#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
CSMD2	114784	broad.mit.edu	37	1	34011735	34011735	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:34011735A>G	ENST00000373381.4	-	57	9178	c.9002T>C	c.(9001-9003)aTg>aCg	p.M3001T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2974	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCTGAAGCGCATCACAGTGCC	0.617																																						uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9001-9003)aTg>aCg		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							75.0	66.0	69.0					1																	34011735		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34011735A>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9002T>C	1.37:g.34011735A>G	ENSP00000362479:p.Met3001Thr		Somatic				CSMD2_uc001bxn.1_Missense_Mutation_p.M2857T	p.M3001T	NM_052896	NP_443128	WXS	Illumina GAIIx	Phase_I	Q7Z408	CSMD2_HUMAN			56	9179	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2974			Sushi 22.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9002T>C		.	.	.	.	.	.	.	.	.	.	A	16.11	3.030891	0.54790	.	.	ENSG00000121904	ENST00000373381	T	0.63913	-0.07	4.97	4.97	0.65823	Complement control module (2);Sushi/SCR/CCP (3);	0.338945	0.31415	N	0.007692	T	0.47746	0.1462	N	0.11698	0.16	0.80722	D	1	B;B	0.22604	0.017;0.072	B;B	0.29524	0.065;0.103	T	0.51301	-0.8723	10	0.87932	D	0	.	13.9925	0.64376	1.0:0.0:0.0:0.0	.	2857;3001	Q7Z408;E7EUA6	CSMD2_HUMAN;.	T	3001	ENSP00000362479:M3001T	ENSP00000241312:M2857T	M	-	2	0	CSMD2	33784322	1.000000	0.71417	0.851000	0.33527	0.789000	0.44602	9.031000	0.93731	2.094000	0.63399	0.528000	0.53228	ATG		0.617	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		34	24	0	0	0	1	0	34	24				
HEATR6	63897	broad.mit.edu	37	17	58143675	58143675	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:58143675T>A	ENST00000184956.6	-	9	1327	c.1311A>T	c.(1309-1311)aaA>aaT	p.K437N	HEATR6_ENST00000585976.1_Missense_Mutation_p.K437N	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	437							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CATAAAGAACTTTTTTTTCTA	0.383																																						uc002iyk.1																			0				NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(1309-1311)aaA>aaT		Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.							46.0	54.0	51.0					17																	58143675		2201	4300	6501	SO:0001583	missense	63897						binding	g.chr17:58143675T>A	BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.1311A>T	17.37:g.58143675T>A	ENSP00000184956:p.Lys437Asn		Somatic				HEATR6_uc010ddk.1_5'UTR|HEATR6_uc010wos.1_Missense_Mutation_p.K269N	p.K437N	NM_022070	NP_071353	WXS	Illumina GAIIx	Phase_I	Q6AI08	HEAT6_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)		8	1328	-	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		437					B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	ENST00000184956.6	37	c.1311A>T	CCDS11623.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231215	0.58777	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.47528	0.84	5.8	4.73	0.59995	Armadillo-type fold (1);	0.130840	0.64402	D	0.000001	T	0.50769	0.1635	L	0.54323	1.7	0.30914	N	0.728794	P;P	0.51147	0.942;0.901	P;P	0.51079	0.658;0.506	T	0.59621	-0.7420	10	0.72032	D	0.01	-12.3257	8.428	0.32739	0.0:0.1484:0.0:0.8516	.	284;437	E7ESB9;Q6AI08	.;HEAT6_HUMAN	N	437;284	ENSP00000184956:K437N	ENSP00000184956:K437N	K	-	3	2	HEATR6	55498457	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.679000	0.25291	1.160000	0.42584	0.524000	0.50904	AAA		0.383	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449165.1	NM_022070		16	40	0	0	0	1	0	16	40				
