#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
SVIL	6840	broad.mit.edu	37	10	29775061	29775061	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr10:29775061C>T	ENST00000355867.4	-	26	5484	c.4732G>A	c.(4732-4734)Gac>Aac	p.D1578N	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.D492N|SVIL_ENST00000538146.1_Missense_Mutation_p.D370N|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.D1578N|SVIL_ENST00000375400.3_Missense_Mutation_p.D1152N|PTCHD3P1_ENST00000446807.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1578	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCCCAGTAGTCGTCATCAGGA	0.473																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4732-4734)Gac>Aac		supervillin							105.0	97.0	100.0					10																	29775061		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29775061C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4732G>A	10.37:g.29775061C>T	ENSP00000348128:p.Asp1578Asn					SVIL_ENST00000538146.1_Missense_Mutation_p.D370N|SVIL_ENST00000375400.3_Missense_Mutation_p.D1152N|SVIL_ENST00000535393.1_Missense_Mutation_p.D492N|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.D1578N	p.D1578N			O95425	SVIL_HUMAN			28	5181	-		Breast(68;0.103)	1578			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.4732G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531286	0.85706	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;D	0.86030	2.73;2.76;2.76;2.62;-2.06	4.44	3.46	0.39613	.	0.086330	0.85682	D	0.000000	D	0.82582	0.5068	L	0.48642	1.525	0.49299	D	0.999776	P;B;B;B	0.47604	0.898;0.26;0.405;0.226	P;B;B;B	0.44732	0.459;0.063;0.094;0.03	D	0.85624	0.1266	10	0.72032	D	0.01	-35.9964	14.4534	0.67401	0.1473:0.8527:0.0:0.0	.	492;370;1152;1578	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	N	1152;1578;1578;492;532;370	ENSP00000364549:D1152N;ENSP00000364547:D1578N;ENSP00000348128:D1578N;ENSP00000445472:D492N;ENSP00000440343:D370N	ENSP00000348128:D1578N	D	-	1	0	SVIL	29815067	1.000000	0.71417	0.982000	0.44146	0.898000	0.52572	4.650000	0.61440	2.469000	0.83416	0.549000	0.68633	GAC		0.473	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			11	62	0	0	0	1	0	11	62				
LBH	81606	broad.mit.edu	37	2	30480447	30480447	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr2:30480447A>G	ENST00000395323.3	+	3	486	c.278A>G	c.(277-279)gAt>gGt	p.D93G	LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000404397.1_Intron|LBH_ENST00000406087.1_3'UTR|LBH_ENST00000467242.1_3'UTR	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	93					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GATGAGCAAGATAACTGCGAA	0.557																																						ENST00000395323.3																			0				endometrium(2)|large_intestine(1)|lung(2)	5						c.(277-279)gAt>gGt		limb bud and heart development							51.0	53.0	52.0					2																	30480447		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30480447A>G	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.278A>G	2.37:g.30480447A>G	ENSP00000378733:p.Asp93Gly					LBH_ENST00000406087.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.D99G|LBH_ENST00000407930.2_Missense_Mutation_p.D76G|LBH_ENST00000404397.1_Intron|LBH_ENST00000467242.1_3'UTR	p.D93G	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN			3	486	+	Acute lymphoblastic leukemia(172;0.155)		93					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.278A>G	CCDS33173.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.398774	0.42512	.	.	ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930	.	.	.	4.78	4.78	0.61160	.	0.273464	0.36591	N	0.002515	T	0.24005	0.0581	N	0.02011	-0.69	0.44711	D	0.997705	B	0.02656	0.0	B	0.06405	0.002	T	0.07770	-1.0755	9	0.33141	T	0.24	-17.3215	8.2693	0.31833	0.9112:0.0:0.0888:0.0	.	93	Q53QV2	LBH_HUMAN	G	93;99;76	.	ENSP00000378733:D93G	D	+	2	0	LBH	30333951	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.731000	0.74785	1.796000	0.52611	0.448000	0.29417	GAT		0.557	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		13	25	0	0	0	1	0	13	25				
ADAM18	8749	broad.mit.edu	37	8	39495171	39495171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr8:39495171G>A	ENST00000265707.5	+	9	821	c.776G>A	c.(775-777)tGg>tAg	p.W259*	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	259	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTTTGGCATGGAAACGGGAC	0.358																																						ENST00000265707.5																			0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.(775-777)tGg>tAg		ADAM metallopeptidase domain 18							109.0	105.0	107.0					8																	39495171		2203	4299	6502	SO:0001587	stop_gained	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39495171G>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.776G>A	8.37:g.39495171G>A	ENSP00000265707:p.Trp259*					ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Nonsense_Mutation_p.W235*	p.W259*	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		9	821	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	259			Peptidase M12B.		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Nonsense_Mutation	SNP	ENST00000265707.5	37	c.776G>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	G	37	6.507653	0.97624	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	.	.	.	5.3	5.3	0.74995	.	0.310895	0.23859	N	0.043865	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3999	0.67037	0.0:0.0:1.0:0.0	.	.	.	.	X	259;235;191	.	ENSP00000265707:W259X	W	+	2	0	ADAM18	39614328	1.000000	0.71417	0.983000	0.44433	0.714000	0.41099	5.531000	0.67148	2.781000	0.95711	0.650000	0.86243	TGG		0.358	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		18	65	0	0	0	1	0	18	65				
