTTTGTCTTTT	0.299																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(1234-1236)aaG>aaA		pseudouridylate synthase 10							283.0	264.0	270.0					2																	61180204		2203	4300	6503	SO:0001819	synonymous_variant	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61180204C>T	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1236G>A	2.37:g.61180204C>T						PUS10_ENST00000407787.1_Silent_p.K412K	p.K412K	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		15	1497	-			412					Q5JPJ5|Q96MI8	Silent	SNP	ENST00000316752.6	37	c.1236G>A	CCDS1865.1																																																																																				0.299	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		15	123	0	0	0	1	0	15	123				
MYH6	4624	broad.mit.edu	37	14	23871948	23871948	+	Silent	SNP	G	G	A	rs376547858		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr14:23871948G>A	ENST00000356287.3	-	10	989	c.960C>T	c.(958-960)tcC>tcT	p.S320S	MYH6_ENST00000405093.3_Silent_p.S320S			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	320	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGGAGGCCACGGACACCTCTC	0.652																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(958-960)tcC>tcT		myosin, heavy chain 6, cardiac muscle, alpha		G		1,4405		0,1,2202	63.0	49.0	54.0		960	-8.4	0.7	14		54	0,8600		0,0,4300	no	coding-synonymous	MYH6	NM_002471.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		320/1940	23871948	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23871948G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.960C>T	14.37:g.23871948G>A						MYH6_ENST00000356287.3_Silent_p.S320S	p.S320S	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	11	1030	-	all_cancers(95;2.54e-05)		320			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.960C>T	CCDS9600.1																																																																																				0.652	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			14	43	0	0	0	1	0	14	43				
ARHGAP25	9938	broad.mit.edu	37	2	69002469	69002469	+	Missense_Mutation	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:69002469G>A	ENST00000295381.3	+	2	597	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	ARHGAP25_ENST00000409202.3_Missense_Mutation_p.V60M|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.V53M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.V53M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.V53M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.V60M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.V34M|ARHGAP25_ENST00000456116.2_3'UTR	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	60	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GAGGTCCATCGTGAAGAACTG	0.582																																						ENST00000295381.3																			0				breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						c.(178-180)Gtg>Atg		Rho GTPase activating protein 25							156.0	164.0	161.0					2																	69002469		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002469G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.178G>A	2.37:g.69002469G>A	ENSP00000295381:p.Val60Met					ARHGAP25_ENST00000409220.1_Missense_Mutation_p.V53M|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.V60M|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.V53M|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.V34M|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.V60M|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.V53M|ARHGAP25_ENST00000456116.2_3'UTR	p.V60M	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN			2	597	+			60			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.178G>A		.	.	.	.	.	.	.	.	.	.	G	17.31	3.356785	0.61293	.	.	ENSG00000163219	ENST00000544262;ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533	T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66	5.58	5.58	0.84498	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.21881	0.0527	N	0.16016	0.355	0.58432	D	0.999995	D;P;D;D;D;D;P	0.89917	1.0;0.857;1.0;1.0;1.0;0.999;0.721	D;P;D;D;D;D;P	0.97110	1.0;0.516;0.999;0.999;0.999;0.998;0.572	T	0.14755	-1.0461	10	0.21540	T	0.41	.	18.1317	0.89604	0.0:0.0:1.0:0.0	.	60;34;60;53;53;53;60	E9PFQ7;B7Z8K7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;.;RHG25_HUMAN	M	34;60;60;60;53;53;53;53;53	ENSP00000439917:V34M;ENSP00000295381:V60M;ENSP00000386911:V60M;ENSP00000420583:V60M;ENSP00000386863:V53M;ENSP00000386241:V53M;ENSP00000417139:V53M	ENSP00000295381:V60M	V	+	1	0	ARHGAP25	68855973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.024000	0.57218	2.613000	0.88420	0.563000	0.77884	GTG		0.582	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		6	205	0	0	0	1	0	6	205				
LRCH3	84859	broad.mit.edu	37	3	197559098	197559098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr3:197559098C>T	ENST00000425562.2	+	8	1012	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	LRCH3_ENST00000438796.2_Nonsense_Mutation_p.R338*|LRCH3_ENST00000441090.2_Nonsense_Mutation_p.R212*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R338*|AC055764.1_ENST00000454526.1_RNA|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R338*|LRCH3_ENST00000536618.1_5'UTR			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	338						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TCTGCCTCTTCGAGTAGCAGA	0.408																																						ENST00000438796.