#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
VPS13B	157680	broad.mit.edu	37	8	100832176	100832176	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:100832176C>T	ENST00000358544.2	+	49	9006	c.8895C>T	c.(8893-8895)agC>agT	p.S2965S	VPS13B_ENST00000357162.2_Silent_p.S2940S|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2965					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AGTGGGATAGCCCAATGCGAG	0.393																																					Colon(161;2205 2542 7338 31318)	uc003yiv.3																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(8893-8895)agC>agT		Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.							135.0	127.0	130.0					8																	100832176		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100832176C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.8895C>T	8.37:g.100832176C>T			Somatic				VPS13B_uc003yiw.3_Silent_p.S2940S	p.S2965S	NM_017890	NP_060360	WXS	Illumina GAIIx	Phase_I	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		48	9006	+	Breast(36;3.73e-07)		2965					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.8895C>T	CCDS6280.1																																																																																				0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		19	48	0	0	0	1	0	19	48				
OR2D3	120775	broad.mit.edu	37	11	6942667	6942667	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6942667C>T	ENST00000317834.3	+	1	463	c.435C>T	c.(433-435)ccC>ccT	p.P145P		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	145						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(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCTGCAAGCCCCTGTACTACT	0.512																																						uc010rav.2																			0				breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27						c.(433-435)ccC>ccT		Homo sapiens olfactory receptor, family 2, subfamily D, member 3 (OR2D3), mRNA.							149.0	133.0	138.0					11																	6942667		2201	4296	6497	SO:0001819	synonymous_variant	120775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6942667C>T	BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.435C>T	11.37:g.6942667C>T			Somatic					p.P145P	NM_001004684	NP_001004684	WXS	Illumina GAIIx	Phase_I	Q8NGH3	OR2D3_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	0	435	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	145					B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	c.435C>T	CCDS31417.1																																																																																				0.512	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684		17	80	0	0	0	1	0	17	80				
DMXL1	1657	broad.mit.edu	37	5	118506950	118506950	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:118506950T>G	ENST00000311085.8	+	24	6544	c.6464T>G	c.(6463-6465)aTt>aGt	p.I2155S	DMXL1_ENST00000539542.1_Missense_Mutation_p.I2155S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2155										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGGAATTGATTTTGCTTTTG	0.353																																						uc010jcl.1																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6463-6465)aTt>aGt		Homo sapiens Dmx-like 1 (DMXL1), mRNA.							56.0	56.0	56.0					5																	118506950		2202	4300	6502	SO:0001583	missense	1657							g.chr5:118506950T>G	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6464T>G	5.37:g.118506950T>G	ENSP00000309690:p.Ile2155Ser		Somatic				DMXL1_uc003ksd.2_Missense_Mutation_p.I2155S|DMXL1_uc021ycw.1_Missense_Mutation_p.I1982S	p.I2155S	NM_005509	NP_005500	WXS	Illumina GAIIx	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	23	6645	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2155						Missense_Mutation	SNP	ENST00000311085.8	37	c.6464T>G	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717334	0.68844	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.78003	-1.14;-1.14	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.86146	0.5863	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.972	D	0.87741	0.2585	10	0.87932	D	0	-18.385	15.1943	0.73075	0.0:0.0:0.0:1.0	.	2155;2155	F5H269;Q9Y485	.;DMXL1_HUMAN	S	2155	ENSP00000309690:I2155S;ENSP00000439479:I2155S	ENSP00000309690:I2155S	I	+	2	0	DMXL1	118534849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.258000	0.72487	1.996000	0.58369	0.460000	0.39030	ATT		0.353	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		4	33	0	0	0	1	0	4	33				
DNAJC17	55192	broad.mit.edu	37	15	41071505	41071505	+	Missense_Mutation	SNP	C	C	A	rs376973487		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:41071505C>A	ENST00000220496.4	-	4	241	c.211G>T	c.(211-213)Gca>Tca	p.A71S		NM_018163.2	NP_060633.1	Q9NVM6	DJC17_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 17	71	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		TTGTCATATGCAGCCTGGCAG	0.542																																						uc001zms.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1)	6						c.(211-213)Gca>Tca		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 17 (DNAJC17), mRNA.							151.0	124.0	133.0					15																	41071505		2203	4300	6503	SO:0001583	missense	55192				protein folding		RNA binding|heat shock protein binding|nucleotide binding|unfolded protein binding	g.chr15:41071505C>A	AK001496	CCDS10065.1	15q15.1	2014-02-12			ENSG00000104129	ENSG00000104129		"""Heat shock proteins / DNAJ (HSP40)"", ""RNA binding motif (RRM) containing"""	25556	protein-coding gene	gene with protein product						12477932	Standard	NM_018163		Approved	FLJ10634	uc001zms.2	Q9NVM6	OTTHUMG00000130065	ENST00000220496.4:c.211G>T	15.37:g.41071505C>A	ENSP00000220496:p.Ala71Ser		Somatic				DNAJC17_uc010bbz.2_Non-coding_Transcript|DNAJC17_uc010bca.2_Non-coding_Transcript|DNAJC17_uc010bcb.2_Non-coding_Transcript	p.A71S	NM_018163	NP_060633	WXS	Illumina GAIIx	Phase_I	Q9NVM6	DJC17_HUMAN		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)	3	243	-		all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)	71			J.			Missense_Mutation	SNP	ENST00000220496.4	37	c.211G>T	CCDS10065.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525185	0.85600	.	.	ENSG00000104129	ENST00000220496	T	0.29655	1.56	5.52	5.52	0.82312	Heat shock protein DnaJ, N-terminal (4);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.48642	1.525	0.80722	D	1	P	0.35894	0.526	P	0.53185	0.72	T	0.26985	-1.0087	10	0.42905	T	0.14	.	17.2117	0.86932	0.0:1.0:0.0:0.0	.	71	Q9NVM6	DJC17_HUMAN	S	71	ENSP00000220496:A71S	ENSP00000220496:A71S	A	-	1	0	DNAJC17	38858797	1.000000	0.71417	0.993000	0.49108	0.938000	0.57974	5.805000	0.69143	2.603000	0.88011	0.650000	0.86243	GCA		0.542	DNAJC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252356.2	NM_018163		7	60	0	0	0	1	0	7	60				
HIST1H2AH	85235	broad.mit.edu	37	6	27114964	27114964	+	Silent	SNP	T	T	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr6:27114964T>G	ENST00000377459.1	+	1	104	c.57T>G	c.(55-57)tcT>tcG	p.S19S	HIST1H2BK_ENST00000356950.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	19						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						AGACCCGCTCTTCTCGGGCTG	0.622																																						uc003niz.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(55-57)tcT>tcG		Homo sapiens histone cluster 1, H2ah (HIST1H2AH), mRNA.							63.0	71.0	68.0					6																	27114964		2203	4300	6503	SO:0001819	synonymous_variant	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27114964T>G	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.57T>G	6.37:g.27114964T>G			Somatic				HIST1H2BK_uc003nix.2_5'Flank|Histone3_uc021yox.1_5'Flank|HIST1H2BK_uc021yoy.1_5'Flank|MIR3143_uc021yoz.1_5'Flank	p.S19S	NM_080596	NP_542163	WXS	Illumina GAIIx	Phase_I	Q96KK5	H2A1H_HUMAN			0	57	+			19						Silent	SNP	ENST00000377459.1	37	c.57T>G	CCDS4622.1																																																																																				0.622	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		8	70	0	0	0	1	0	8	70				
