#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KCNH3	23416	broad.mit.edu	37	12	49938149	49938149	+	Silent	SNP	C	C	T			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr12:49938149C>T	ENST00000257981.6	+	7	1433	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	391					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCAGCGAATCCGAGCTGCCTG	0.612																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1171-1173)tcC>tcT		potassium voltage-gated channel, subfamily H (eag-related), member 3							52.0	45.0	47.0					12																	49938149		2203	4300	6503	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49938149C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1173C>T	12.37:g.49938149C>T							p.S391S	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			7	1433	+			391					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.1173C>T	CCDS8786.1																																																																																				0.612	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		14	19	0	0	0	1	0	14	19				
MYH14	79784	broad.mit.edu	37	19	50720881	50720881	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr19:50720881G>A	ENST00000596571.1	+	2	415	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	MYH14_ENST00000601313.1_Missense_Mutation_p.G139S|MYH14_ENST00000598205.1_Missense_Mutation_p.G139S|MYH14_ENST00000440075.2_Missense_Mutation_p.G139S|MYH14_ENST00000376970.2_Missense_Mutation_p.G139S|MYH14_ENST00000262269.8_Missense_Mutation_p.G139S|MYH14_ENST00000425460.1_Missense_Mutation_p.G139S			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	139	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GACGTACTCCGGCCTTTTCTG	0.602																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(415-417)Ggc>Agc		myosin, heavy chain 14, non-muscle							115.0	126.0	122.0					19																	50720881		2200	4296	6496	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50720881G>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.415G>A	19.37:g.50720881G>A	ENSP00000472819:p.Gly139Ser					MYH14_ENST00000262269.8_Missense_Mutation_p.G139S|MYH14_ENST00000596571.1_Missense_Mutation_p.G139S|MYH14_ENST00000601313.1_Missense_Mutation_p.G139S|MYH14_ENST00000425460.1_Missense_Mutation_p.G139S|MYH14_ENST00000598205.1_Missense_Mutation_p.G139S|MYH14_ENST00000376970.2_Missense_Mutation_p.G139S	p.G139S			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	3	462	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	139			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.415G>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734538	0.69189	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	4.36	4.36	0.52297	Myosin head, motor domain (3);	.	.	.	.	D	0.97120	0.9059	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.98016	1.0368	9	0.87932	D	0	.	14.7762	0.69734	0.0:0.0:1.0:0.0	.	139;139;139	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	S	139	ENSP00000406273:G139S;ENSP00000366169:G139S;ENSP00000407879:G139S;ENSP00000262269:G139S	ENSP00000262269:G139S	G	+	1	0	MYH14	55412693	1.000000	0.71417	0.978000	0.43139	0.166000	0.22503	9.596000	0.98267	2.439000	0.82584	0.655000	0.94253	GGC		0.602	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		28	50	0	0	0	1	0	28	50				
ZC3H7B	23264	broad.mit.edu	37	22	41735127	41735127	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr22:41735127G>A	ENST00000352645.4	+	9	1005	c.748G>A	c.(748-750)Gac>Aac	p.D250N	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D250N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	266					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CCCCAGCACCGACAGCCTGGA	0.662																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(748-750)Gac>Aac		zinc finger CCCH-type containing 7B							98.0	84.0	88.0					22																	41735127		2203	4300	6503	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41735127G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.748G>A	22.37:g.41735127G>A	ENSP00000345793:p.Asp250Asn					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.D250N	p.D250N	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			9	1005	+			266					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.748G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048891	0.36181	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.11604	2.76;2.76	4.98	4.98	0.66077	.	0.185402	0.45867	D	0.000323	T	0.07143	0.0181	N	0.14661	0.345	0.31091	N	0.71081	B	0.28933	0.228	B	0.20184	0.028	T	0.09975	-1.0650	10	0.15066	T	0.55	-25.9826	18.2407	0.89967	0.0:0.0:1.0:0.0	.	250	Q9UGR2-2	.	N	250	ENSP00000345793:D250N;ENSP00000263243:D250N	ENSP00000263243:D250N	D	+	1	0	ZC3H7B	40065073	1.000000	0.71417	0.852000	0.33557	0.604000	0.37047	6.674000	0.74487	2.286000	0.76751	0.561000	0.74099	GAC		0.662	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		25	40	0	0	0	1	0	25	40				