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1012-1014)Cga>Tga		leucine-rich repeats and calponin homology (CH) domain containing 3							76.0	74.0	75.0					3																	197559098		2203	4300	6503	SO:0001587	stop_gained	84859					extracellular region		g.chr3:197559098C>T	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1012C>T	3.37:g.197559098C>T	ENSP00000393579:p.Arg338*					LRCH3_ENST00000441090.2_Nonsense_Mutation_p.R212*|LRCH3_ENST00000425562.2_Nonsense_Mutation_p.R338*|LRCH3_ENST00000414675.2_Nonsense_Mutation_p.R338*|LRCH3_ENST00000334859.4_Nonsense_Mutation_p.R338*|LRCH3_ENST00000536618.1_5'UTR	p.R338*			Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	8	1056	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		338					B4E0T7|Q96FP9|Q9NT52	Nonsense_Mutation	SNP	ENST00000425562.2	37	c.1012C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.320038	0.97471	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8206	14.3134	0.66432	0.1485:0.8515:0.0:0.0	.	.	.	.	X	338;212;338;338;338	.	ENSP00000334375:R338X	R	+	1	2	LRCH3	199043495	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.974000	0.40559	2.601000	0.87937	0.585000	0.79938	CGA		0.408	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773		4	76	0	0	0	1	0	4	76				
HSPA8	3312	broad.mit.edu	37	11	122928585	122928585	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr11:122928585C>G	ENST00000532636.1	-	9	1917	c.1798G>C	c.(1798-1800)Gag>Cag	p.E600Q	SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526862.1_5'Flank|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000533540.1_Missense_Mutation_p.E454Q|HSPA8_ENST00000534624.1_Missense_Mutation_p.E600Q|HSPA8_ENST00000227378.3_Missense_Mutation_p.E600Q|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.E581Q|HSPA8_ENST00000534319.1_Missense_Mutation_p.E364Q			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	600					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAAACTTTCTCCAGCTCTTTC	0.468																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1798-1800)Gag>Cag		heat shock 70kDa protein 8							146.0	155.0	152.0					11																	122928585		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122928585C>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1798G>C	11.37:g.122928585C>G	ENSP00000437125:p.Glu600Gln					HSPA8_ENST00000526110.1_Missense_Mutation_p.E581Q|HSPA8_ENST00000534319.1_Missense_Mutation_p.E364Q|HSPA8_ENST00000533540.1_Missense_Mutation_p.E454Q|HSPA8_ENST00000532636.1_Missense_Mutation_p.E600Q|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.E600Q	p.E600Q	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	9	2074	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	600					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1798G>C	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.730782	0.69074	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552	T;T;T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29;2.29;2.29	4.65	4.65	0.58169	.	0.245285	0.38164	N	0.001788	T	0.17789	0.0427	N	0.25992	0.78	0.80722	D	1	B;B	0.32781	0.384;0.384	B;B	0.37780	0.258;0.258	T	0.09037	-1.0693	10	0.66056	D	0.02	-25.9586	17.8802	0.88838	0.0:1.0:0.0:0.0	.	600;600	Q53GZ6;P11142	.;HSP7C_HUMAN	Q	600;454;600;600;364;581;191	ENSP00000437125:E600Q;ENSP00000437189:E454Q;ENSP00000432083:E600Q;ENSP00000227378:E600Q;ENSP00000433316:E364Q;ENSP00000433584:E581Q;ENSP00000435908:E191Q	ENSP00000227378:E600Q	E	-	1	0	HSPA8	122433795	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.030000	0.70903	2.285000	0.76669	0.561000	0.74099	GAG		0.468	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			4	101	0	0	0	1	0	4	101				
EGFLAM	133584	broad.mit.edu	37	5	38427145	38427145	+	Silent	SNP	T	T	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr5:38427145T>C	ENST00000354891.3	+	14	2191	c.1845T>C	c.(1843-1845)tcT>tcC	p.S615S	EGFLAM_ENST00000322350.5_Silent_p.S615S|EGFLAM_ENST00000336740.6_Silent_p.S381S|EGFLAM_ENST00000397202.2_5'UTR|EGFLAM-AS1_ENST00000508986.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	615	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCAGAGAGTCTCTGAGATCTT	0.493																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(1843-1845)tcT>tcC		EGF-like, fibronectin type III and laminin G domains							180.0	177.0	178.0					5																	38427145		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427145T>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1845T>C	5.37:g.38427145T>C						EGFLAM_ENST00000336740.6_Silent_p.S381S|EGFLAM_ENST00000354891.3_Silent_p.S615S|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_5'UTR	p.S615S	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			14	2191	+	all_lung(31;0.000385)		615			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.1845T>C	CCDS56363.1																																																																																				0.493	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		4	121	0	0	0	1	0	4	121				
SLC1A6	6511	broad.mit.edu	37	19	15073002	15073002	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:15073002C>G	ENST00000221742.3	-	5	754	c.747G>C	c.(745-747)gaG>gaC	p.E249D	SLC1A6_ENST00000598504.1_Missense_Mutation_p.E249D|SLC1A6_ENST00000600144.1_Missense_Mutation_p.E249D|SLC1A6_ENST00000430939.2_Missense_Mutation_p.E185D|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E249D	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	249					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						AGCTCAGCATCTCCTGCAGGG	0.602																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(745-747)gaG>gaC		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						92.0	87.0	89.0					19																	15073002		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073002C>G		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.747G>C	19.37:g.15073002C>G	ENSP00000221742:p.Glu249Asp					SLC1A6_ENST00000430939.2_Missense_Mutation_p.E185D|SLC1A6_ENST00000544886.2_Missense_Mutation_p.E249D|SLC1A6_ENST00000600144.1_Missense_Mutation_p.E249D|SLC1A6_ENST00000221742.3_Missense_Mutation_p.E249D	p.E249D	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	2106	-			249					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.747G>C	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.372996	0.82573	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.71579	-0.58;0.45;1.17	4.42	4.42	0.53409	.	