#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
KCNH5	27133	broad.mit.edu	37	14	63511901	63511901	+	Missense_Mutation	SNP	G	G	A			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr14:63511901G>A	ENST00000322893.7	-	1	272	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000394968.1_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	2					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGCCCCCCGGCATCCTGGGT	0.602																																						ENST00000322893.7																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(4-6)Ccg>Tcg		potassium voltage-gated channel, subfamily H (eag-related), member 5							53.0	47.0	49.0					14																	63511901		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63511901G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.4C>T	14.37:g.63511901G>A	ENSP00000321427:p.Pro2Ser					KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S|KCNH5_ENST00000394968.1_Intron	p.P2S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	1	272	-			2					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.4C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743568	0.69418	.	.	ENSG00000140015	ENST00000322893;ENST00000420622	D;D	0.98876	-5.2;-5.06	5.23	5.23	0.72850	.	0.052087	0.85682	D	0.000000	D	0.98248	0.9420	M	0.72118	2.19	0.80722	D	1	P;P	0.37548	0.538;0.599	P;B	0.44359	0.447;0.103	D	0.99806	1.1038	10	0.87932	D	0	.	16.6453	0.85175	0.0:0.0:1.0:0.0	.	2;2	Q8NCM2-2;Q8NCM2	.;KCNH5_HUMAN	S	2	ENSP00000321427:P2S;ENSP00000395439:P2S	ENSP00000321427:P2S	P	-	1	0	KCNH5	62581654	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.118000	0.89577	2.611000	0.88343	0.563000	0.77884	CCG		0.602	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		3	42	0	0	0	1	0	3	42				
IQSEC3	440073	broad.mit.edu	37	12	247904	247904	+	Missense_Mutation	SNP	G	G	A			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr12:247904G>A	ENST00000538872.1	+	4	1493	c.1375G>A	c.(1375-1377)Gcg>Acg	p.A459T	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A156T|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A459T|RP11-598F7.4_ENST00000508953.2_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	459					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		gccggagagcgcgggccccgg	0.776																																						ENST00000538872.1																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1375-1377)Gcg>Acg		IQ motif and Sec7 domain 3							5.0	6.0	5.0					12																	247904		1812	3653	5465	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:247904G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.1375G>A	12.37:g.247904G>A	ENSP00000437554:p.Ala459Thr					IQSEC3_ENST00000382841.2_Missense_Mutation_p.A156T|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A459T	p.A459T			Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	4	1493	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		459					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.1375G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	3.136	-0.177290	0.06380	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.09911	2.93;2.93;2.94	4.56	2.51	0.30379	.	1.468830	0.03678	N	0.245073	T	0.11110	0.0271	L	0.47716	1.5	0.09310	N	1	B;B	0.24675	0.024;0.109	B;B	0.11329	0.003;0.006	T	0.28618	-1.0038	10	0.19590	T	0.45	.	7.7088	0.28665	0.0986:0.1666:0.7348:0.0	.	459;156	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	T	459;459;156	ENSP00000437554:A459T;ENSP00000315662:A459T;ENSP00000372292:A156T	ENSP00000315662:A459T	A	+	1	0	IQSEC3	118165	0.000000	0.05858	0.005000	0.12908	0.025000	0.11179	0.328000	0.19681	2.080000	0.62538	0.561000	0.74099	GCG		0.776	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3	XM_495902		3	5	0	0	0	1	0	3	5				