ARHGEF6	9459	broad.mit.edu	37	X	135767911	135767911	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chrX:135767911C>A	ENST00000250617.6	-	12	2522	c.1317G>T	c.(1315-1317)tgG>tgT	p.W439C	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.W285C|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.W312C|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.W285C	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	439					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CTTCTCCTTCCCATGCCTGAA	0.393																																						uc004fab.3																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38						c.(1315-1317)tgG>tgT		Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.							161.0	130.0	140.0					X																	135767911		2203	4300	6503	SO:0001583	missense	9459				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chrX:135767911C>A	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1317G>T	X.37:g.135767911C>A	ENSP00000250617:p.Trp439Cys		Somatic				ARHGEF6_uc011mwd.2_Missense_Mutation_p.W312C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.W285C	p.W439C	NM_004840	NP_004831	WXS	Illumina GAIIx	Phase_I	Q15052	ARHG6_HUMAN			11	1779	-	Acute lymphoblastic leukemia(192;0.000127)		439					A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	ENST00000250617.6	37	c.1317G>T	CCDS14660.1	.	.	.	.	.	.	.	.	.	.	c	14.74	2.625696	0.46840	.	.	ENSG00000129675	ENST00000250617;ENST00000370620;ENST00000370622;ENST00000535736;ENST00000535227	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.36	5.36	0.76844	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.80850	-0.1198	10	0.87932	D	0	.	18.1967	0.89825	0.0:1.0:0.0:0.0	.	312;439	B7Z3C7;Q15052	.;ARHG6_HUMAN	C	439;285;285;285;312	ENSP00000250617:W439C;ENSP00000359654:W285C;ENSP00000359656:W285C;ENSP00000439483:W312C	ENSP00000250617:W439C	W	-	3	0	ARHGEF6	135595577	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	7.815000	0.86186	2.235000	0.73313	0.519000	0.50382	TGG		0.393	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058511.2	NM_004840		13	121	0	0	0	1	0	13	121				
DNAH1	25981	broad.mit.edu	37	3	52433173	52433173	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:52433173C>A	ENST00000420323.2	+	76	12658	c.12397C>A	c.(12397-12399)Cgc>Agc	p.R4133S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4198					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R4197S(1)|p.R4133S(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAATTTTGCCCGCAAATTTGT	0.537																																						uc011bef.2																			2	Substitution - Missense(2)	p.R4197S(1)|p.R4133S(1)	lung(2)	cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(12397-12399)Cgc>Agc		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							307.0	309.0	309.0					3																	52433173		1932	4123	6055	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52433173C>A	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12397C>A	3.37:g.52433173C>A	ENSP00000401514:p.Arg4133Ser		Somatic				DNAH1_uc003ddv.3_Missense_Mutation_p.R991S	p.R4133S	NM_015512	NP_056327	WXS	Illumina GAIIx	Phase_I	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	75	12658	+			4198					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.12397C>A	CCDS46842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.52|19.52	3.843842|3.843842	0.71488|0.71488	.|.	.|.	ENSG00000114841|ENSG00000114841	ENST00000273600|ENST00000420323	.|T	.|0.14640	.|2.49	4.5|4.5	3.55|3.55	0.40652|0.40652	.|.	.|0.000000	.|0.64402	.|D	.|0.000020	T|T	0.53981|0.53981	0.1830|0.1830	H|H	0.99507|0.99507	4.6|4.6	0.58432|0.58432	D|D	0.99999|0.99999	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.998	T|T	0.69727|0.69727	-0.5067|-0.5067	6|10	0.87932|0.87932	D|D	0|0	.|.	10.3034|10.3034	0.43665|0.43665	0.3864:0.6136:0.0:0.0|0.3864:0.6136:0.0:0.0	.|.	.|4133;4198	.|C9JXH6;Q9P2D7-2	.|.;.	Q|S	885|4133	.|ENSP00000401514:R4133S	ENSP00000273600:P885Q|ENSP00000401514:R4133S	P|R	+|+	2|1	0|0	DNAH1|DNAH1	52408213|52408213	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.420000|1.420000	0.34804|0.34804	2.506000|2.506000	0.84524|0.84524	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.537	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		5	444	0	0	0	1	0	5	444				