0.548560	0.18995	N	0.125516	T	0.68007	0.2954	N	0.21282	0.65	0.50813	D	0.999894	B;P;B	0.48294	0.115;0.908;0.05	B;P;B	0.55508	0.115;0.777;0.058	T	0.64715	-0.6342	10	0.30854	T	0.27	-23.8275	12.4526	0.55684	0.0:1.0:0.0:0.0	.	185;249;249	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	D	185;249;249	ENSP00000409386:E185D;ENSP00000221742:E249D;ENSP00000446175:E249D	ENSP00000221742:E249D	E	-	3	2	SLC1A6	14934002	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.337000	0.52120	2.310000	0.77875	0.454000	0.30748	GAG		0.602	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		4	90	0	0	0	1	0	4	90				
TMEM176A	55365	broad.mit.edu	37	7	150498790	150498790	+	Missense_Mutation	SNP	G	G	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr7:150498790G>T	ENST00000484928.1	+	2	733	c.152G>T	c.(151-153)aGc>aTc	p.S51I	TMEM176B_ENST00000434545.1_5'Flank|TMEM176B_ENST00000492607.1_5'Flank|TMEM176B_ENST00000326442.5_5'Flank|TMEM176A_ENST00000004103.3_Missense_Mutation_p.S51I|TMEM176B_ENST00000447204.2_5'Flank|TMEM176B_ENST00000450753.2_5'Flank|TMEM176A_ENST00000461345.1_Intron			Q96HP8	T176A_HUMAN	transmembrane protein 176A	51					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGGCAGCAGCCGGCTGCTG	0.706																																						ENST00000484928.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12						c.(151-153)aGc>aTc		transmembrane protein 176A							5.0	6.0	6.0					7																	150498790		1934	3878	5812	SO:0001583	missense	55365					integral to membrane		g.chr7:150498790G>T	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.152G>T	7.37:g.150498790G>T	ENSP00000417626:p.Ser51Ile					TMEM176A_ENST00000004103.3_Missense_Mutation_p.S51I|TMEM176A_ENST00000461345.1_Intron	p.S51I			Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	733	+			51					D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	c.152G>T	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456467	0.43634	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000475536	T;T;T	0.12147	3.08;3.08;2.71	3.7	-0.376	0.12505	.	0.896444	0.09585	N	0.782340	T	0.14313	0.0346	L	0.43152	1.355	0.09310	N	0.999999	D	0.56968	0.978	P	0.49140	0.601	T	0.18999	-1.0319	10	0.72032	D	0.01	-1.8834	3.2509	0.06814	0.3717:0.2114:0.4168:0.0	.	51	Q96HP8	T176A_HUMAN	I	51;51;3	ENSP00000417626:S51I;ENSP00000004103:S51I;ENSP00000417834:S3I	ENSP00000004103:S51I	S	+	2	0	TMEM176A	150129723	0.000000	0.05858	0.009000	0.14445	0.933000	0.57130	0.278000	0.18753	0.009000	0.14813	-0.142000	0.14014	AGC		0.706	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		4	11	1	0	1	1	1	4	11				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			6	55	0	0	0	1	0	6	55				
OR4N4	283694	broad.mit.edu	37	15	22382599	22382599	+	Missense_Mutation	SNP	T	T	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr15:22382599T>G	ENST00000328795.4	+	1	218	c.127T>G	c.(127-129)Ttt>Gtt	p.F43V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCCTGGAAATTTTCTCATTAT	0.438																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(127-129)Ttt>Gtt		olfactory receptor, family 4, subfamily N, member 4							200.0	199.0	199.0					15																	22382599		2194	4281	6475	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382599T>G	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.127T>G	15.37:g.22382599T>G	ENSP00000332500:p.Phe43Val					RP11-69H14.6_ENST00000558896.1_RNA	p.F43V	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	218	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	43					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.127T>G	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	1.563	-0.536048	0.04082	.	.	ENSG00000183706	ENST00000328795	T	0.00421	7.46	3.24	-0.602	0.11634	GPCR, rhodopsin-like superfamily (1);	0.276350	0.26119	N	0.026232	T	0.00144	0.0004	N	0.03281	-0.365	0.23487	N	0.997573	B	0.02656	0.0	B	0.06405	0.002	T	0.44128	-0.9348	10	0.37606	T	0.19	-8.4309	0.1283	0.00071	0.2182:0.2171:0.2231:0.3415	.	43	Q8N0Y3	OR4N4_HUMAN	V	43	ENSP00000332500:F43V	ENSP00000332500:F43V	F	+	1	0	OR4N4	19883963	0.000000	0.05858	0.994000	0.49952	0.026000	0.11368	-0.527000	0.06200	0.010000	0.14839	0.164000	0.16699	TTT		0.438	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			5	101	0	0	0	1	0	5	101				
EMC1	23065	broad.mit.edu	37	1	19547305	19547305	+	Silent	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:19547305C>T	ENST00000477853.1	-	21	2667	c.2625G>A	c.(2623-2625)aaG>aaA	p.K875K	EMC1_ENST00000480380.1_5'UTR|EMC1_ENST00000375208.3_Silent_p.K853K|EMC1_ENST00000375199.3_Silent_p.K874K|RP1-43E13.2_ENST00000437898.1_RNA	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	875						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CCAGCAAAGCCTTAGGAAGGG	0.512																																						ENST00000477853.1																			0											c.(2623-2625)aaG>aaA		ER membrane protein complex subunit 1							103.0	91.0	95.0					1																	19547305		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19547305C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2625G>A	1.37:g.19547305C>T						EMC1_ENST00000375199.3_Silent_p.K874K|EMC1_ENST00000375208.3_Silent_p.K853K|EMC1_ENST00000480380.1_5'UTR|RP1-43E13.2_ENST00000437898.1_RNA	p.K875K	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1					21	2667	-								A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.2625G>A	CCDS190.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303683	0.60305	.	.	ENSG00000127463	ENST00000486405	.	.	.	5.83	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.916	0.35581	0.0:0.7113:0.0:0.2887	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0090	19419892	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.306000	0.43673	0.365000	0.24400	0.655000	0.94253	.		0.512	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		11	47	0	0	0	1	0	11	47				