PCDHA3	56145	broad.mit.edu	37	5	140181292	140181292	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:140181292C>T	ENST00000522353.2	+	1	510	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.Y170Y|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	170	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGACTTACAGTCTTGATT	0.393																																						uc003lhf.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(508-510)taC>taT		Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.							74.0	78.0	77.0					5																	140181292		2203	4300	6503	SO:0001819	synonymous_variant	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140181292C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.510C>T	5.37:g.140181292C>T			Somatic				PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.Y170Y	p.Y170Y	NM_018906	NP_061729	WXS	Illumina GAIIx	Phase_I	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	510	+			185			Cadherin 2.		O75286	Silent	SNP	ENST00000522353.2	37	c.510C>T	CCDS54915.1																																																																																				0.393	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		6	68	0	0	0	1	0	6	68				
LUZP1	7798	broad.mit.edu	37	1	23418878	23418878	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:23418878C>A	ENST00000302291.4	-	4	2678	c.1877G>T	c.(1876-1878)gGg>gTg	p.G626V	LUZP1_ENST00000418342.1_Missense_Mutation_p.G626V|LUZP1_ENST00000314174.5_Missense_Mutation_p.G626V|LUZP1_ENST00000374623.3_Missense_Mutation_p.G626V			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	626					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TTGATTAACCCCTTCTTTATG	0.473																																						uc001bgk.2																			0		p.E625Q(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(1876-1878)gGg>gTg		Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.							181.0	180.0	180.0					1																	23418878		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23418878C>A	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.1877G>T	1.37:g.23418878C>A	ENSP00000303758:p.Gly626Val		Somatic				LUZP1_uc010odv.1_Missense_Mutation_p.G626V|LUZP1_uc001bgl.3_Missense_Mutation_p.G626V|LUZP1_uc001bgm.1_Missense_Mutation_p.G626V	p.G626V	NM_033631	NP_361013	WXS	Illumina GAIIx	Phase_I	Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	3	2427	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	626					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.1877G>T	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436190	0.25813	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.15017	2.68;2.68;2.68;2.46	5.55	2.2	0.27929	.	0.152547	0.30714	N	0.009034	T	0.17874	0.0429	L	0.51422	1.61	0.40179	D	0.977273	P;D	0.53462	0.825;0.96	P;P	0.47891	0.463;0.56	T	0.02339	-1.1174	10	0.54805	T	0.06	.	5.8231	0.18538	0.0:0.4951:0.3329:0.1721	.	626;626	Q86V48-2;Q86V48	.;LUZP1_HUMAN	V	626	ENSP00000393460:G626V;ENSP00000363752:G626V;ENSP00000303758:G626V;ENSP00000313705:G626V	ENSP00000303758:G626V	G	-	2	0	LUZP1	23291465	0.017000	0.18338	0.716000	0.30569	0.404000	0.30871	0.164000	0.16542	1.324000	0.45282	0.650000	0.86243	GGG		0.473	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		4	149	0	0	0	1	0	4	149				
OXR1	55074	broad.mit.edu	37	8	107722934	107722934	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:107722934T>C	ENST00000442977.2	+	9	1811	c.1712T>C	c.(1711-1713)tTt>tCt	p.F571S	OXR1_ENST00000312046.6_Missense_Mutation_p.F563S|OXR1_ENST00000452423.2_Missense_Mutation_p.F60S|OXR1_ENST00000517566.2_Missense_Mutation_p.F570S|OXR1_ENST00000531443.1_Missense_Mutation_p.F570S|OXR1_ENST00000445937.1_Missense_Mutation_p.F570S	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	571	Mediates oxidative antimutator activity.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AGGAAAACGTTTGTATCTCAA	0.378																																						uc011lht.2																			0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1711-1713)tTt>tCt		Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.							124.0	116.0	118.0					8																	107722934		2203	4300	6503	SO:0001583	missense	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107722934T>C	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1712T>C	8.37:g.107722934T>C	ENSP00000405424:p.Phe571Ser		Somatic				OXR1_uc022azp.1_Missense_Mutation_p.F570S|OXR1_uc003ymf.3_Missense_Mutation_p.F570S|OXR1_uc011lhu.2_Missense_Mutation_p.F563S|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.F268S	p.F571S	NM_001198532	NP_001185461	WXS	Illumina GAIIx	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		8	1811	+			571					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	c.1712T>C	CCDS56548.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861530	0.91433	.	.	ENSG00000164830	ENST00000445937;ENST00000531443;ENST00000517566;ENST00000452423;ENST00000442977;ENST00000312046	T;T;T;T;T;T	0.20598	2.48;2.48;2.39;2.06;2.39;2.49	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.53627	-0.8412	10	0.59425	D	0.04	-18.5575	16.2271	0.82306	0.0:0.0:0.0:1.0	.	563;571;570;570	Q8N573-2;Q8N573;D3HIS6;Q8N573-5	.;OXR1_HUMAN;.;.	S	570;570;570;60;571;563	ENSP00000402918:F570S;ENSP00000431966:F570S;ENSP00000429205:F570S;ENSP00000395032:F60S;ENSP00000405424:F571S;ENSP00000311026:F563S	ENSP00000311026:F563S	F	+	2	0	OXR1	107792110	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.982000	0.88131	2.234000	0.73211	0.460000	0.39030	TTT		0.378	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354		5	40	0	0	0	1	0	5	40				
BAI1	575	broad.mit.edu	37	8	143623678	143623678	+	Silent	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:143623678G>A	ENST00000517894.1	+	28	4977	c.4083G>A	c.(4081-4083)gaG>gaA	p.E1361E	BAI1_ENST00000323289.5_Silent_p.E1361E			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1361					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCCCAAGGAGGAGCCCAAGT	0.697																																						uc003ywm.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(4081-4083)gaG>gaA		Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.							26.0	36.0	33.0					8																	143623678		2096	4204	6300	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623678G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4083G>A	8.37:g.143623678G>A			Somatic					p.E1361E	NM_001702	NP_001693	WXS	Illumina GAIIx	Phase_I	O14514	BAI1_HUMAN			26	4266	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1361						Silent	SNP	ENST00000517894.1	37	c.4083G>A																																																																																					0.697	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		4	30	0	0	0	1	0	4	30				