CCDC24	149473	broad.mit.edu	37	1	44457888	44457888	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr1:44457888C>T	ENST00000372318.3	+	3	302	c.131C>T	c.(130-132)gCg>gTg	p.A44V	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	44										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TTGCAGGTGGCGATGTTACGG	0.642																																						uc001clj.3																			0				endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9						c.(130-132)gCg>gTg		Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.							74.0	80.0	78.0					1																	44457888		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44457888C>T		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.131C>T	1.37:g.44457888C>T	ENSP00000361392:p.Ala44Val		Somatic				SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Intron	p.A44V	NM_152499	NP_689712	WXS	Illumina GAIIx	Phase_I	Q8N4L8	CCD24_HUMAN			2	302	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	44					Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.131C>T	CCDS507.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112732	0.37242	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.12	2.9	0.33743	.	0.669484	0.12224	N	0.488071	T	0.15522	0.0374	N	0.08118	0	0.24330	N	0.995007	B	0.17465	0.022	B	0.12156	0.007	T	0.18618	-1.0331	9	0.24483	T	0.36	-20.9488	2.5045	0.04641	0.3028:0.3782:0.0:0.319	.	44	Q8N4L8	CCD24_HUMAN	V	44	.	ENSP00000361392:A44V	A	+	2	0	CCDC24	44230475	0.334000	0.24739	0.581000	0.28614	0.937000	0.57800	0.082000	0.14847	1.003000	0.39130	0.313000	0.20887	GCG		0.642	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1	NM_152499		12	120	0	0	0	1	0	12	120				
SHQ1	55164	broad.mit.edu	37	3	72897455	72897455	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:72897455C>G	ENST00000325599.8	-	1	176	c.37G>C	c.(37-39)Gac>Cac	p.D13H	SHQ1_ENST00000463369.1_5'Flank	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	13	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GTCAGGAAGTCCGGATCCTGG	0.657																																						uc003dpf.3																			0		p.P12S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(37-39)Gac>Cac		Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.							73.0	74.0	74.0					3																	72897455		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72897455C>G	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.37G>C	3.37:g.72897455C>G	ENSP00000315182:p.Asp13His		Somatic				SHQ1_uc010hod.3_5'UTR	p.D13H	NM_018130	NP_060600	WXS	Illumina GAIIx	Phase_I	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	0	144	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	13			CS.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.37G>C	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.180711	0.78677	.	.	ENSG00000144736	ENST00000325599	T	0.34072	1.38	5.81	4.94	0.65067	CS-like domain (1);HSP20-like chaperone (1);	0.258918	0.44097	D	0.000497	T	0.53610	0.1807	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	P	0.55871	0.786	T	0.59337	-0.7473	10	0.62326	D	0.03	-12.4143	13.9276	0.63972	0.0:0.9257:0.0:0.0743	.	13	Q6PI26	SHQ1_HUMAN	H	13	ENSP00000315182:D13H	ENSP00000315182:D13H	D	-	1	0	SHQ1	72980145	0.999000	0.42202	0.881000	0.34555	0.096000	0.18686	4.348000	0.59379	1.470000	0.48102	0.655000	0.94253	GAC		0.657	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		3	120	0	0	0	1	0	3	120				
OR51F1	256892	broad.mit.edu	37	11	4790251	4790251	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:4790251T>A	ENST00000380383.1	-	1	917	c.918A>T	c.(916-918)aaA>aaT	p.K306N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.K299N			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGCGGATTTGTTTTGTTTTTA	0.438																																						uc010qyl.2																			0				kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(895-897)aaA>aaT		Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.							95.0	93.0	94.0					11																	4790251		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790251T>A	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.918A>T	11.37:g.4790251T>A	ENSP00000369744:p.Lys306Asn		Somatic					p.K299N	NM_001004752	NP_001004752	WXS	Illumina GAIIx	Phase_I	A6NLW9	A6NLW9_HUMAN		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)	0	897	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	299						Missense_Mutation	SNP	ENST00000380383.1	37	c.897A>T		.	.	.	.	.	.	.	.	.	.	T	10.25	1.299244	0.23650	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.45668	0.89;0.89	5.43	3.05	0.35203	.	0.114281	0.39475	N	0.001349	T	0.50411	0.1614	M	0.85630	2.765	0.28435	N	0.917072	D	0.56287	0.975	P	0.48368	0.575	T	0.54529	-0.8280	10	0.87932	D	0	.	7.45	0.27234	0.0:0.0911:0.1526:0.7562	.	306	A6NGY5	O51F1_HUMAN	N	299;306	ENSP00000345163:K299N;ENSP00000369744:K306N	ENSP00000345163:K299N	K	-	3	2	OR51F1	4746827	0.049000	0.20398	1.000000	0.80357	0.035000	0.12851	-0.072000	0.11486	1.071000	0.40834	0.533000	0.62120	AAA		0.438	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		37	50	0	0	0	1	0	37	50				