TTN	7273	broad.mit.edu	37	2	179571293	179571293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:179571293G>A	ENST00000591111.1	-	100	28581	c.28357C>T	c.(28357-28359)Cga>Tga	p.R9453*	TTN_ENST00000589042.1_Nonsense_Mutation_p.R9770*|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8526*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13549	Ig-like 77.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R8526R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCACGCATCGGTATAACCCA	0.418																																						ENST00000589042.1																			1	Substitution - coding silent(1)	p.R8526R(1)	lung(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(29308-29310)Cga>Tga		titin							181.0	172.0	175.0					2																	179571293		1912	4130	6042	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179571293G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28357C>T	2.37:g.179571293G>A	ENSP00000465570:p.Arg9453*					TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R8526*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R9453*	p.R9770*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		102	29532	-			9453			Ig-like 79.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.29308C>T		.	.	.	.	.	.	.	.	.	.	G	59	38.973414	0.99985	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.92	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.1319	0.81446	0.0:0.0:0.4527:0.5473	.	.	.	.	X	8526	.	ENSP00000343764:R8526X	R	-	1	2	TTN	179279538	1.000000	0.71417	0.289000	0.24876	0.019000	0.09904	1.944000	0.40263	0.359000	0.24239	0.650000	0.86243	CGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	111	0	0	0	1	0	7	111				
SMAD6	4091	broad.mit.edu	37	15	67073336	67073336	+	Splice_Site	SNP	C	C	T			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr15:67073336C>T	ENST00000288840.5	+	4	1985	c.954C>T	c.(952-954)gaC>gaT	p.D318D	SMAD6_ENST00000338426.4_Splice_Site_p.D57D	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	318					BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						GTCCCGCAGACGCCAGCATGT	0.687																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	ENST00000288840.5																			0				lung(1)|skin(1)	2						c.e4-1		SMAD family member 6							13.0	13.0	13.0					15																	67073336		2192	4281	6473	SO:0001630	splice_region_variant	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:67073336C>T	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.953-1C>T	15.37:g.67073336C>T						SMAD6_ENST00000338426.4_Splice_Site_p.D57_splice	p.D318_splice	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN			4	1985	+			318					A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Splice_Site	SNP	ENST00000288840.5	37	c.952_splice	CCDS10221.1																																																																																				0.687	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585	Silent	4	6	0	0	0	1	0	4	6				
NIPSNAP3B	55335	broad.mit.edu	37	9	107531143	107531143	+	Splice_Site	SNP	G	G	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:107531143G>C	ENST00000374762.3	+	3	342		c.e3-1		NIPSNAP3B_ENST00000461177.1_Splice_Site	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TCCTCCCATAGATAATTTTGC	0.358																																						ENST00000374762.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						c.e3-1		nipsnap homolog 3B (C. elegans)							55.0	53.0	54.0					9																	107531143		2203	4300	6503	SO:0001630	splice_region_variant	55335							g.chr9:107531143G>C	BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.272-1G>C	9.37:g.107531143G>C						NIPSNAP3B_ENST00000461177.1_Splice_Site		NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN			3	342	+								Q5VX30|Q9NUM2	Splice_Site	SNP	ENST00000374762.3	37		CCDS6761.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616222	0.46631	.	.	ENSG00000165028	ENST00000374762	.	.	.	3.44	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2457	0.54568	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPSNAP3B	106570964	1.000000	0.71417	0.986000	0.45419	0.866000	0.49608	4.579000	0.60936	1.911000	0.55334	0.650000	0.86243	.		0.358	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053486.1	NM_018376	Intron	6	27	0	0	0	1	0	6	27				