IL2RB	3560	broad.mit.edu	37	22	37538550	37538550	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr22:37538550C>T	ENST00000216223.5	-	4	404	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	69					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TTGGTTCCACCGCCTTTCATG	0.577																																						ENST00000216223.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23						c.(205-207)cGg>cAg		interleukin 2 receptor, beta	Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)						85.0	81.0	83.0					22																	37538550		2203	4300	6503	SO:0001583	missense	3560				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity	g.chr22:37538550C>T	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.206G>A	22.37:g.37538550C>T	ENSP00000216223:p.Arg69Gln						p.R69Q	NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN			4	404	-			69					B2R765	Missense_Mutation	SNP	ENST00000216223.5	37	c.206G>A	CCDS13942.1	.	.	.	.	.	.	.	.	.	.	c	6.394	0.440885	0.12104	.	.	ENSG00000100385	ENST00000216223;ENST00000453962;ENST00000429622;ENST00000445595	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	4.86	-4.43	0.03568	Fibronectin, type III (1);	26.198000	0.00166	N	0.000007	D	0.89413	0.6708	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	D	0.85038	0.0921	10	0.11794	T	0.64	.	8.1845	0.31330	0.0:0.2531:0.2358:0.5111	.	69	P14784	IL2RB_HUMAN	Q	69	ENSP00000216223:R69Q;ENSP00000403731:R69Q;ENSP00000402685:R69Q;ENSP00000401020:R69Q	ENSP00000216223:R69Q	R	-	2	0	IL2RB	35868496	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.231000	0.02939	-1.076000	0.03125	-0.319000	0.08680	CGG		0.577	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1			6	54	0	0	0	1	0	6	54				
VNN2	8875	broad.mit.edu	37	6	133073759	133073759	+	Missense_Mutation	SNP	G	G	T			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr6:133073759G>T	ENST00000326499.6	-	4	791	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	VNN2_ENST00000525289.1_Intron|VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525270.1_Missense_Mutation_p.L170M|RP1-55C23.7_ENST00000430895.1_RNA	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	223	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		TCTTTCACCAGGGTAACACCA	0.443																																						ENST00000326499.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(667-669)Ctg>Atg		vanin 2							152.0	135.0	141.0					6																	133073759		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133073759G>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.667C>A	6.37:g.133073759G>T	ENSP00000322276:p.Leu223Met					VNN2_ENST00000525270.1_Missense_Mutation_p.L170M|VNN2_ENST00000525289.1_Intron	p.L223M	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	4	791	-			223			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.667C>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428241	0.43122	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.88509	-2.39;-2.39	5.41	3.38	0.38709	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.49916	D	0.000130	D	0.90988	0.7166	M	0.88105	2.93	0.58432	D	0.999995	D	0.57899	0.981	P	0.58577	0.841	D	0.91105	0.4917	10	0.72032	D	0.01	-8.7611	6.3535	0.21389	0.0874:0.1629:0.6325:0.1172	.	223	O95498	VNN2_HUMAN	M	223;170	ENSP00000322276:L223M;ENSP00000436822:L170M	ENSP00000322276:L223M	L	-	1	2	VNN2	133115452	0.024000	0.19004	0.870000	0.34147	0.488000	0.33401	0.043000	0.13971	1.333000	0.45449	0.609000	0.83330	CTG		0.443	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			4	69	1	0	0.00909568	1	0.00970206	4	69				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			197331							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	167	0	0	0	1	0	4	167				
IGKV3-20	28912	broad.mit.edu	37	2	89442552	89442552	+	RNA	SNP	A	A	G			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr2:89442552A>G	ENST00000492167.1	-	0	91									immunoglobulin kappa variable 3-20																		CCTGGGAGCCAGAGTAGCAGG	0.507																																						ENST00000492167.1																			0																				104.0	101.0	102.0					2																	89442552		1829	4067	5896			28912							g.chr2:89442552A>G	X12686		2p11.2	2012-02-08			ENSG00000239951	ENSG00000239951		"""Immunoglobulins / IGK locus"""	5817	other	immunoglobulin gene							Standard	NG_000834		Approved				OTTHUMG00000151639		2.37:g.89442552A>G														0	91	-									RNA	SNP	ENST00000492167.1	37																																																																																						0.507	IGKV3-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323388.1	NG_000834		40	41	0	0	0	1	0	40	41				
LINC01420	550643	broad.mit.edu	37	X	56763812	56763812	+	RNA	SNP	A	A	G	rs188569110		TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chrX:56763812A>G	ENST00000374922.4	+	0	468					NR_015367.2																						GTCAGGTCCAATGCACTCTTA	0.393																																						ENST00000374922.4																			0																																																			550643							g.chrX:56763812A>G																													X.37:g.56763812A>G								NR_015367.2						0	468	+									RNA	SNP	ENST00000374922.4	37																																																																																						0.393	RP11-622K12.1-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000056902.1			22	19	0	0	0	1	0	22	19				