CHRM5	1133	broad.mit.edu	37	15	34355791	34355791	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:34355791C>T	ENST00000383263.5	+	3	1543	c.873C>T	c.(871-873)agC>agT	p.S291S	CHRM5_ENST00000557872.1_Silent_p.S291S	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	291					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|dopamine transport (GO:0015872)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|gastric acid secretion (GO:0001696)|metabolic process (GO:0008152)|regulation of phosphatidylinositol dephosphorylation (GO:0060304)|transmission of nerve impulse (GO:0019226)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Imipramine(DB00458)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Ziprasidone(DB00246)	CTGGCCCAAGCGCCAATTGGG	0.632																																						uc001zhk.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20						c.(871-873)agC>agT		Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)						55.0	57.0	56.0					15																	34355791		2201	4298	6499	SO:0001819	synonymous_variant	1133				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr15:34355791C>T		CCDS10031.1	15q26	2012-08-08			ENSG00000184984	ENSG00000184984		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1954	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 5"""	118496					Standard	NM_012125		Approved		uc001zhk.1	P08912	OTTHUMG00000129369	ENST00000383263.5:c.873C>T	15.37:g.34355791C>T			Somatic				CHRM5_uc001zhl.1_Silent_p.S291S|CHRM5_uc021sir.1_Silent_p.S291S	p.S291S	NM_012125	NP_036257	WXS	Illumina GAIIx	Phase_I	P08912	ACM5_HUMAN		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	2	1543	+		all_lung(180;1.76e-08)	291					Q96RG7	Silent	SNP	ENST00000383263.5	37	c.873C>T	CCDS10031.1																																																																																				0.632	CHRM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251521.2			6	65	0	0	0	1	0	6	65				
KRTAP4-12	83755	broad.mit.edu	37	17	39280056	39280056	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr17:39280056G>C	ENST00000394014.1	-	1	363	c.319C>G	c.(319-321)Cag>Gag	p.Q107E		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	107	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		Missing (in allele KAP4.12-v1). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGGTGGTCTGACAGCAGCTG	0.677																																						uc002hwa.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(319-321)Cag>Gag		Homo sapiens keratin associated protein 4-12 (KRTAP4-12), mRNA.							41.0	49.0	46.0					17																	39280056		2190	4282	6472	SO:0001583	missense	83755					keratin filament		g.chr17:39280056G>C	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.319C>G	17.37:g.39280056G>C	ENSP00000377582:p.Gln107Glu		Somatic					p.Q107E	NM_031854	NP_114060	WXS	Illumina GAIIx	Phase_I	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		0	364	-		Breast(137;0.000496)	107		Missing (in allele KAP4.12-v1).	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Missense_Mutation	SNP	ENST00000394014.1	37	c.319C>G	CCDS32649.1	.	.	.	.	.	.	.	.	.	.	.	2.648	-0.282677	0.05642	.	.	ENSG00000213416	ENST00000394014	T	0.00583	6.41	3.97	-6.51	0.01878	.	.	.	.	.	T	0.00440	0.0014	L	0.56280	1.765	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.51395	-0.8711	9	0.02654	T	1	.	2.4906	0.04609	0.0998:0.3039:0.1585:0.4379	.	107	Q9BQ66	KR412_HUMAN	E	107	ENSP00000377582:Q107E	ENSP00000377582:Q107E	Q	-	1	0	KRTAP4-12	36533582	0.000000	0.05858	0.029000	0.17559	0.409000	0.31022	-0.019000	0.12546	-0.452000	0.07087	0.458000	0.33432	CAG		0.677	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			9	71	0	0	0	1	0	9	71				
TRPS1	7227	broad.mit.edu	37	8	116599646	116599646	+	Missense_Mutation	SNP	T	T	C	rs376187822		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:116599646T>C	ENST00000220888.5	-	4	2402	c.2243A>G	c.(2242-2244)aAt>aGt	p.N748S	TRPS1_ENST00000519674.1_Missense_Mutation_p.N748S|TRPS1_ENST00000395715.3_Missense_Mutation_p.N761S|TRPS1_ENST00000520276.1_Missense_Mutation_p.N752S|TRPS1_ENST00000519076.1_Missense_Mutation_p.N502S			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	748	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTTAGCAGATTGTAGACCCT	0.498									Langer-Giedion syndrome																													uc003yny.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111						c.(2281-2283)aAt>aGt		Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.		T	SER/ASN	0,3902		0,0,1951	192.0	198.0	196.0		2282	5.0	1.0	8		196	2,8278		0,2,4138	no	missense	TRPS1	NM_014112.2	46	0,2,6089	CC,CT,TT		0.0242,0.0,0.0164	benign	761/1295	116599646	2,12180	1951	4140	6091	SO:0001583	missense	7227	Langer-Giedion syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116599646T>C	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2243A>G	8.37:g.116599646T>C	ENSP00000220888:p.Asn748Ser		Somatic				TRPS1_uc011lhy.2_Missense_Mutation_p.N752S|TRPS1_uc003ynz.3_Missense_Mutation_p.N748S|TRPS1_uc010mcy.3_Missense_Mutation_p.N748S	p.N761S	NM_014112	NP_054831	WXS	Illumina GAIIx	Phase_I	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		4	2860	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		748			Mediates interaction with GLI3.		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.2282A>G		.	.	.	.	.	.	.	.	.	.	T	2.027	-0.423429	0.04734	0.0	2.42E-4	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.97752	-4.5;-4.48;-4.52;-4.48;1.26	5.86	4.98	0.66077	.	0.196398	0.56097	N	0.000032	D	0.89385	0.6700	N	0.02247	-0.625	0.34350	D	0.689771	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	D	0.85372	0.1114	10	0.02654	T	1	.	10.4328	0.44417	0.0:0.8498:0.0:0.1502	.	752;748;761	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	S	761;748;502;752;748	ENSP00000379065:N761S;ENSP00000220888:N748S;ENSP00000428910:N502S;ENSP00000428680:N752S;ENSP00000429174:N748S	ENSP00000220888:N748S	N	-	2	0	TRPS1	116668821	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.793000	0.47845	1.459000	0.47892	-0.242000	0.12053	AAT		0.498	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		8	162	0	0	0	1	0	8	162				
SIX5	147912	broad.mit.edu	37	19	46270388	46270388	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:46270388C>G	ENST00000317578.6	-	2	1210	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	277					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E277Q(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GACTCGTCCTCAGTCGTGGGA	0.677																																						uc002pdb.3																			1	Substitution - Missense(1)	p.E277Q(2)	lung(1)	endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(829-831)Gag>Cag		Homo sapiens SIX homeobox 5 (SIX5), mRNA.							17.0	19.0	18.0					19																	46270388		2189	4264	6453	SO:0001583	missense	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46270388C>G	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.829G>C	19.37:g.46270388C>G	ENSP00000316842:p.Glu277Gln		Somatic					p.E277Q	NM_175875	NP_787071	WXS	Illumina GAIIx	Phase_I	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	1	1224	-		Ovarian(192;0.0308)|all_neural(266;0.112)	277						Missense_Mutation	SNP	ENST00000317578.6	37	c.829G>C	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.823253	0.90873	.	.	ENSG00000177045	ENST00000317578	D	0.91124	-2.79	4.83	4.83	0.62350	.	0.797746	0.11174	N	0.591627	D	0.92795	0.7709	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91123	0.4931	10	0.56958	D	0.05	-16.4711	15.3923	0.74755	0.0:1.0:0.0:0.0	.	277	Q8N196	SIX5_HUMAN	Q	277	ENSP00000316842:E277Q	ENSP00000316842:E277Q	E	-	1	0	SIX5	50962228	1.000000	0.71417	0.764000	0.31436	0.897000	0.52465	7.286000	0.78671	2.211000	0.71520	0.561000	0.74099	GAG		0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		5	8	0	0	0	1	0	5	8				