RFX5	5993	broad.mit.edu	37	1	151315105	151315105	+	Silent	SNP	G	G	T	rs79106593		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr1:151315105G>T	ENST00000290524.4	-	11	1586	c.1408C>A	c.(1408-1410)Cga>Aga	p.R470R	RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000452513.2_Silent_p.R430R|RFX5_ENST00000368870.2_Silent_p.R470R|RFX5_ENST00000452671.2_Silent_p.R470R|RFX5_ENST00000478564.1_5'Flank	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	470					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTTTTTTCGAGGGCGCCCC	0.537																																						ENST00000290524.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20						c.(1408-1410)Cga>Aga		regulatory factor X, 5 (influences HLA class II expression)							235.0	260.0	251.0					1																	151315105		2203	4300	6503	SO:0001819	synonymous_variant	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151315105G>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1408C>A	1.37:g.151315105G>T						RFX5_ENST00000452671.2_Silent_p.R470R|RFX5_ENST00000452513.2_Silent_p.R430R|RFX5_ENST00000368870.2_Silent_p.R470R	p.R470R	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1586	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		470					B7Z848|D3DV19|E9PFU4|Q5VWC3	Silent	SNP	ENST00000290524.4	37	c.1408C>A	CCDS994.1																																																																																				0.537	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		92	332	1	0	6.7531e-64	1	7.80827e-64	92	332				
CDC42EP4	23580	broad.mit.edu	37	17	71281908	71281908	+	Silent	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:71281908G>A	ENST00000335793.3	-	2	1126	c.732C>T	c.(730-732)ggC>ggT	p.G244G	CDC42EP4_ENST00000439510.2_Silent_p.G174G|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	244					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			TGCCAGCGGCGCCCTCATCGC	0.692																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(730-732)ggC>ggT		CDC42 effector protein (Rho GTPase binding) 4							37.0	34.0	35.0					17																	71281908		2202	4300	6502	SO:0001819	synonymous_variant	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281908G>A	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.732C>T	17.37:g.71281908G>A						CDC42EP4_ENST00000439510.2_Silent_p.G174G|CDC42EP4_ENST00000581014.1_Intron	p.G244G			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	1126	-			244					B3KUS7|O95828|Q96FT3	Silent	SNP	ENST00000335793.3	37	c.732C>T	CCDS11695.1																																																																																				0.692	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		3	43	0	0	0	1	0	3	43				
ANK1	286	broad.mit.edu	37	8	41577280	41577280	+	Silent	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr8:41577280G>A	ENST00000347528.4	-	10	1089	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	ANK1_ENST00000379758.2_Silent_p.L336L|ANK1_ENST00000396945.1_Silent_p.L336L|ANK1_ENST00000396942.1_Silent_p.L336L|ANK1_ENST00000289734.7_Silent_p.L336L|ANK1_ENST00000352337.4_Silent_p.L336L|ANK1_ENST00000265709.8_Silent_p.L369L	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	336	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGTGGTCCAGGGTGATGTCG	0.602																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(1006-1008)Ctg>Ttg		ankyrin 1, erythrocytic							252.0	215.0	228.0					8																	41577280		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41577280G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1006C>T	8.37:g.41577280G>A						ANK1_ENST00000396945.1_Silent_p.L336L|ANK1_ENST00000265709.8_Silent_p.L369L|ANK1_ENST00000289734.7_Silent_p.L336L|ANK1_ENST00000352337.4_Silent_p.L336L|ANK1_ENST00000347528.4_Silent_p.L336L|ANK1_ENST00000379758.2_Silent_p.L336L	p.L336L			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		10	1089	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	336			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.1006C>T	CCDS6119.1																																																																																				0.602	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		12	192	0	0	0	1	0	12	192				
SRP68	6730	broad.mit.edu	37	17	74068416	74068416	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:74068416C>G	ENST00000307877.2	-	1	318	c.157G>C	c.(157-159)Gaa>Caa	p.E53Q	GALR2_ENST00000329003.3_5'Flank|SRP68_ENST00000539137.1_Missense_Mutation_p.E53Q|SRP68_ENST00000355113.5_Intron	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	53					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCCCCAAATTCTTTGTTTGCC	0.587																																						ENST00000307877.2																			0				NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						c.(157-159)Gaa>Caa		signal recognition particle 68kDa							228.0	234.0	232.0					17																	74068416		2203	4300	6503	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068416C>G	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.157G>C	17.37:g.74068416C>G	ENSP00000312066:p.Glu53Gln					SRP68_ENST00000539137.1_Missense_Mutation_p.E53Q|SRP68_ENST00000355113.5_Intron	p.E53Q	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN			1	318	-			53					B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.157G>C	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258828	0.59321	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	.	.	.	5.12	4.09	0.47781	.	0.396656	0.24771	N	0.035739	T	0.36799	0.0980	N	0.05230	-0.09	0.80722	D	1	B;B	0.17038	0.02;0.008	B;B	0.14023	0.01;0.01	T	0.23904	-1.0175	9	0.42905	T	0.14	-22.8825	14.5944	0.68395	0.0:0.8551:0.1449:0.0	.	53;53	G3V1U4;Q9UHB9	.;SRP68_HUMAN	Q	53	.	ENSP00000307756:E53Q	E	-	1	0	SRP68	71580011	0.009000	0.17119	0.998000	0.56505	0.997000	0.91878	1.127000	0.31357	2.547000	0.85894	0.555000	0.69702	GAA		0.587	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1	NM_014230		6	568	0	0	0	1	0	6	568				