SYT6	148281	broad.mit.edu	37	1	114680328	114680328	+	Missense_Mutation	SNP	C	C	T	rs373704316		TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr1:114680328C>T	ENST00000610222.1	-	3	1006	c.860G>A	c.(859-861)cGc>cAc	p.R287H	SYT6_ENST00000393296.1_Missense_Mutation_p.R287H|SYT6_ENST00000369547.1_Missense_Mutation_p.R202H|SYT6_ENST00000607941.1_Missense_Mutation_p.R202H|SYT6_ENST00000609117.1_Missense_Mutation_p.R202H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	287	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGGGTCTTGCGGTGCACCCG	0.547																																						ENST00000393296.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(859-861)cGc>cAc		synaptotagmin VI		C	HIS/ARG	0,4406		0,0,2203	128.0	121.0	123.0		605	5.5	1.0	1		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYT6	NM_205848.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	202/426	114680328	1,13005	2203	4300	6503	SO:0001583	missense	148281				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	g.chr1:114680328C>T		CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.860G>A	1.37:g.114680328C>T	ENSP00000476396:p.Arg287His					SYT6_ENST00000369547.1_Missense_Mutation_p.R202H	p.R287H			Q5T7P8	SYT6_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	937	-	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)	287			C2 1.		B1AMB8|B3KPK1	Missense_Mutation	SNP	ENST00000610222.1	37	c.860G>A		.	.	.	.	.	.	.	.	.	.	C	34	5.311632	0.95655	0.0	1.16E-4	ENSG00000134207	ENST00000369547;ENST00000393296;ENST00000369546;ENST00000369545	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.46	5.46	0.80206	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.76471	0.3992	L	0.39467	1.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.78942	-0.2005	10	0.87932	D	0	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	287	Q5T7P8	SYT6_HUMAN	H	202;287;202;287	ENSP00000358560:R202H;ENSP00000376974:R287H;ENSP00000358559:R202H;ENSP00000358558:R287H	ENSP00000358558:R287H	R	-	2	0	SYT6	114481851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.571000	0.86741	0.655000	0.94253	CGC		0.547	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848		5	26	0	0	0	1	0	5	26				
ANKRD30B	374860	broad.mit.edu	37	18	14852025	14852025	+	Missense_Mutation	SNP	G	G	T			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr18:14852025G>T	ENST00000358984.4	+	36	3905	c.3725G>T	c.(3724-3726)aGc>aTc	p.S1242I		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1242										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAATCCAAAAGCCCAAAAATT	0.363																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3724-3726)aGc>aTc		ankyrin repeat domain 30B							9.0	9.0	9.0					18																	14852025		690	1580	2270	SO:0001583	missense	374860							g.chr18:14852025G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3725G>T	18.37:g.14852025G>T	ENSP00000351875:p.Ser1242Ile						p.S1242I	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			36	3905	+			1327					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.3725G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	G	7.110	0.575865	0.13623	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.17054	2.3	1.39	-1.8	0.07907	.	.	.	.	.	T	0.19167	0.0460	M	0.71206	2.165	0.80722	D	1	P;D	0.62365	0.914;0.991	B;P	0.47102	0.198;0.537	T	0.18935	-1.0321	9	0.62326	D	0.03	.	3.6651	0.08253	0.2381:0.2329:0.529:0.0	.	1327;1242	Q9BXX2;F8WAG3	AN30B_HUMAN;.	I	1242;636;662	ENSP00000351875:S1242I	ENSP00000277669:S662I	S	+	2	0	ANKRD30B	14842025	0.020000	0.18652	0.207000	0.23584	0.132000	0.20833	0.093000	0.15086	-0.515000	0.06479	0.173000	0.16961	AGC		0.363	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		7	6	1	0	0.27861	1	0.27861	7	6				