DNMT3A	1788	broad.mit.edu	37	2	25469564	25469564	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr2:25469564G>A	ENST00000264709.3	-	10	1541	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q402*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q213*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q179*|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	402	Interaction with DNMT1 and DNMT3B.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTTGTTCTGCACCTCCACG	0.637			"""Mis, F, N, S"""		AML																																	uc002rgc.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1204-1206)Cag>Tag		Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.							78.0	76.0	76.0					2																	25469564		2203	4299	6502	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25469564G>A		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1204C>T	2.37:g.25469564G>A	ENSP00000264709:p.Gln402*		Somatic				DNMT3A_uc002rgd.3_Nonsense_Mutation_p.Q402*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.Q213*	p.Q402*	NM_022552	NP_783328	WXS	Illumina GAIIx	Phase_I	Q9Y6K1	DNM3A_HUMAN			9	1461	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		402			Interaction with DNMT1 and DNMT3B.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.1204C>T	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	G	38	6.959320	0.97964	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.87	4.87	0.63330	.	0.202763	0.42294	D	0.000724	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-10.7878	15.5438	0.76077	0.0:0.0:1.0:0.0	.	.	.	.	X	213;402;402;179	.	ENSP00000264709:Q402X	Q	-	1	0	DNMT3A	25323068	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.285000	0.65633	2.535000	0.85469	0.655000	0.94253	CAG		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		5	102	0	0	0	1	0	5	102				
MMRN2	79812	broad.mit.edu	37	10	88704974	88704974	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr10:88704974G>T	ENST00000372027.5	-	4	773	c.452C>A	c.(451-453)cCt>cAt	p.P151H	MMRN2_ENST00000488950.1_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	151					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCATCCTGAGGTTCCTGGTG	0.562																																						uc001kea.3																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(451-453)cCt>cAt		Homo sapiens multimerin 2 (MMRN2), mRNA.							68.0	56.0	60.0					10																	88704974		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88704974G>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.452C>A	10.37:g.88704974G>T	ENSP00000361097:p.Pro151His		Somatic				MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.P108H	p.P151H	NM_024756	NP_079032	WXS	Illumina GAIIx	Phase_I	Q9H8L6	MMRN2_HUMAN			3	579	-			151					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.452C>A	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	G	9.657	1.143185	0.21205	.	.	ENSG00000173269	ENST00000372027	T	0.15603	2.41	4.68	0.757	0.18427	.	1.249090	0.05393	N	0.539306	T	0.15478	0.0373	L	0.54323	1.7	0.09310	N	1	B;B	0.31581	0.063;0.329	B;B	0.25140	0.014;0.058	T	0.30387	-0.9980	10	0.54805	T	0.06	0.0062	3.4527	0.07505	0.283:0.0:0.5386:0.1784	.	90;151	B4E3H8;Q9H8L6	.;MMRN2_HUMAN	H	151	ENSP00000361097:P151H	ENSP00000361097:P151H	P	-	2	0	MMRN2	88694954	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.420000	0.21263	0.141000	0.18875	0.655000	0.94253	CCT		0.562	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		4	34	0	0	0	1	0	4	34				
TBL2	26608	broad.mit.edu	37	7	72985120	72985120	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:72985120A>C	ENST00000305632.5	-	7	1302	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	TBL2_ENST00000432538.1_Missense_Mutation_p.I318S|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	354							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTAGAGATGAATACTACTGCC	0.622																																						uc003tyh.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(1060-1062)aTt>aGt		Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.							69.0	75.0	73.0					7																	72985120		2203	4300	6503	SO:0001583	missense	26608							g.chr7:72985120A>C	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1061T>G	7.37:g.72985120A>C	ENSP00000307260:p.Ile354Ser		Somatic				TBL2_uc011kex.2_Missense_Mutation_p.I318S|TBL2_uc010lbg.3_Missense_Mutation_p.I259S|TBL2_uc003tyi.3_Missense_Mutation_p.I189S|TBL2_uc011key.2_Missense_Mutation_p.I225S	p.I354S	NM_012453	NP_036585	WXS	Illumina GAIIx	Phase_I	Q9Y4P3	TBL2_HUMAN			6	1195	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	354					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.1061T>G	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619974	0.87460	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.38240	1.15;1.15	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.248512	0.43260	D	0.000594	T	0.61689	0.2367	M	0.82433	2.59	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.64595	0.878;0.927	T	0.67565	-0.5638	10	0.87932	D	0	-14.7731	14.4016	0.67050	1.0:0.0:0.0:0.0	.	318;354	E9PF19;Q9Y4P3	.;TBL2_HUMAN	S	354;354;318	ENSP00000307260:I354S;ENSP00000413979:I318S	ENSP00000307260:I354S	I	-	2	0	TBL2	72623056	1.000000	0.71417	0.348000	0.25681	0.991000	0.79684	8.962000	0.93254	2.284000	0.76573	0.533000	0.62120	ATT		0.622	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		15	83	0	0	0	1	0	15	83				
AJAP1	55966	broad.mit.edu	37	1	4832584	4832584	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:4832584C>T	ENST00000378191.4	+	4	1543	c.1162C>T	c.(1162-1164)Cga>Tga	p.R388*	AJAP1_ENST00000378190.3_Splice_Site_p.R388*	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	388	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		TAATGGAAACCGGTAAGCTCG	0.592																																						uc001alm.1																			0				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.e4+1		Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.							36.0	38.0	37.0					1																	4832584		2203	4300	6503	SO:0001630	splice_region_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4832584C>T	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1163+1C>T	1.37:g.4832584C>T			Somatic				AJAP1_uc001aln.3_Splice_Site_p.R388_splice	p.R388_splice	NM_001042478	NP_061324	WXS	Illumina GAIIx	Phase_I	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	4	1544	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	388			Targeting signals.		Q9Y229	Splice_Site	SNP	ENST00000378191.4	37	c.1163_splice	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	36	5.869872	0.97049	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	.	.	.	5.12	1.66	0.24008	.	0.110724	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7829	11.906	0.52713	0.7006:0.2994:0.0:0.0	.	.	.	.	X	388	.	ENSP00000367432:R388X	R	+	1	2	AJAP1	4732444	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	2.713000	0.47194	0.476000	0.27440	0.561000	0.74099	CGA		0.592	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836	Nonsense_Mutation	4	26	0	0	0	1	0	4	26				
KIAA0232	9778	broad.mit.edu	37	4	6826286	6826286	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr4:6826286T>G	ENST00000307659.5	+	3	561	c.106T>G	c.(106-108)Ttg>Gtg	p.L36V	KIAA0232_ENST00000425103.1_Missense_Mutation_p.L36V	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	36							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTCATGCTTTGGGTCCAGT	0.488																																						uc003gjr.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						c.(106-108)Ttg>Gtg		Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.							198.0	199.0	198.0					4																	6826286		1977	4164	6141	SO:0001583	missense	9778						ATP binding	g.chr4:6826286T>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.106T>G	4.37:g.6826286T>G	ENSP00000303928:p.Leu36Val		Somatic				KIAA0232_uc003gjq.4_Missense_Mutation_p.L36V	p.L36V	NM_014743	NP_055558	WXS	Illumina GAIIx	Phase_I	Q92628	K0232_HUMAN			2	569	+			36					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.106T>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834290	0.71373	.	.	ENSG00000170871	ENST00000508423;ENST00000425103;ENST00000307659	.	.	.	5.93	-3.62	0.04543	.	0.000000	0.85682	D	0.000000	T	0.64811	0.2632	L	0.53249	1.67	0.39055	D	0.960419	D	0.89917	1.0	D	0.85130	0.997	T	0.64245	-0.6453	8	.	.	.	-13.4343	12.4188	0.55508	0.0:0.4348:0.0:0.5652	.	36	Q92628	K0232_HUMAN	V	36	.	.	L	+	1	2	KIAA0232	6877187	1.000000	0.71417	0.254000	0.24359	0.999000	0.98932	1.524000	0.35942	-0.627000	0.05589	0.533000	0.62120	TTG		0.488	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		4	101	0	0	0	1	0	4	101				