SNX31	169166	broad.mit.edu	37	8	101608996	101608996	+	Silent	SNP	T	T	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr8:101608996T>C	ENST00000311812.2	-	10	999	c.849A>G	c.(847-849)gaA>gaG	p.E283E	SNX31_ENST00000519521.1_5'Flank|SNX31_ENST00000428383.2_Silent_p.E184E	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	283					protein transport (GO:0015031)	protein complex (GO:0043234)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CAGAGCCTGATTCTGGGTAGT	0.542																																						ENST00000311812.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26						c.(847-849)gaA>gaG		sorting nexin 31							129.0	132.0	131.0					8																	101608996		2203	4300	6503	SO:0001819	synonymous_variant	169166				cell communication|protein transport		phosphatidylinositol binding	g.chr8:101608996T>C		CCDS6288.1	8q22.3	2011-05-03			ENSG00000174226	ENSG00000174226		"""Sorting nexins"""	28605	protein-coding gene	gene with protein product						16782399	Standard	NM_152628		Approved	MGC39715	uc003yjr.3	Q8N9S9	OTTHUMG00000164725	ENST00000311812.2:c.849A>G	8.37:g.101608996T>C						SNX31_ENST00000428383.2_Silent_p.E184E	p.E283E	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)		10	999	-	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		283					C9J6L9|Q8N0U9	Silent	SNP	ENST00000311812.2	37	c.849A>G	CCDS6288.1																																																																																				0.542	SNX31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379910.1	NM_152628		11	161	0	0	0	1	0	11	161				
PRUNE2	158471	broad.mit.edu	37	9	79465561	79465561	+	Silent	SNP	C	C	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr9:79465561C>G	ENST00000376718.3	-	3	285	c.162G>C	c.(160-162)ctG>ctC	p.L54L	PRUNE2_ENST00000376713.3_Silent_p.L54L|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	54					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTGGTAAACACAGAACCCCTG	0.393																																						ENST00000376718.3																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(160-162)ctG>ctC		prune homolog 2 (Drosophila)							109.0	113.0	112.0					9																	79465561		2203	4300	6503	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79465561C>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.162G>C	9.37:g.79465561C>G						PRUNE2_ENST00000376713.3_Silent_p.L54L|PRUNE2_ENST00000428286.1_5'UTR	p.L54L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN			3	285	-			54					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.162G>C	CCDS47982.1																																																																																				0.393	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		10	65	0	0	0	1	0	10	65				
C19orf47	126526	broad.mit.edu	37	19	40827960	40827960	+	Missense_Mutation	SNP	C	C	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:40827960C>G	ENST00000582783.1	-	9	1110	c.1098G>C	c.(1096-1098)caG>caC	p.Q366H	C19orf47_ENST00000392035.2_Missense_Mutation_p.Q299H|C19orf47_ENST00000584868.1_5'UTR	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	366						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CCTGGCTGTCCTGGGCCTCGG	0.617																																						ENST00000582783.1																			0				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(1096-1098)caG>caC		chromosome 19 open reading frame 47							51.0	44.0	46.0					19																	40827960		2203	4300	6503	SO:0001583	missense	126526							g.chr19:40827960C>G	AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.1098G>C	19.37:g.40827960C>G	ENSP00000463159:p.Gln366His					C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Missense_Mutation_p.Q299H	p.Q366H	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	Lung(22;0.000636)		9	1110	-			366					Q8IZ33|Q8N0V9	Missense_Mutation	SNP	ENST00000582783.1	37	c.1098G>C	CCDS58662.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437848	0.62955	.	.	ENSG00000160392	ENST00000357884;ENST00000392035	T	0.54279	0.58	5.37	3.22	0.36961	.	0.315830	0.34676	N	0.003763	T	0.67608	0.2911	M	0.72118	2.19	0.53688	D	0.999974	D	0.76494	0.999	D	0.85130	0.997	T	0.67225	-0.5724	10	0.62326	D	0.03	-21.1511	9.2966	0.37819	0.145:0.7779:0.0:0.077	.	366	Q8N9M1	CS047_HUMAN	H	366;299	ENSP00000375889:Q299H	ENSP00000350556:Q366H	Q	-	3	2	C19orf47	45519800	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.023000	0.64084	0.636000	0.30508	-0.136000	0.14681	CAG		0.617	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444488.1	NM_178830		10	53	0	0	0	1	0	10	53				
KANSL1L	151050	broad.mit.edu	37	2	210993802	210993802	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:210993802T>A	ENST00000281772.9	-	3	1446	c.1183A>T	c.(1183-1185)Aaa>Taa	p.K395*	KANSL1L_ENST00000457374.1_Nonsense_Mutation_p.K395*|KANSL1L_ENST00000452086.1_Nonsense_Mutation_p.K395*|KANSL1L_ENST00000418791.1_Nonsense_Mutation_p.K395*	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	395						histone acetyltransferase complex (GO:0000123)											TGTTGGATTTTGCATTCTAGG	0.408																																						ENST00000281772.9																			0											c.(1183-1185)Aaa>Taa		KAT8 regulatory NSL complex subunit 1-like							188.0	168.0	175.0					2																	210993802		2203	4300	6503	SO:0001587	stop_gained	151050							g.chr2:210993802T>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1183A>T	2.37:g.210993802T>A	ENSP00000281772:p.Lys395*					KANSL1L_ENST00000452086.1_Nonsense_Mutation_p.K395*|KANSL1L_ENST00000457374.1_Nonsense_Mutation_p.K395*|KANSL1L_ENST00000418791.1_Nonsense_Mutation_p.K395*	p.K395*	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			3	1446	-			395					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Nonsense_Mutation	SNP	ENST00000281772.9	37	c.1183A>T	CCDS33370.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.7|27.7	4.852058|4.852058	0.91355|0.91355	.|.	.|.	ENSG00000144445|ENSG00000144445	ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086|ENST00000428655	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	.|T	.|0.71316	.|0.3325	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73978	.|-0.3812	.|3	0.02654|.	T|.	1|.	.|.	15.6345|15.6345	0.76941|0.76941	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	395|89	.|.	ENSP00000281772:K395X|.	K|Q	-|-	1|2	0|0	C2orf67|C2orf67	210702047|210702047	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.949000|0.949000	0.60115|0.60115	4.487000|4.487000	0.60293|0.60293	2.089000|2.089000	0.63090|0.63090	0.482000|0.482000	0.46254|0.46254	AAA|CAA		0.408	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		4	92	0	0	0	1	0	4	92				