SLC52A1	55065	broad.mit.edu	37	17	4937900	4937900	+	Start_Codon_SNP	SNP	A	A	G			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr17:4937900A>G	ENST00000424747.1	-	2	714	c.2T>C	c.(1-3)aTg>aCg	p.M1T	SLC52A1_ENST00000254853.5_Start_Codon_SNP_p.M1T|SLC52A1_ENST00000512825.2_Start_Codon_SNP_p.M1T	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	1					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)										GGGTGCTGCCATTCAGCCCAA	0.597																																						ENST00000512825.2																			0											c.(1-3)aTg>aCg		solute carrier family 52 (riboflavin transporter), member 1							44.0	45.0	45.0					17																	4937900		2203	4300	6503	SO:0001582	initiator_codon_variant	55065					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr17:4937900A>G	AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.2T>C	17.37:g.4937900A>G	ENSP00000399979:p.Met1Thr					SLC52A1_ENST00000254853.5_Start_Codon_SNP_p.M1T|SLC52A1_ENST00000424747.1_Start_Codon_SNP_p.M1T	p.M1T			Q9NWF4	RFT_HUMAN			2	1413	-			1					B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Translation_Start_Site	SNP	ENST00000424747.1	37	c.2T>C	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360859	0.41801	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.75154	-0.91;-0.73;-0.91	2.21	1.09	0.20402	.	0.122013	0.50627	D	0.000111	T	0.81422	0.4819	.	.	.	0.80722	D	1	D;D	0.58970	0.984;0.973	D;P	0.66716	0.946;0.885	T	0.78593	-0.2144	9	0.87932	D	0	.	5.576	0.17222	0.8422:0.0:0.1578:0.0	.	1;1	F5H5Y1;Q9NWF4	.;RFT_HUMAN	T	1	ENSP00000254853:M1T;ENSP00000443026:M1T;ENSP00000399979:M1T	ENSP00000254853:M1T	M	-	2	0	GPR172B	4878624	0.986000	0.35501	0.576000	0.28549	0.881000	0.50899	1.079000	0.30766	0.279000	0.22186	0.528000	0.53228	ATG		0.597	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1	NM_017986	Missense_Mutation	14	16	0	0	0	1	0	14	16				
PIK3CB	5291	broad.mit.edu	37	3	138382751	138382751	+	Silent	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr3:138382751G>A	ENST00000477593.1	-	20	2866	c.2793C>T	c.(2791-2793)ggC>ggT	p.G931G	PIK3CB_ENST00000544716.1_Silent_p.G382G|PIK3CB_ENST00000289153.2_Silent_p.G931G			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	931	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AGCTCACCTGGCCAGTTTTTT	0.433																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(2791-2793)ggC>ggT		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							108.0	102.0	104.0					3																	138382751		2203	4300	6503	SO:0001819	synonymous_variant	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138382751G>A		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2793C>T	3.37:g.138382751G>A						PIK3CB_ENST00000544716.1_Silent_p.G382G|PIK3CB_ENST00000289153.2_Silent_p.G931G	p.G931G			P42338	PK3CB_HUMAN			20	2866	-			931			PI3K/PI4K.		D3DNF0|Q24JU2	Silent	SNP	ENST00000477593.1	37	c.2793C>T	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145193	0.21288	.	.	ENSG00000051382	ENST00000493568	.	.	.	5.78	1.7	0.24286	.	.	.	.	.	T	0.43545	0.1252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24728	-1.0152	4	.	.	.	-16.0574	2.298	0.04155	0.2431:0.3259:0.3187:0.1123	.	.	.	.	V	563	.	.	A	-	2	0	PIK3CB	139865441	0.073000	0.21202	1.000000	0.80357	0.985000	0.73830	-0.599000	0.05700	0.430000	0.26230	0.655000	0.94253	GCC		0.433	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			3	22	0	0	0	1	0	3	22				