PCSK6	5046	broad.mit.edu	37	15	101972253	101972253	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:101972253C>T	ENST00000348070.1	-	4	451	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	PCSK6_ENST00000358417.3_Missense_Mutation_p.R151Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R151Q|PCSK6_ENST00000331826.7_5'Flank|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	152					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.R151Q(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGGTCACTTCGCACCTGTCT	0.483																																						uc002bxa.2																			2	Substitution - Missense(2)	p.R151Q(3)	large_intestine(2)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(451-453)cGa>cAa		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.							97.0	114.0	109.0					15																	101972253		1943	4128	6071	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101972253C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.452G>A	15.37:g.101972253C>T	ENSP00000305056:p.Arg151Gln		Somatic				PCSK6_uc010bpd.3_Missense_Mutation_p.R22Q|PCSK6_uc002bwy.3_Missense_Mutation_p.R151Q|PCSK6_uc010bpe.3_Missense_Mutation_p.R148Q|PCSK6_uc002bxb.2_Missense_Mutation_p.R151Q|PCSK6_uc002bxc.1_Missense_Mutation_p.R151Q|PCSK6_uc002bxd.1_Missense_Mutation_p.R151Q|PCSK6_uc002bxe.3_Missense_Mutation_p.R151Q|PCSK6_uc002bxg.1_Missense_Mutation_p.R151Q	p.R151Q	NM_138320	NP_612193	WXS	Illumina GAIIx	Phase_I	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	766	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		152			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.452G>A		.	.	.	.	.	.	.	.	.	.	C	14.18	2.457088	0.43634	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.64	3.71	0.42584	.	0.391386	0.23508	N	0.047431	T	0.30759	0.0775	L	0.37561	1.115	0.26164	N	0.979957	B;B;B;B;B;B;B;B;B	0.26363	0.014;0.008;0.013;0.147;0.051;0.091;0.043;0.068;0.024	B;B;B;B;B;B;B;B;B	0.18263	0.002;0.002;0.011;0.021;0.004;0.009;0.008;0.013;0.004	T	0.16808	-1.0390	10	0.38643	T	0.18	-11.3901	10.7966	0.46464	0.0:0.7979:0.1303:0.0719	.	152;57;151;152;151;151;152;152;151	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	Q	151;151;56;151;151	ENSP00000305056:R151Q;ENSP00000351193:R151Q;ENSP00000344410:R151Q;ENSP00000381243:R151Q	ENSP00000344410:R151Q	R	-	2	0	PCSK6	99789776	0.968000	0.33430	0.828000	0.32881	0.962000	0.63368	2.360000	0.44151	1.355000	0.45865	0.555000	0.69702	CGA		0.483	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		3	14	0	0	0	1	0	3	14				
POLR3D	661	broad.mit.edu	37	8	22107993	22107993	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:22107993C>T	ENST00000397802.4	+	8	1374	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	POLR3D_ENST00000306433.4_Missense_Mutation_p.P387S			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	387					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TGTATGTTCCCCTGATTTTGA	0.547																																						uc003xbl.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(1159-1161)Cct>Tct		Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.							205.0	178.0	187.0					8																	22107993		2203	4300	6503	SO:0001583	missense	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22107993C>T	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.1159C>T	8.37:g.22107993C>T	ENSP00000380904:p.Pro387Ser		Somatic				POLR3D_uc003xbm.3_Missense_Mutation_p.P387S|POLR3D_uc011kze.2_Non-coding_Transcript	p.P387S	NM_001722	NP_001713	WXS	Illumina GAIIx	Phase_I	P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	8	1242	+			387					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	c.1159C>T	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299019	0.81025	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.42	4.55	0.56014	.	0.049207	0.85682	D	0.000000	D	0.84973	0.5591	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88229	0.2902	9	0.87932	D	0	-15.4727	13.1527	0.59498	0.0:0.9214:0.0:0.0786	.	387	P05423	RPC4_HUMAN	S	387	.	ENSP00000303088:P387S	P	+	1	0	POLR3D	22163938	1.000000	0.71417	0.326000	0.25389	0.887000	0.51463	7.658000	0.83755	1.286000	0.44565	0.491000	0.48974	CCT		0.547	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		5	83	0	0	0	1	0	5	83				
FAN1	22909	broad.mit.edu	37	15	31202968	31202968	+	Silent	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr15:31202968C>T	ENST00000362065.4	+	4	1818	c.1527C>T	c.(1525-1527)gtC>gtT	p.V509V	FAN1_ENST00000565466.1_Silent_p.V509V|FAN1_ENST00000561594.1_Silent_p.V509V|FAN1_ENST00000561607.1_Silent_p.V509V	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	509					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AGCGTTCAGTCTGCACTTGGG	0.418								Direct reversal of damage																														uc001zff.3																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(1525-1527)gtC>gtT	Direct reversal of damage	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.							91.0	87.0	89.0					15																	31202968		2202	4300	6502	SO:0001819	synonymous_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31202968C>T		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1527C>T	15.37:g.31202968C>T			Somatic				FAN1_uc001zfc.3_Silent_p.V509V|FAN1_uc010azw.2_Silent_p.V509V|FAN1_uc001zfd.3_Silent_p.V509V|FAN1_uc001zfe.3_Silent_p.V114V	p.V509V	NM_014967	NP_055782	WXS	Illumina GAIIx	Phase_I	Q9Y2M0	FAN1_HUMAN			3	1818	+			509					A8K4M2|Q86WU8	Silent	SNP	ENST00000362065.4	37	c.1527C>T	CCDS32186.1																																																																																				0.418	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		9	32	0	0	0	1	0	9	32				
HOMER1	9456	broad.mit.edu	37	5	78752789	78752789	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:78752789T>A	ENST00000334082.6	-	2	1500	c.58A>T	c.(58-60)Aca>Tca	p.T20S	HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.T20S|HOMER1_ENST00000508576.1_Missense_Mutation_p.T20S	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	20	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|chemical homeostasis within a tissue (GO:0048875)|circadian rhythm (GO:0007623)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of signal transduction (GO:0009967)|protein localization to synapse (GO:0035418)|regulation of calcium ion import (GO:0090279)|regulation of cation channel activity (GO:2001257)|regulation of store-operated calcium entry (GO:2001256)|response to calcium ion (GO:0051592)|response to nicotine (GO:0035094)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell junction (GO:0030054)|costamere (GO:0043034)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|signaling adaptor activity (GO:0035591)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		TTCTTCTTTGTGTTTGGGTCA	0.423																																						uc003kfy.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14						c.(58-60)Aca>Tca		Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.							251.0	235.0	240.0					5																	78752789		1900	4119	6019	SO:0001583	missense	9456				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane		g.chr5:78752789T>A	BC015502	CCDS43335.1, CCDS64188.1, CCDS64189.1	5q14.2	2008-02-05			ENSG00000152413	ENSG00000152413			17512	protein-coding gene	gene with protein product		604798				9808459, 9808458	Standard	NM_004272		Approved	Ves-1, SYN47, HOMER-1B	uc003kfy.4	Q86YM7	OTTHUMG00000134278	ENST00000334082.6:c.58A>T	5.37:g.78752789T>A	ENSP00000334382:p.Thr20Ser		Somatic				HOMER1_uc010jab.3_Missense_Mutation_p.T20S|HOMER1_uc010jac.3_Missense_Mutation_p.T20S|HOMER1_uc010jad.3_Intron	p.T20S	NM_004272	NP_004263	WXS	Illumina GAIIx	Phase_I	Q86YM7	HOME1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)	1	1161	-		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)	20			WH1.		