IL34	146433	broad.mit.edu	37	16	70688489	70688489	+	Missense_Mutation	SNP	T	T	C			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr16:70688489T>C	ENST00000288098.2	+	2	460	c.77T>C	c.(76-78)aTg>aCg	p.M26T	IL34_ENST00000429149.2_Missense_Mutation_p.M26T|IL34_ENST00000569641.1_Intron|IL34_ENST00000566361.1_Start_Codon_SNP_p.M1T	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	26					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						CCTTTGGAGATGTGGCCCTTG	0.567											OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000429149.2																			0				breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(76-78)aTg>aCg		interleukin 34							361.0	247.0	285.0					16																	70688489		2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70688489T>C	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.77T>C	16.37:g.70688489T>C	ENSP00000288098:p.Met26Thr		OREG0023916	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	IL34_ENST00000288098.2_Missense_Mutation_p.M26T|IL34_ENST00000566361.1_Start_Codon_SNP_p.M1T|IL34_ENST00000569641.1_Intron	p.M26T	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			3	632	+			26					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.77T>C	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	T	5.554	0.287079	0.10513	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.40756	1.02;1.02	4.13	1.61	0.23674	.	1.290590	0.05627	N	0.580966	T	0.33847	0.0877	L	0.51422	1.61	0.19300	N	0.999975	B;B	0.13145	0.007;0.007	B;B	0.09377	0.004;0.004	T	0.24119	-1.0169	10	0.30078	T	0.28	-2.2395	2.5238	0.04686	0.2008:0.2217:0.0:0.5775	.	26;26	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	T	26	ENSP00000397863:M26T;ENSP00000288098:M26T	ENSP00000288098:M26T	M	+	2	0	IL34	69245990	0.998000	0.40836	0.996000	0.52242	0.020000	0.10135	0.691000	0.25467	0.715000	0.32103	0.374000	0.22700	ATG		0.567	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		26	30	0	0	0	1	0	26	30				
TAF1L	138474	broad.mit.edu	37	9	32633094	32633094	+	Silent	SNP	A	A	T			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr9:32633094A>T	ENST00000242310.4	-	1	2573	c.2484T>A	c.(2482-2484)gtT>gtA	p.V828V	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	828					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTAAATAAAAACCTGTAGAA	0.438																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(2482-2484)gtT>gtA		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							115.0	119.0	118.0					9																	32633094		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633094A>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2484T>A	9.37:g.32633094A>T							p.V828V	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2573	-			828					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.2484T>A	CCDS35003.1																																																																																				0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			47	57	0	0	0	1	0	47	57				
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065|rs367921715|rs572995536	byFrequency	TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr1:154842200_154842202delGCT	ENST00000271915.4	-	1	554_556	c.239_241delAGC	c.(238-243)cagcca>cca	p.Q80del	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GGATGCGGTGgctgctgctgctg	0.7																																						ENST00000271915.3																			2	Insertion - In frame(2)	p.Q80_P81insQQ(2)	prostate(2)	cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(238-243)cca>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154842200_154842202delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.239_241delAGC	1.37:g.154842209_154842211delGCT	ENSP00000271915:p.Gln80del						p.QP80del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		1	554_556	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		80			Poly-Gln.		B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.239_241delAGC	CCDS30880.1																																																																																				0.700	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	3						3	3	---	---	---	---