RAG1	5896	broad.mit.edu	37	11	36596713	36596713	+	Missense_Mutation	SNP	A	A	G			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr11:36596713A>G	ENST00000299440.5	+	2	1971	c.1859A>G	c.(1858-1860)gAa>gGa	p.E620G		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	620					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTAGTTCCAGAAAAGGCAGTC	0.453									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(1858-1860)gAa>gGa		recombination activating gene 1							89.0	75.0	80.0					11																	36596713		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36596713A>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1859A>G	11.37:g.36596713A>G	ENSP00000299440:p.Glu620Gly						p.E620G	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	1971	+	all_lung(20;0.226)	all_hematologic(20;0.107)	620					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.1859A>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.128740	0.56721	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.88586	-2.4;-2.4	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.95890	0.8662	M	0.94021	3.485	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.96946	0.9691	10	0.87932	D	0	.	15.9317	0.79668	1.0:0.0:0.0:0.0	.	620	P15918	RAG1_HUMAN	G	620	ENSP00000434610:E620G;ENSP00000299440:E620G	ENSP00000299440:E620G	E	+	2	0	RAG1	36553289	1.000000	0.71417	0.961000	0.40146	0.565000	0.35776	8.962000	0.93254	2.156000	0.67533	0.524000	0.50904	GAA		0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		11	27	0	0	0	1	0	11	27				
CUBN	8029	broad.mit.edu	37	10	16996429	16996429	+	Missense_Mutation	SNP	G	G	C			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr10:16996429G>C	ENST00000377833.4	-	32	4879	c.4814C>G	c.(4813-4815)cCt>cGt	p.P1605R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1605	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGTCTGGAAGGGCCAGACTG	0.542																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(4813-4815)cCt>cGt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						173.0	154.0	161.0					10																	16996429		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16996429G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4814C>G	10.37:g.16996429G>C	ENSP00000367064:p.Pro1605Arg						p.P1605R	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			32	4879	-			1605			CUB 10.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4814C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.279947	0.01398	.	.	ENSG00000107611	ENST00000377833	T	0.16457	2.34	5.83	0.483	0.16820	CUB (5);	1.536120	0.04151	N	0.321278	T	0.07369	0.0186	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31138	-0.9954	10	0.12103	T	0.63	.	3.2328	0.06754	0.2303:0.1516:0.5137:0.1045	.	1605	O60494	CUBN_HUMAN	R	1605	ENSP00000367064:P1605R	ENSP00000367064:P1605R	P	-	2	0	CUBN	17036435	0.001000	0.12720	0.000000	0.03702	0.140000	0.21249	0.192000	0.17096	0.091000	0.17302	-0.813000	0.03139	CCT		0.542	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		29	144	0	0	0	1	0	29	144				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	63	0	0	0	1	0	4	63				
TCF3	6929	broad.mit.edu	37	19	1615558	1615558	+	Silent	SNP	G	G	A			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:1615558G>A	ENST00000395423.3	-	14	1587	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Intron|RNU6-1223P_ENST00000517124.1_RNA			Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GAGGGAGACAGTGAGGTTGGG	0.697			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																	ENST00000395423.3				Dom	yes		19	19p13.3	6929	T	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)			L	"""PBX1, HLF, TFPT"""		pre B-ALL		0				breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16						c.(1558-1560)caC>caT		transcription factor 3							13.0	17.0	15.0					19																	1615558		2119	4162	6281	SO:0001819	synonymous_variant	6929				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	g.chr19:1615558G>A	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000395423.3:c.1560C>T	19.37:g.1615558G>A						TCF3_ENST00000453954.2_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron	p.H520H			P15923	TFE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1587	-		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)	533					Q53R97|Q6PD70|Q9NP00	Silent	SNP	ENST00000395423.3	37	c.1560C>T																																																																																					0.697	TCF3-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000449374.1	NM_003200		10	32	0	0	0	1	0	10	32				