PRKACA	5566	broad.mit.edu	37	19	14208594	14208594	+	Silent	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr19:14208594G>A	ENST00000308677.4	-	6	724	c.528C>T	c.(526-528)gaC>gaT	p.D176D	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.D168D	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						AGCCCTGCTGGTCAATGAGCA	0.612																																						ENST00000308677.4																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						c.(526-528)gaC>gaT		protein kinase, cAMP-dependent, catalytic, alpha							73.0	71.0	72.0					19																	14208594		2203	4300	6503	SO:0001819	synonymous_variant	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14208594G>A		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.528C>T	19.37:g.14208594G>A						PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.D168D|PRKACA_ENST00000350356.3_5'UTR	p.D176D	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN			6	724	-			176			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Silent	SNP	ENST00000308677.4	37	c.528C>T	CCDS12304.1																																																																																				0.612	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		19	31	0	0	0	1	0	19	31				
IPO8	10526	broad.mit.edu	37	12	30818753	30818753	+	Silent	SNP	A	A	G			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr12:30818753A>G	ENST00000256079.4	-	12	1586	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C	IPO8_ENST00000544829.1_Silent_p.C211C	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	416					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGATTTGATAACAGAATGCCA	0.378																																						ENST00000256079.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1246-1248)tgT>tgC		importin 8							93.0	94.0	94.0					12																	30818753		2203	4300	6503	SO:0001819	synonymous_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30818753A>G	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1248T>C	12.37:g.30818753A>G						IPO8_ENST00000544829.1_Silent_p.C211C	p.C416C	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			12	1586	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		416					B7Z7M3	Silent	SNP	ENST00000256079.4	37	c.1248T>C	CCDS8719.1																																																																																				0.378	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		17	26	0	0	0	1	0	17	26				
TAF1	6872	broad.mit.edu	37	X	70603867	70603867	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chrX:70603867C>T	ENST00000373790.4	+	13	2051	c.2000C>T	c.(1999-2001)aCa>aTa	p.T667I	TAF1_ENST00000276072.3_Missense_Mutation_p.T688I|TAF1_ENST00000449580.1_Missense_Mutation_p.T667I|TAF1_ENST00000423759.1_Missense_Mutation_p.T688I	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	667	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTATGCGCACACCTCAGGAC	0.448																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(1999-2001)aCa>aTa		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							221.0	178.0	192.0					X																	70603867		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70603867C>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2000C>T	X.37:g.70603867C>T	ENSP00000362895:p.Thr667Ile					TAF1_ENST00000423759.1_Missense_Mutation_p.T688I|TAF1_ENST00000276072.3_Missense_Mutation_p.T688I|TAF1_ENST00000373790.4_Missense_Mutation_p.T667I	p.T667I			P21675	TAF1_HUMAN			13	2051	+	Renal(35;0.156)	all_lung(315;0.000321)	667					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2000C>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	26.8	4.774156	0.90108	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.83312	2.635	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.75484	0.986;0.953	T	0.51942	-0.8641	10	0.72032	D	0.01	.	19.1532	0.93499	0.0:1.0:0.0:0.0	.	667;688	P21675;P21675-2	TAF1_HUMAN;.	I	667;667;688;688	ENSP00000362895:T667I;ENSP00000389000:T667I;ENSP00000406549:T688I;ENSP00000276072:T688I	ENSP00000276072:T688I	T	+	2	0	TAF1	70520592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.299000	0.78831	2.474000	0.83562	0.600000	0.82982	ACA		0.448	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		26	35	0	0	0	1	0	26	35				