B2R688|O96003|Q86YM5	Missense_Mutation	SNP	ENST00000334082.6	37	c.58A>T	CCDS43335.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.970294	0.74246	.	.	ENSG00000152413	ENST00000334082;ENST00000508576;ENST00000282260	D;D;D	0.98649	-5.05;-5.05;-5.05	5.93	5.93	0.95920	EVH1 (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	M	0.79805	2.47	0.80722	D	1	P;D;D	0.89917	0.695;0.963;1.0	P;P;D	0.87578	0.768;0.844;0.998	D	0.99780	1.1027	10	0.62326	D	0.03	-9.2544	16.3766	0.83401	0.0:0.0:0.0:1.0	.	20;20;20	Q86YM7-2;Q86YM7-3;Q86YM7	.;.;HOME1_HUMAN	S	20	ENSP00000334382:T20S;ENSP00000426651:T20S;ENSP00000282260:T20S	ENSP00000282260:T20S	T	-	1	0	HOMER1	78788545	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.263000	0.75096	0.533000	0.62120	ACA		0.423	HOMER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258856.1	NM_004272		4	118	0	0	0	1	0	4	118				
OR56A1	120796	broad.mit.edu	37	11	6048624	6048624	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:6048624C>T	ENST00000316650.5	-	1	347	c.311G>A	c.(310-312)tGc>tAc	p.C104Y		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGAGGAAGCAGGCAGGGAA	0.552																																						uc010qzw.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33						c.(310-312)tGc>tAc		Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.							109.0	95.0	100.0					11																	6048624		2201	4296	6497	SO:0001583	missense	120796				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6048624C>T	AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.311G>A	11.37:g.6048624C>T	ENSP00000321246:p.Cys104Tyr		Somatic					p.C104Y	NM_001001917	NP_001001917	WXS	Illumina GAIIx	Phase_I	Q8NGH5	O56A1_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	348	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	104					B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	c.311G>A	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.453029	0.26161	.	.	ENSG00000180934	ENST00000316650	T	0.00547	6.66	4.16	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000265	T	0.03095	0.0091	H	0.98333	4.205	0.48696	D	0.999698	B	0.33528	0.416	P	0.44647	0.456	T	0.00067	-1.2142	10	0.87932	D	0	.	15.528	0.75928	0.0:1.0:0.0:0.0	.	104	Q8NGH5	O56A1_HUMAN	Y	104	ENSP00000321246:C104Y	ENSP00000321246:C104Y	C	-	2	0	OR56A1	6005200	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.529000	0.67135	2.303000	0.77524	0.655000	0.94253	TGC		0.552	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917		4	53	0	0	0	1	0	4	53				
TMF1	7110	broad.mit.edu	37	3	69088082	69088082	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr3:69088082C>G	ENST00000398559.2	-	7	2122	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.E639Q|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	636					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGATCTTTCTCTTGGCGTTCT	0.373																																						uc011bfx.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1915-1917)Gag>Cag		Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.							144.0	131.0	135.0					3																	69088082		1845	4084	5929	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69088082C>G		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.1906G>C	3.37:g.69088082C>G	ENSP00000381567:p.Glu636Gln		Somatic				TMF1_uc003dnn.3_Missense_Mutation_p.E636Q	p.E639Q	NM_007114	NP_009045	WXS	Illumina GAIIx	Phase_I	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	6	2162	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	636					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.1915G>C	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	19.37	3.815256	0.70912	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.21932	1.98;1.98	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.47005	-0.9150	10	0.54805	T	0.06	-15.5026	19.486	0.95028	0.0:1.0:0.0:0.0	.	639;636	P82094-2;P82094	.;TMF1_HUMAN	Q	636;639;552	ENSP00000381567:E636Q;ENSP00000438706:E639Q	ENSP00000348582:E552Q	E	-	1	0	TMF1	69170772	1.000000	0.71417	0.999000	0.59377	0.228000	0.25075	7.670000	0.83925	2.615000	0.88500	0.573000	0.79308	GAG		0.373	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114		4	40	0	0	0	1	0	4	40				
CIDEA	1149	broad.mit.edu	37	18	12274153	12274153	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr18:12274153T>A	ENST00000320477.9	+	4	457	c.392T>A	c.(391-393)tTc>tAc	p.F131Y	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	131					apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGAGTCACCTTCGACTTGTAC	0.597																																						uc002kqu.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						c.(493-495)tTc>tAc		Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 2, non-coding RNA.							153.0	120.0	131.0					18																	12274153		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12274153T>A	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.392T>A	18.37:g.12274153T>A	ENSP00000320209:p.Phe131Tyr		Somatic				CIDEA_uc002kqt.4_Missense_Mutation_p.F131Y|CIDEA_uc010dlc.3_Non-coding_Transcript	p.F165Y			WXS	Illumina GAIIx	Phase_I	O60543	CIDEA_HUMAN			3	950	+			131					B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.494T>A	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725212	0.68959	.	.	ENSG00000176194	ENST00000320477	D	0.83163	-1.69	5.31	5.31	0.75309	.	0.060018	0.64402	D	0.000003	D	0.90686	0.7078	M	0.86268	2.805	0.58432	D	0.999992	D;D	0.71674	0.998;0.976	P;P	0.61328	0.887;0.686	D	0.92218	0.5782	10	0.72032	D	0.01	-26.774	14.936	0.70954	0.0:0.0:0.0:1.0	.	165;131	Q8N5P9;O60543	.;CIDEA_HUMAN	Y	131	ENSP00000320209:F131Y	ENSP00000320209:F131Y	F	+	2	0	CIDEA	12264153	1.000000	0.71417	0.994000	0.49952	0.025000	0.11179	7.028000	0.76470	2.022000	0.59522	0.533000	0.62120	TTC		0.597	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		11	65	0	0	0	1	0	11	65				
HIST3H2A	92815	broad.mit.edu	37	1	228645400	228645400	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr1:228645400T>C	ENST00000366695.2	-	1	160	c.119A>G	c.(118-120)tAt>tGt	p.Y40C	HIST3H2BB_ENST00000369160.2_5'Flank	NM_033445.2	NP_254280.1	Q7L7L0	H2A3_HUMAN	histone cluster 3, H2a	40					nucleosome disassembly (GO:0006337)|UV-damage excision repair (GO:0070914)	extracellular vesicular exosome (GO:0070062)|nuclear nucleosome (GO:0000788)	DNA binding (GO:0003677)			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				GCGCTCCGAATAGTTGCCCTT	0.721																																						uc001hsy.3																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(118-120)tAt>tGt		Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.							16.0	20.0	19.0					1																	228645400		2197	4295	6492	SO:0001583	missense	92815				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645400T>C	AY131974	CCDS1573.1	1q42.13	2011-01-27	2006-10-11		ENSG00000181218	ENSG00000181218		"""Histones / Replication-dependent"""	20507	protein-coding gene	gene with protein product		615015	"""histone 3, H2a"""			12408966	Standard	NM_033445		Approved	MGC3165	uc001hsy.3	Q7L7L0	OTTHUMG00000040046	ENST00000366695.2:c.119A>G	1.37:g.228645400T>C	ENSP00000355656:p.Tyr40Cys		Somatic				HIST3H2BB_uc001hsz.3_5'Flank	p.Y40C	NM_033445	NP_254280	WXS	Illumina GAIIx	Phase_I	Q7L7L0	H2A3_HUMAN			0	161	-		Prostate(94;0.183)	40					B2R4S4	Missense_Mutation	SNP	ENST00000366695.2	37	c.119A>G	CCDS1573.1	.	.	.	.	.	.	.	.	.	.	.	13.12	2.142140	0.37825	.	.	ENSG00000181218	ENST00000366695	T	0.69806	-0.43	4.07	4.07	0.47477	Histone-fold (2);Histone core (1);Histone H2A (1);	0.000000	0.43747	D	0.000529	D	0.85639	0.5743	H	0.99130	4.44	0.43835	D	0.996416	D	0.56035	0.974	P	0.54664	0.758	D	0.90450	0.4438	10	0.87932	D	0	.	11.646	0.51261	0.0:0.0:0.0:1.0	.	40	Q7L7L0	H2A3_HUMAN	C	40	ENSP00000355656:Y40C	ENSP00000355656:Y40C	Y	-	2	0	HIST3H2A	226712023	1.000000	0.71417	0.124000	0.21820	0.151000	0.21798	7.262000	0.78410	2.062000	0.61559	0.533000	0.62120	TAT		0.721	HIST3H2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096598.1	NM_033445		3	20	0	0	0	1	0	3	20				