PDE2A	5138	broad.mit.edu	37	11	72292484	72292484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr11:72292484delG	ENST00000334456.5	-	23	2207	c.1962delC	c.(1960-1962)cccfs	p.P654fs	PDE2A_ENST00000444035.2_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000376450.3_Frame_Shift_Del_p.P398fs|PDE2A_ENST00000418754.2_Frame_Shift_Del_p.P539fs|PDE2A_ENST00000540345.1_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000544570.1_Frame_Shift_Del_p.P647fs	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	654	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	AGTTGTGGTAGGGGGGATCCC	0.582																																						ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1960-1962)ccfs		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						51.0	50.0	50.0					11																	72292484		2200	4293	6493	SO:0001589	frameshift_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72292484delG	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1962delC	11.37:g.72292484delG	ENSP00000334910:p.Pro654fs					PDE2A_ENST00000444035.2_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000418754.2_Frame_Shift_Del_p.P539fs|PDE2A_ENST00000376450.3_Frame_Shift_Del_p.P398fs|PDE2A_ENST00000540345.1_Frame_Shift_Del_p.P645fs|PDE2A_ENST00000544570.1_Frame_Shift_Del_p.P647fs	p.P654fs	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		23	2207	-			654			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Frame_Shift_Del	DEL	ENST00000334456.5	37	c.1962delC	CCDS8216.1																																																																																				0.582	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		2	4						2	4	---	---	---	---
DLAT	1737	broad.mit.edu	37	11	111930686	111930690	+	Frame_Shift_Del	DEL	TTGTG	TTGTG	-			TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr11:111930686_111930690delTTGTG	ENST00000280346.6	+	12	2233_2237	c.1574_1578delTTGTG	c.(1573-1578)attgtgfs	p.IV525fs	DLAT_ENST00000393051.1_Frame_Shift_Del_p.IV420fs|DLAT_ENST00000537636.1_Frame_Shift_Del_p.IV296fs	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	525	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		ATCACACCTATTGTGTTTAATGCAC	0.351																																						ENST00000280346.6																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22						c.(1573-1578)afs		dihydrolipoamide S-acetyltransferase	NADH(DB00157)																																			SO:0001589	frameshift_variant	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111930686_111930690delTTGTG	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1574_1578delTTGTG	11.37:g.111930686_111930690delTTGTG	ENSP00000280346:p.Ile525fs					DLAT_ENST00000537636.1_Frame_Shift_Del_p.IV296fs|DLAT_ENST00000393051.1_Frame_Shift_Del_p.IV420fs	p.IV525fs	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	12	2233_2237	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	525			Catalytic (By similarity).		Q16783|Q53EP3	Frame_Shift_Del	DEL	ENST00000280346.6	37	c.1574_1578delTTGTG	CCDS8354.1																																																																																				0.351	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		8	21						8	21	---	---	---	---
SREBF1	6720	broad.mit.edu	37	17	17718150	17718152	+	Splice_Site	DEL	GGT	GGT	-	rs143021204		TCGA-TT-A6YJ-01A-11D-A35I-08	TCGA-TT-A6YJ-10B-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa692ea3-6a32-4874-9a85-1d116dbdbb67	14d15ddc-360d-4895-ba5a-fdeec5ee713f	g.chr17:17718150_17718152delGGT	ENST00000261646.5	-	14	2783_2785	c.2599_2601delACC	c.(2599-2601)accdel	p.T867del	SREBF1_ENST00000395757.1_Splice_Site_p.T613del|SREBF1_ENST00000355815.4_Splice_Site_p.T897del|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000338854.5_Splice_Site_p.T867del	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	867					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGGACTCACCGGTGGTGGTGGCC	0.655																																						ENST00000355815.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						c.e15+1		sterol regulatory element binding transcription factor 1																																				SO:0001630	splice_region_variant	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17718150_17718152delGGT	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2602+1ACC>-	17.37:g.17718156_17718158delGGT						SREBF1_ENST00000395757.1_Splice_Site_p.T613_splice|SREBF1_ENST00000338854.5_Splice_Site_p.T867_splice|SREBF1_ENST00000261646.5_Splice_Site_p.T867_splice	p.T897_splice	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN			15	2858_2860	-			867					B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Splice_Site	DEL	ENST00000261646.5	37	c.2692_splice	CCDS11189.1																																																																																				0.655	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176	In_Frame_Del	2	4						2	4	---	---	---	---