COL4A5	1287	broad.mit.edu	37	X	107936078	107936078	+	Silent	SNP	C	C	T			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chrX:107936078C>T	ENST00000361603.2	+	48	4855	c.4611C>T	c.(4609-4611)taC>taT	p.Y1537Y	COL4A5_ENST00000328300.6_Silent_p.Y1543Y	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1537	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACTATTCTTACTGGCTCTCTA	0.478									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4627-4629)taC>taT		collagen, type IV, alpha 5							117.0	96.0	103.0					X																	107936078		2203	4300	6503	SO:0001819	synonymous_variant	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107936078C>T	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4611C>T	X.37:g.107936078C>T						COL4A5_ENST00000361603.2_Silent_p.Y1537Y	p.Y1543Y	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			50	4873	+			1537			Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	ENST00000361603.2	37	c.4629C>T	CCDS14543.1																																																																																				0.478	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			29	43	0	0	0	1	0	29	43				
BAZ2A	11176	broad.mit.edu	37	12	57009121	57009121	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr12:57009121T>C	ENST00000551812.1	-	3	606	c.413A>G	c.(412-414)cAt>cGt	p.H138R	BAZ2A_ENST00000179765.5_Missense_Mutation_p.H136R|BAZ2A_ENST00000549884.1_Missense_Mutation_p.H136R|BAZ2A_ENST00000379441.3_Missense_Mutation_p.H138R	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	138					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTTAGTGTTATGACTTGGGGA	0.547																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(406-408)cAt>cGt		bromodomain adjacent to zinc finger domain, 2A							78.0	78.0	78.0					12																	57009121		1920	4126	6046	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57009121T>C	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.413A>G	12.37:g.57009121T>C	ENSP00000446880:p.His138Arg					BAZ2A_ENST00000379441.3_Missense_Mutation_p.H138R|BAZ2A_ENST00000551812.1_Missense_Mutation_p.H138R|BAZ2A_ENST00000549884.1_Missense_Mutation_p.H136R	p.H136R			Q9UIF9	BAZ2A_HUMAN			3	606	-			138					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.407A>G	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861259	0.51482	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	4.75	4.75	0.60458	.	0.219149	0.38663	N	0.001619	T	0.11665	0.0284	N	0.14661	0.345	0.30897	N	0.729663	B;B;B	0.28636	0.103;0.218;0.139	B;B;B	0.31101	0.039;0.124;0.058	T	0.07385	-1.0775	10	0.59425	D	0.04	.	12.1768	0.54190	0.0:0.0:0.0:1.0	.	138;136;138	B7Z8F7;F8VU39;Q9UIF9	.;.;BAZ2A_HUMAN	R	138;136;138;136	ENSP00000368754:H138R;ENSP00000179765:H136R;ENSP00000446880:H138R;ENSP00000447941:H136R	ENSP00000179765:H136R	H	-	2	0	BAZ2A	55295388	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.037000	0.49775	2.126000	0.65437	0.533000	0.62120	CAT		0.547	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		5	41	0	0	0	1	0	5	41				
AHNAK2	113146	broad.mit.edu	37	14	105417094	105417094	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr14:105417094G>T	ENST00000333244.5	-	7	4813	c.4694C>A	c.(4693-4695)cCt>cAt	p.P1565H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1565						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTCGGACACAGGGCCCTCTGG	0.607																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(4693-4695)cCt>cAt		AHNAK nucleoprotein 2							99.0	102.0	101.0					14																	105417094		1874	4057	5931	SO:0001583	missense	113146					nucleus		g.chr14:105417094G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4694C>A	14.37:g.105417094G>T	ENSP00000353114:p.Pro1565His					AHNAK2_ENST00000557457.1_Intron	p.P1565H	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4813	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1565					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4694C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	1.710	-0.499229	0.04291	.	.	ENSG00000185567	ENST00000333244	T	0.00724	5.78	3.66	-7.33	0.01431	.	.	.	.	.	T	0.00210	0.0006	N	0.00063	-2.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49995	-0.8879	9	0.38643	T	0.18	.	0.8871	0.01246	0.2124:0.2311:0.3212:0.2353	.	1565	Q8IVF2	AHNK2_HUMAN	H	1565	ENSP00000353114:P1565H	ENSP00000353114:P1565H	P	-	2	0	AHNAK2	104488139	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.290000	0.08354	-1.672000	0.01464	-2.718000	0.00132	CCT		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	145	1	0	0.150653	1	0.150653	4	145				