DYNC2H1	79659	broad.mit.edu	37	11	102999693	102999693	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr11:102999693A>G	ENST00000375735.2	+	13	2056	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.M638V|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.M638V	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	638	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCAGAGGCCAATGATGTTACA	0.259																																						uc001phn.1																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(1912-1914)Atg>Gtg		Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.							57.0	58.0	58.0					11																	102999693		1802	4053	5855	SO:0001583	missense	79659				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102999693A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1912A>G	11.37:g.102999693A>G	ENSP00000364887:p.Met638Val		Somatic				DYNC2H1_uc009yxe.1_Missense_Mutation_p.M638V|DYNC2H1_uc001pho.2_Missense_Mutation_p.M638V	p.M638V	NM_001080463	NP_001073932	WXS	Illumina GAIIx	Phase_I	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	12	2056	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	638			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.1912A>G	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096315	0.76870	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.54675	0.56;0.56;0.56	5.17	5.17	0.71159	Dynein heavy chain, domain-1 (1);	0.351400	0.24020	U	0.042287	T	0.72622	0.3483	M	0.83953	2.67	0.51012	D	0.999901	D;P;D	0.58268	0.982;0.925;0.964	D;P;P	0.68943	0.961;0.803;0.841	T	0.74368	-0.3688	10	0.41790	T	0.15	.	13.878	0.63665	1.0:0.0:0.0:0.0	.	638;638;638	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	V	638	ENSP00000364887:M638V;ENSP00000334021:M638V;ENSP00000381167:M638V	ENSP00000334021:M638V	M	+	1	0	DYNC2H1	102504903	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.838000	0.92115	2.087000	0.62958	0.533000	0.62120	ATG		0.259	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	35	0	0	0	1	0	3	35				
SLC38A4	55089	broad.mit.edu	37	12	47172402	47172402	+	Missense_Mutation	SNP	C	C	T	rs189669525	byFrequency	TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:47172402C>T	ENST00000447411.1	-	10	1081	c.875G>A	c.(874-876)cGc>cAc	p.R292H	SLC38A4_ENST00000266579.4_Missense_Mutation_p.R292H	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	292					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)	p.R292H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TGCAGGATTGCGGTGGGTGTA	0.458																																						uc001rpi.2																			1	Substitution - Missense(1)	p.R292H(2)	endometrium(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(874-876)cGc>cAc		Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.							116.0	104.0	108.0					12																	47172402		2203	4299	6502	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47172402C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.875G>A	12.37:g.47172402C>T	ENSP00000389843:p.Arg292His		Somatic				SLC38A4_uc001rpj.2_Missense_Mutation_p.R292H	p.R292H	NM_018018	NP_060488	WXS	Illumina GAIIx	Phase_I	Q969I6	S38A4_HUMAN			10	1274	-	Lung SC(27;0.192)|Renal(347;0.236)		292					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.875G>A	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649611	0.29336	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.04119	3.7;3.7	4.91	-1.52	0.08637	.	0.991659	0.08198	N	0.982792	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46925	-0.9156	10	0.32370	T	0.25	0.0169	10.3171	0.43743	0.0:0.4305:0.0:0.5695	.	292	Q969I6	S38A4_HUMAN	H	292	ENSP00000389843:R292H;ENSP00000266579:R292H	ENSP00000266579:R292H	R	-	2	0	SLC38A4	45458669	0.000000	0.05858	0.002000	0.10522	0.942000	0.58702	-0.503000	0.06383	-0.352000	0.08237	0.484000	0.47621	CGC		0.458	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			7	72	0	0	0	1	0	7	72				
CPSF6	11052	broad.mit.edu	37	12	69651614	69651614	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr12:69651614C>T	ENST00000435070.2	+	5	733	c.623C>T	c.(622-624)cCa>cTa	p.P208L	CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.P208L	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	208	Pro-rich.				mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGCCGTTTTCCAGGGGCTGTT	0.542																																						uc001suu.4																			0				endometrium(1)|large_intestine(7)|lung(8)	16						c.(622-624)cCa>cTa		Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.							96.0	99.0	98.0					12																	69651614		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69651614C>T	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.623C>T	12.37:g.69651614C>T	ENSP00000391774:p.Pro208Leu		Somatic				CPSF6_uc001sut.4_Missense_Mutation_p.P208L|CPSF6_uc010stk.2_5'Flank	p.P208L	NM_007007	NP_008938	WXS	Illumina GAIIx	Phase_I	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		4	733	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		208			Pro-rich.		A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.623C>T	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387625	0.61956	.	.	ENSG00000111605	ENST00000435070;ENST00000266679	.	.	.	5.51	5.51	0.81932	.	0.046292	0.85682	D	0.000000	T	0.77350	0.4117	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.74565	-0.3623	8	.	.	.	-5.7434	19.8051	0.96529	0.0:1.0:0.0:0.0	.	208;208	Q16630-2;Q16630	.;CPSF6_HUMAN	L	208	.	.	P	+	2	0	CPSF6	67937881	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.578000	0.82498	2.763000	0.94921	0.563000	0.77884	CCA		0.542	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007		14	101	0	0	0	1	0	14	101				
DLC1	10395	broad.mit.edu	37	8	12956022	12956022	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr8:12956022A>G	ENST00000276297.4	-	10	3462	c.3053T>C	c.(3052-3054)cTa>cCa	p.L1018P	DLC1_ENST00000512044.2_Missense_Mutation_p.L615P|DLC1_ENST00000358919.2_Missense_Mutation_p.L581P|DLC1_ENST00000520226.1_Missense_Mutation_p.L507P|DLC1_ENST00000510318.1_5'Flank	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1018					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GTTAATCTGTAGTGATACAGA	0.502																																						uc003wwm.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(3052-3054)cTa>cCa		Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.							95.0	86.0	89.0					8																	12956022		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12956022A>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3053T>C	8.37:g.12956022A>G	ENSP00000276297:p.Leu1018Pro		Somatic				DLC1_uc003wwk.1_Missense_Mutation_p.L581P|DLC1_uc003wwl.1_Missense_Mutation_p.L615P|DLC1_uc011kxx.1_Missense_Mutation_p.L507P	p.L1018P	NM_182643	NP_872584	WXS	Illumina GAIIx	Phase_I	Q96QB1	RHG07_HUMAN			9	3497	-			1018					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.3053T>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.430952	0.43122	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.07908	3.41;3.16;3.16;3.15	4.8	3.67	0.42095	.	0.091551	0.49305	D	0.000152	T	0.10252	0.0251	L	0.58925	1.835	0.80722	D	1	B;B;B	0.19200	0.014;0.034;0.021	B;B;B	0.20384	0.022;0.029;0.013	T	0.05500	-1.0881	10	0.44086	T	0.13	.	11.0334	0.47787	0.923:0.0:0.077:0.0	.	1018;615;581	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	P	1018;581;615;507	ENSP00000276297:L1018P;ENSP00000351797:L581P;ENSP00000422595:L615P;ENSP00000428028:L507P	ENSP00000276297:L1018P	L	-	2	0	DLC1	13000393	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	7.280000	0.78610	2.150000	0.67090	0.528000	0.53228	CTA		0.502	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		4	53	0	0	0	1	0	4	53				