BRAF	673	broad.mit.edu	37	7	140481431	140481431	+	Silent	SNP	C	C	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:140481431C>G	ENST00000288602.6	-	11	1437	c.1377G>C	c.(1375-1377)gtG>gtC	p.V459V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)		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)	TTCTTTGTCCCACTGTAATCT	0.403		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		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)	0		p.V459L(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.(1375-1377)gtG>gtC		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						167.0	144.0	152.0					7																	140481431		2203	4300	6503	SO:0001819	synonymous_variant	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.chr7:140481431C>G	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.1377G>C	7.37:g.140481431C>G			Somatic					p.V459V	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			10	1438	-	Melanoma(164;0.00956)		459			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	c.1377G>C	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	9.387	1.074473	0.20227	.	.	ENSG00000157764	ENST00000496384	.	.	.	5.62	2.48	0.30137	.	.	.	.	.	T	0.67458	0.2895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65487	-0.6156	4	.	.	.	.	13.5723	0.61853	0.6435:0.3565:0.0:0.0	.	.	.	.	S	67	.	.	W	-	2	0	BRAF	140127900	0.971000	0.33674	1.000000	0.80357	0.998000	0.95712	0.209000	0.17435	0.678000	0.31325	0.585000	0.79938	TGG		0.403	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		3	122	0	0	0	1	0	3	122				
SBF2	81846	broad.mit.edu	37	11	9812167	9812167	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:9812167A>C	ENST00000256190.8	-	34	4771	c.4634T>G	c.(4633-4635)aTt>aGt	p.I1545S	SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1545	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CATTCTGTCAATACATTCCCA	0.294																																						uc001mib.2																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(4633-4635)aTt>aGt		Homo sapiens SET binding factor 2 (SBF2), mRNA.							82.0	100.0	94.0					11																	9812167		2201	4285	6486	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9812167A>C	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4634T>G	11.37:g.9812167A>C	ENSP00000256190:p.Ile1545Ser		Somatic				LOC283104_uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.I189S|SBF2_uc001mic.2_5'Flank|BC073899_uc001mie.3_Intron	p.I1545S	NM_030962	NP_112224	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	33	4772	-			1545			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.4634T>G	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.124350	0.56613	.	.	ENSG00000133812	ENST00000256190	D	0.91068	-2.78	6.17	6.17	0.99709	Myotubularin phosphatase domain (1);	0.041747	0.85682	D	0.000000	D	0.90219	0.6942	M	0.65975	2.015	0.80722	D	1	B	0.28439	0.212	B	0.28139	0.086	D	0.88496	0.3079	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1545	Q86WG5	MTMRD_HUMAN	S	1545	ENSP00000256190:I1545S	ENSP00000256190:I1545S	I	-	2	0	SBF2	9768743	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	ATT		0.294	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		3	155	0	0	0	1	0	3	155				
DICER1	23405	broad.mit.edu	37	14	95557639	95557639	+	Missense_Mutation	SNP	C	C	G			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr14:95557639C>G	ENST00000526495.1	-	27	5719	c.5428G>C	c.(5428-5430)Gat>Cat	p.D1810H	DICER1_ENST00000556045.1_Missense_Mutation_p.D708H|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810H|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810H|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000527414.1_Missense_Mutation_p.D1810H			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1810	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.		D -> H (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> N (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.