RFX3	5991	broad.mit.edu	37	9	3263080	3263080	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr9:3263080G>A	ENST00000382004.3	-	14	1771	c.1460C>T	c.(1459-1461)gCc>gTc	p.A487V	RFX3_ENST00000302303.1_Missense_Mutation_p.A487V|RFX3_ENST00000358730.2_Missense_Mutation_p.A487V	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	487					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ACTTACAGCGGCAACCTGTAA	0.448																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1459-1461)gCc>gTc		regulatory factor X, 3 (influences HLA class II expression)							119.0	103.0	108.0					9																	3263080		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3263080G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1460C>T	9.37:g.3263080G>A	ENSP00000371434:p.Ala487Val					RFX3_ENST00000302303.1_Missense_Mutation_p.A487V|RFX3_ENST00000358730.2_Missense_Mutation_p.A487V	p.A487V	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	14	1771	-			487					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.1460C>T	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091911	0.76756	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303;ENST00000458034	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	6.16	6.16	0.99307	.	0.104953	0.64402	D	0.000003	T	0.40015	0.1100	N	0.20685	0.6	0.80722	D	1	B;P	0.36789	0.014;0.57	B;B	0.43225	0.022;0.412	T	0.08006	-1.0743	10	0.33940	T	0.23	-13.7307	20.8598	0.99761	0.0:0.0:1.0:0.0	.	487;487	P48380-2;P48380	.;RFX3_HUMAN	V	487;487;487;60	ENSP00000371434:A487V;ENSP00000351574:A487V;ENSP00000303847:A487V;ENSP00000400026:A60V	ENSP00000303847:A487V	A	-	2	0	RFX3	3253080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.017000	0.88712	2.937000	0.99478	0.650000	0.86243	GCC		0.448	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		3	40	0	0	0	1	0	3	40				
PLCD4	84812	broad.mit.edu	37	2	219483500	219483500	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr2:219483500delC	ENST00000450993.2	+	4	719	c.380delC	c.(379-381)accfs	p.T127fs	U3_ENST00000516996.1_RNA|PLCD4_ENST00000417849.1_Frame_Shift_Del_p.T127fs|PLCD4_ENST00000432688.1_Frame_Shift_Del_p.T127fs	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	127					acrosome reaction (GO:0007340)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GATCTTGTCACCAGCATGGAC	0.602																																						ENST00000450993.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23						c.(379-381)acfs		phospholipase C, delta 4							25.0	26.0	26.0					2																	219483500		2066	4201	6267	SO:0001589	frameshift_variant	84812				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:219483500delC	AI366170	CCDS46516.1	2q35	2013-01-10			ENSG00000115556	ENSG00000115556	3.1.4.11	"""EF-hand domain containing"""	9062	protein-coding gene	gene with protein product		605939				10702683, 9056492	Standard	NM_032726		Approved		uc021vwx.1	Q9BRC7	OTTHUMG00000154743	ENST00000450993.2:c.380delC	2.37:g.219483500delC	ENSP00000388631:p.Thr127fs					PLCD4_ENST00000417849.1_Frame_Shift_Del_p.T127fs|PLCD4_ENST00000432688.1_Frame_Shift_Del_p.T127fs	p.T127fs	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	4	719	+		Renal(207;0.0915)	127					Q53FS8	Frame_Shift_Del	DEL	ENST00000450993.2	37	c.380delC	CCDS46516.1																																																																																				0.602	PLCD4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336876.1			2	4						2	4	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573825	22573826	+	RNA	INS	-	-	A	rs33991650|rs11408894|rs535957758	byFrequency	TCGA-QR-A70D-01A-11D-A35D-08	TCGA-QR-A70D-10B-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff003cbc-050a-4017-9004-2e05b1f5c6e0	01a5d489-f653-4bd8-ad68-d244e1bae50a	g.chr14:22573825_22573826insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		GACTCTTTTTTAAAAAAACAGG	0.45														60	0.0119808	0.0106	0.0072	5008	,	,		19441	0.0149		0.0219	False		,,,				2504	0.0041					ENST00000390453.1																			0																																																			28659							g.chr14:22573825_22573826insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573832_22573832dupA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		2	4						2	4	---	---	---	---