HAS1	3036	broad.mit.edu	37	19	52217155	52217155	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr19:52217155C>T	ENST00000222115.1	-	5	1296	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	HAS1_ENST00000601714.1_Missense_Mutation_p.R428H|HAS1_ENST00000540069.2_Missense_Mutation_p.R420H|HAS1_ENST00000594621.1_3'UTR	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	421					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTAGAACAGACGCAGCACAGT	0.701																																					NSCLC(132;636 2450 45807 47979)	uc002pxn.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(1282-1284)cGt>cAt		Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.							37.0	35.0	36.0					19																	52217155		2197	4299	6496	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52217155C>T	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1262G>A	19.37:g.52217155C>T	ENSP00000222115:p.Arg421His		Somatic				HAS1_uc010epc.1_Missense_Mutation_p.R21H|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Missense_Mutation_p.R421H|HAS1_uc002pxp.1_Missense_Mutation_p.R420H	p.R428H	NM_001523	NP_001514	WXS	Illumina GAIIx	Phase_I	Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	3	1296	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	421					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.1283G>A	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	c	8.231	0.804615	0.16467	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.59502	0.26;0.26	3.19	3.19	0.36642	.	0.233762	0.36002	U	0.002847	T	0.41834	0.1176	L	0.29908	0.895	0.35158	D	0.770415	B;B;B	0.27656	0.147;0.184;0.184	B;B;B	0.24269	0.052;0.023;0.023	T	0.50625	-0.8806	10	0.22706	T	0.39	-22.0425	12.2755	0.54733	0.0:1.0:0.0:0.0	.	420;421;420	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	H	420;421	ENSP00000445021:R420H;ENSP00000222115:R421H	ENSP00000222115:R421H	R	-	2	0	HAS1	56908967	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	1.662000	0.37418	1.812000	0.52913	0.165000	0.16767	CGT		0.701	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		13	15	0	0	0	1	0	13	15				
FASTKD3	79072	broad.mit.edu	37	5	7868025	7868025	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr5:7868025G>A	ENST00000264669.5	-	2	308	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000264668.2_5'Flank|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	58					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGGCATGATGGAATTTGACC	0.433																																						uc003jeb.3																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(172-174)Cat>Tat		Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.							92.0	95.0	94.0					5																	7868025		2203	4300	6503	SO:0001583	missense	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7868025G>A	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.172C>T	5.37:g.7868025G>A	ENSP00000264669:p.His58Tyr		Somatic				FASTKD3_uc011cmp.2_Intron|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	p.H58Y	NM_024091	NP_076996	WXS	Illumina GAIIx	Phase_I	Q14CZ7	FAKD3_HUMAN			1	344	-			58					Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	37	c.172C>T	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	G	3.204	-0.163170	0.06502	.	.	ENSG00000124279	ENST00000264669;ENST00000504695;ENST00000507572	T;T;T	0.24538	1.85;1.85;1.85	5.05	3.26	0.37387	.	0.763697	0.12048	N	0.504390	T	0.21962	0.0529	L	0.48362	1.52	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.25152	-1.0140	10	0.20519	T	0.43	-1.4451	9.8793	0.41222	0.1615:0.0:0.8385:0.0	.	58	Q14CZ7	FAKD3_HUMAN	Y	58;58;41	ENSP00000264669:H58Y;ENSP00000426008:H58Y;ENSP00000422443:H41Y	ENSP00000264669:H58Y	H	-	1	0	FASTKD3	7921025	0.082000	0.21442	0.002000	0.10522	0.001000	0.01503	1.954000	0.40362	0.718000	0.32166	-0.136000	0.14681	CAT		0.433	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091		12	51	0	0	0	1	0	12	51				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		28	46	0	0	0	1	0	28	46				
UVSSA	57654	broad.mit.edu	37	4	1347109	1347109	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr4:1347109C>G	ENST00000389851.4	+	5	1289	c.842C>G	c.(841-843)tCa>tGa	p.S281*	UVSSA_ENST00000511216.1_Nonsense_Mutation_p.S281*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.S281*	NM_020894.2	NP_065945.2	Q2YD98	UVSSA_HUMAN	UV-stimulated scaffold protein A	281					protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)	RNA polymerase II core binding (GO:0000993)										GGTGACCCCTCAGATGAGGAC	0.662																																						uc003gde.4																			0											c.(841-843)tCa>tGa		Homo sapiens KIAA1530 (KIAA1530), mRNA.							17.0	18.0	18.0					4																	1347109		2194	4284	6478	SO:0001587	stop_gained	57654							g.chr4:1347109C>G	BC021930	CCDS33938.1	4p16.3	2012-04-27	2012-04-27	2012-04-27		ENSG00000163945			29304	protein-coding gene	gene with protein product		614632	"""KIAA1530"""	KIAA1530		10819331, 22466610, 22466611, 22466612	Standard	NM_020894		Approved		uc003gde.4	Q2YD98		ENST00000389851.4:c.842C>G	4.37:g.1347109C>G	ENSP00000374501:p.Ser281*		Somatic					p.S281*	NM_020894	NP_065945	WXS	Illumina GAIIx	Phase_I	Q2YD98	K1530_HUMAN			4	1289	+			281					A8K9E6|B2RU11|Q8WTX4|Q9P1Z8	Nonsense_Mutation	SNP	ENST00000389851.4	37	c.842C>G	CCDS33938.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808368	0.90707	.	.	ENSG00000163945	ENST00000511216;ENST00000389851;ENST00000507531	.	.	.	2.83	-0.72	0.11195	.	6.878550	0.00465	N	0.000110	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	2.0479	0.03564	0.1427:0.4563:0.141:0.26	.	.	.	.	X	281	.	ENSP00000374501:S281X	S	+	2	0	KIAA1530	1337109	0.001000	0.12720	0.058000	0.19502	0.202000	0.24057	0.126000	0.15769	0.024000	0.15214	0.591000	0.81541	TCA		0.662	UVSSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359480.1	NM_020894		4	18	0	0	0	1	0	4	18				
CCM2L	140706	broad.mit.edu	37	20	30602787	30602787	+	Silent	SNP	G	G	A			TCGA-EL-A3CR-01A-12D-A202-08	TCGA-EL-A3CR-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1389f11b-6b68-4227-990a-5e6fcf476ebb	3381e87b-fd31-4d66-b6f9-cc7627de79b5	g.chr20:30602787G>A	ENST00000300415.8	+	2	124	c.111G>A	c.(109-111)cgG>cgA	p.R37R	CCM2L_ENST00000262659.8_Silent_p.R37R			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	37																	TGAGCCGCCGGCCCCTGCACT	0.632																																						uc002wxf.2																			0				central_nervous_system(3)|endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	23						c.(109-111)cgG>cgA		Homo sapiens chromosome 20 open reading frame 160 (C20orf160), mRNA.							74.0	73.0	73.0					20																	30602787		2203	4300	6503	SO:0001819	synonymous_variant	140706							g.chr20:30602787G>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.111G>A	20.37:g.30602787G>A			Somatic					p.R37R	NM_080625	NP_542192	WXS	Illumina GAIIx	Phase_I	Q9NUG4	CT160_HUMAN			1	124	+			37					Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Silent	SNP	ENST00000300415.8	37	c.111G>A																																																																																					0.632	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		5	80	0	0	0	1	0	5	80				