|D -> Y (in non-epithelial ovarian tumor; somatic mutation). {ECO:0000269|PubMed:22187960}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCAAAAATATCCCCCATGGCC	0.458			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0		p.D1810A(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5428-5430)Gat>Cat		Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.							226.0	231.0	229.0					14																	95557639		2203	4300	6503	SO:0001583	missense	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557639C>G	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5428G>C	14.37:g.95557639C>G	ENSP00000437256:p.Asp1810His		Somatic				DICER1_uc010avh.1_Missense_Mutation_p.D708H|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.D1800H|DICER1_uc001ydx.2_Missense_Mutation_p.D1810H	p.D1810H	NM_030621	NP_803187	WXS	Illumina GAIIx	Phase_I	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	25	5640	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1810			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5428G>C	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931478	0.92389	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045	D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79	5.6	5.6	0.85130	Ribonuclease III (5);	0.050139	0.85682	D	0.000000	D	0.97854	0.9295	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99421	1.0933	10	0.87932	D	0	-24.389	19.6256	0.95677	0.0:1.0:0.0:0.0	.	708;1810	B3KRG4;Q9UPY3	.;DICER_HUMAN	H	1810;1810;1810;1810;708	ENSP00000343745:D1810H;ENSP00000437256:D1810H;ENSP00000376783:D1810H;ENSP00000435681:D1810H;ENSP00000451041:D708H	ENSP00000343745:D1810H	D	-	1	0	DICER1	94627392	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.316000	0.79007	2.605000	0.88082	0.655000	0.94253	GAT		0.458	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			92	167	0	0	0	1	0	92	167				
STAC2	342667	broad.mit.edu	37	17	37371255	37371255	+	Missense_Mutation	SNP	C	C	T	rs370925083		TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr17:37371255C>T	ENST00000333461.5	-	6	1090	c.721G>A	c.(721-723)Gag>Aag	p.E241K		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	241					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						TCCCCATCCTCGGTCAGCTCA	0.632																																						uc002hrs.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						c.(721-723)Gag>Aag		Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.			LYS/GLU	0,4406		0,0,2203	185.0	166.0	172.0		721	4.9	0.9	17		172	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAC2	NM_198993.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	241/412	37371255	1,13005	2203	4300	6503	SO:0001583	missense	342667				intracellular signal transduction		metal ion binding	g.chr17:37371255C>T	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.721G>A	17.37:g.37371255C>T	ENSP00000327509:p.Glu241Lys		Somatic				STAC2_uc010cvt.3_Missense_Mutation_p.E99K	p.E241K	NM_198993	NP_945344	WXS	Illumina GAIIx	Phase_I	Q6ZMT1	STAC2_HUMAN			5	1006	-			241					Q32MA3	Missense_Mutation	SNP	ENST00000333461.5	37	c.721G>A	CCDS11335.1	.	.	.	.	.	.	.	.	.	.	c	19.02	3.746675	0.69418	0.0	1.16E-4	ENSG00000141750	ENST00000333461	T	0.80909	-1.43	4.89	4.89	0.63831	.	0.236511	0.36374	N	0.002629	T	0.78349	0.4269	L	0.59436	1.845	0.33714	D	0.616181	B	0.14438	0.01	B	0.10450	0.005	T	0.81479	-0.0914	10	0.54805	T	0.06	-10.6034	15.901	0.79377	0.0:1.0:0.0:0.0	.	241	Q6ZMT1	STAC2_HUMAN	K	241	ENSP00000327509:E241K	ENSP00000327509:E241K	E	-	1	0	STAC2	34624781	0.994000	0.37717	0.946000	0.38457	0.985000	0.73830	4.225000	0.58600	2.429000	0.82318	0.506000	0.49869	GAG		0.632	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444533.2	NM_198993		87	154	0	0	0	1	0	87	154				
SLITRK3	22865	broad.mit.edu	37	3	164906194	164906194	+	Missense_Mutation	SNP	G	G	A	rs200230304	byFrequency	TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr3:164906194G>A	ENST00000475390.1	-	2	2868	c.2425C>T	c.(2425-2427)Cgg>Tgg	p.R809W	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R809W			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	809					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGCAAGGTCCGGTAGTTACTA	0.557										HNSCC(40;0.11)			G|||	2	0.000399361	0.0	0.0014	5008	,	,		18760	0.0		0.0	False		,,,				2504	0.001					uc003fej.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2425-2427)Cgg>Tgg		Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.							