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677	byFrequency	TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777														1724	0.344249	0.6324	0.2349	5008	,	,		12983	0.3214		0.2008	False		,,,				2504	0.2035					ENST00000175756.5																			1	Deletion - In frame(1)	p.T378_G379delTG(1)	prostate(1)	endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15						c.(1111-1119)cag>ca		protein tyrosine phosphatase, non-receptor type 18 (brain-derived)			,	1068,966		446,176,395					,	-3.8	0.0		dbSNP_132	3	951,4205		280,391,1907	no	coding,coding	PTPN18	NM_014369.3,NM_001142370.1	,	726,567,2302	A1A1,A1R,RR		18.4445,47.4926,28.0807	,	,		2019,5171				SO:0001651	inframe_deletion	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131129929_131129934delGACGGG	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.1113_1118delGACGGG	2.37:g.131129935_131129940delGACGGG	ENSP00000175756:p.Thr378_Gly379del					PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	p.QTG371del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN			13	1214_1219	+	Colorectal(110;0.1)		371					B4E1E6|Q53P42	In_Frame_Del	DEL	ENST00000175756.5	37	c.1113_1118delGACGGG	CCDS2161.1																																																																																				0.777	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2			3	6						3	6	---	---	---	---
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			5	8						5	8	---	---	---	---
RP11-556I14.1	0	broad.mit.edu	37	4	105918247	105918247	+	lincRNA	DEL	T	T	-			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr4:105918247delT	ENST00000506386.1	+	0	71																											ttttttttccttttttttttt	0.318																																						ENST00000506386.1																			0																																																			0							g.chr4:105918247delT																													4.37:g.105918247delT														0	71	+									RNA	DEL	ENST00000506386.1	37																																																																																						0.318	RP11-556I14.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363584.1			3	5						3	5	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108154676	108154676	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr7:108154676delG	ENST00000422087.1	-	5	1524	c.1118delC	c.(1117-1119)acafs	p.T374fs	PNPLA8_ENST00000426128.2_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000388728.5_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000257694.8_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000436062.1_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000453144.1_Frame_Shift_Del_p.T274fs	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	374					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TGGGTCAGTTGTTCTTCTTAA	0.368																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1117-1119)aafs		patatin-like phospholipase domain containing 8							251.0	272.0	265.0					7																	108154676		2203	4300	6503	SO:0001589	frameshift_variant	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108154676delG	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1118delC	7.37:g.108154676delG	ENSP00000410804:p.Thr374fs					PNPLA8_ENST00000422087.1_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000257694.8_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000453144.1_Frame_Shift_Del_p.T274fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Frame_Shift_Del_p.T374fs|PNPLA8_ENST00000388728.5_Frame_Shift_Del_p.T374fs	p.T374fs	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			3	1243	-			374					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Frame_Shift_Del	DEL	ENST00000422087.1	37	c.1118delC	CCDS34733.1																																																																																				0.368	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		77	278						77	278	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		8	86						8	86	---	---	---	---
ZNF155	7711	broad.mit.edu	37	19	44500969	44500977	+	In_Frame_Del	DEL	ATGTGATAA	ATGTGATAA	-	rs527711390		TCGA-MZ-A6I9-01A-11D-A31L-08	TCGA-MZ-A6I9-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9b2f860-d5cb-4cca-884e-3116ade975e9	55a32649-2438-4b3c-bd15-1deebb5b9f7b	g.chr19:44500969_44500977delATGTGATAA	ENST00000270014.2	+	5	1088_1096	c.960_968delATGTGATAA	c.(958-969)acatgtgataag>acg	p.CDK321del	RP11-15A1.7_ENST00000589021.1_RNA|ZNF155_ENST00000407951.2_In_Frame_Del_p.CDK332del|RP11-15A1.7_ENST00000586860.1_RNA|ZNF155_ENST00000590615.1_In_Frame_Del_p.CDK321del	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	321					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(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGTGTGATACATGTGATAAGAGCTTTCAT	0.407																																					NSCLC(61;554 1277 20909 42067 42312)	ENST00000270014.2																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(958-969)acg>ac		zinc finger protein 155																																				SO:0001651	inframe_deletion	7711					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44500969_44500977delATGTGATAA	U09852	CCDS12634.1, CCDS58668.1	19q13.2-q13.32	2013-01-08	2006-08-22			ENSG00000204920		"""Zinc fingers, C2H2-type"", ""-"""	12940	protein-coding gene	gene with protein product		604086	"""zinc finger protein 155 (pHZ-96)"""			7557990	Standard	NM_001260486		Approved	pHZ-96	uc010xwt.2	Q12901		ENST00000270014.2:c.960_968delATGTGATAA	19.37:g.44500969_44500977delATGTGATAA	ENSP00000270014:p.Cys321_Lys323del					ZNF155_ENST00000407951.2_In_Frame_Del_p.TCDK331del|ZNF155_ENST00000590615.1_In_Frame_Del_p.TCDK320del	p.TCDK320del	NM_001260487.1|NM_198089.2	NP_001247416.1|NP_932355.2	Q12901	ZN155_HUMAN			5	1088_1096	+		Prostate(69;0.0352)	320					A2BDE6|B2RB63|B4DM95|J3KQ08|Q6AZZ8|Q9UIE1|Q9UK14	In_Frame_Del	DEL	ENST00000270014.2	37	c.960_968delATGTGATAA	CCDS12634.1																																																																																				0.407	ZNF155-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460074.1	NM_003445		18	102						18	102	---	---	---	---