91.0	95.0	94.0					3																	164906194		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906194G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2425C>T	3.37:g.164906194G>A	ENSP00000420091:p.Arg809Trp	HNSCC(40;0.11)	Somatic				SLITRK3_uc003fek.3_Missense_Mutation_p.R809W|SLITRK3_uc021xgy.1_Missense_Mutation_p.R809W	p.R809W	NM_014926	NP_055741	WXS	Illumina GAIIx	Phase_I	O94933	SLIK3_HUMAN			1	2869	-			809					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2425C>T	CCDS3197.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.51	2.556862	0.45590	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.59083	0.29;0.29	5.65	3.85	0.44370	.	0.000000	0.34338	N	0.004049	T	0.58666	0.2138	N	0.24115	0.695	0.47994	D	0.999561	D	0.89917	1.0	D	0.75020	0.985	T	0.60571	-0.7237	10	0.87932	D	0	-13.7172	7.3709	0.26800	0.0762:0.0:0.5278:0.3961	.	809	O94933	SLIK3_HUMAN	W	809	ENSP00000420091:R809W;ENSP00000241274:R809W	ENSP00000241274:R809W	R	-	1	2	SLITRK3	166388888	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.961000	0.29267	0.923000	0.37045	0.655000	0.94253	CGG		0.557	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	117	0	0	0	1	0	4	117				
TECPR1	25851	broad.mit.edu	37	7	97858474	97858474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr7:97858474delA	ENST00000447648.2	-	16	2586	c.2287delT	c.(2287-2289)tggfs	p.W763fs	TECPR1_ENST00000542604.1_Frame_Shift_Del_p.W693fs|TECPR1_ENST00000479975.1_5'Flank|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.W764fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	763					autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCTGCCGCCAAAACCTGGAA	0.642																																						uc003upg.3																			0				central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2287-2289)tggfs		Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.							18.0	23.0	21.0					7																	97858474		1922	4094	6016	SO:0001589	frameshift_variant	25851					integral to membrane	protein binding	g.chr7:97858474delA		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.2287delT	7.37:g.97858474delA	ENSP00000404923:p.Trp763fs		Somatic				TECPR1_uc003uph.1_Frame_Shift_Del_p.W693fs	p.W763fs	NM_015395	NP_056210	WXS	Illumina GAIIx	Phase_I	Q7Z6L1	TCPR1_HUMAN			15	2492	-			763					A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Frame_Shift_Del	DEL	ENST00000447648.2	37	c.2287delT	CCDS47648.1																																																																																				0.642	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334661.1	NM_015395		2	4						2	4	---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103029464	103029464	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3GO-01A-11D-A202-08	TCGA-EL-A3GO-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bab12837-68d0-46ce-aa87-dd90e0c39b96	3a4370da-15f0-4613-86b2-1cb033d7dd6e	g.chr11:103029464delG	ENST00000375735.2	+	27	4330	c.4186delG	c.(4186-4188)ggafs	p.G1396fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.G1396fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1396	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)		TACTCATGCTGGAATAAGAAA	0.269																																						uc001phn.1																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(4186-4188)ggafs		Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.							15.0	15.0	15.0					11																	103029464		1776	4010	5786	SO:0001589	frameshift_variant	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.chr11:103029464delG	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.4186delG	11.37:g.103029464delG	ENSP00000364887:p.Gly1396fs		Somatic				DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Frame_Shift_Del_p.G1396fs	p.G1396fs	NM_001080463	NP_001073932	WXS	Illumina GAIIx	Phase_I	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	4330	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1396			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	ENST00000375735.2	37	c.4186delG	CCDS53701.1																																																																																				0.269	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		2	4						2	4	---	---	---	---