CD1C	911	broad.mit.edu	37	1	158262073	158262073	+	Silent	SNP	A	A	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:158262073A>T	ENST00000368170.3	+	3	807	c.528A>T	c.(526-528)acA>acT	p.T176T		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	176					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					TCACAGAAACAGTGTATAATC	0.478																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(526-528)acA>acT		CD1c molecule							291.0	291.0	291.0					1																	158262073		2203	4300	6503	SO:0001819	synonymous_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262073A>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.528A>T	1.37:g.158262073A>T							p.T176T	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			3	807	+	all_hematologic(112;0.0378)		176					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.528A>T	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	4.473	0.087725	0.08583	.	.	ENSG00000158481	ENST00000443761	.	.	.	3.36	-6.72	0.01755	.	.	.	.	.	T	0.09512	0.0234	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26224	-1.0109	4	.	.	.	.	6.4656	0.21980	0.2122:0.4258:0.362:0.0	.	.	.	.	C	111	.	.	S	+	1	0	CD1C	156528697	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-4.793000	0.00185	-1.557000	0.01692	0.524000	0.50904	AGT		0.478	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		7	281	0	0	0	1	0	7	281				
ANK1	286	broad.mit.edu	37	8	41519413	41519413	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr8:41519413G>A	ENST00000347528.4	-	41	5608	c.5525C>T	c.(5524-5526)gCc>gTc	p.A1842V	RP11-930P14.1_ENST00000585088.1_RNA|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396942.1_Missense_Mutation_p.A1842V|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1842	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCTGGGCGGCATCGGCGCT	0.572																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5524-5526)gCc>gTc		ankyrin 1, erythrocytic							50.0	55.0	53.0					8																	41519413		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41519413G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5525C>T	8.37:g.41519413G>A	ENSP00000339620:p.Ala1842Val					RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1842V|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000396945.1_Intron	p.A1842V			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		41	5608	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1842			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5525C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223834	0.22457	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709	T;T;T;D;D;D;T	0.86432	-0.2;-0.18;-0.18;-1.71;-2.11;-2.12;-0.23	5.94	2.12	0.27331	.	0.199600	0.40144	N	0.001173	T	0.81645	0.4866	L	0.42245	1.32	0.53005	D	0.99996	P;B;B;B;B;B;B;P;P	0.39940	0.481;0.005;0.125;0.001;0.0;0.0;0.076;0.572;0.696	B;B;B;B;B;B;B;B;B	0.41946	0.137;0.002;0.056;0.0;0.0;0.001;0.042;0.371;0.173	T	0.76465	-0.2949	10	0.42905	T	0.14	.	8.182	0.31315	0.0:0.0672:0.2624:0.6704	.	117;1883;1680;1842;1842;1842;996;117;117	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.	V	1842;1842;1842;117;117;117;1883	ENSP00000339620:A1842V;ENSP00000289734:A1842V;ENSP00000380147:A1842V;ENSP00000428750:A117V;ENSP00000430368:A117V;ENSP00000319123:A117V;ENSP00000265709:A1883V	ENSP00000265709:A1883V	A	-	2	0	ANK1	41638570	0.851000	0.29673	0.459000	0.27081	0.000000	0.00434	0.325000	0.19628	0.502000	0.28037	-0.397000	0.06425	GCC		0.572	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		3	48	0	0	0	1	0	3	48				
IGKC	3514	broad.mit.edu	37	2	89160141	89160141	+	RNA	SNP	C	C	T	rs191641449		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr2:89160141C>T	ENST00000390237.2	-	0	0				AC096579.7_ENST00000430694.1_RNA|IGKJ3_ENST00000390240.2_RNA|IGKJ4_ENST00000390239.2_RNA|IGKJ2_ENST00000390241.2_RNA|IGKJ5_ENST00000390238.2_RNA|IGKJ1_ENST00000390242.2_RNA|AC096579.13_ENST00000452230.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										TAATTACTTTCCCCTTAACAA	0.403																																						ENST00000452230.1																			0																				106.0	99.0	101.0					2																	89160141		1860	4091	5951			0							g.chr2:89160141C>T	J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89160141C>T						AC096579.7_ENST00000430694.1_RNA								0	39	-									RNA	SNP	ENST00000390237.2	37																																																																																						0.403	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000323482.1	NG_000834		3	29	0	0	0	1	0	3	29				
IGHV4-4	28401	broad.mit.edu	37	14	106478466	106478466	+	RNA	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr14:106478466C>T	ENST00000390596.2	-	0	110									immunoglobulin heavy variable 4-4																		CTCCCATATCCCCATGTCTGC	0.587																																						ENST00000390596.2																			0																				61.0	59.0	59.0					14																	106478466		1889	4097	5986			0							g.chr14:106478466C>T	X62112		14q32.33	2012-02-08			ENSG00000211936	ENSG00000276775		"""Immunoglobulins / IGH locus"""	5652	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152322		14.37:g.106478466C>T														0	110	-									RNA	SNP	ENST00000390596.2	37																																																																																						0.587	IGHV4-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325884.1	NG_001019		3	42	0	0	0	1	0	3	42				
C6	729	broad.mit.edu	37	5	41160290	41160290	+	Silent	SNP	G	G	T	rs202107773		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr5:41160290G>T	ENST00000263413.3	-	11	1902	c.1638C>A	c.(1636-1638)ggC>ggA	p.G546G	C6_ENST00000337836.5_Silent_p.G546G|C6_ENST00000475349.1_5'Flank	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	546	EGF-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACCATAGGTGCCACTCTGAC	0.463																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(1636-1638)ggC>ggA		complement component 6							155.0	148.0	150.0					5																	41160290		2203	4300	6503	SO:0001819	synonymous_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41160290G>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1638C>A	5.37:g.41160290G>T						C6_ENST00000337836.5_Silent_p.G546G	p.G546G	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			11	1902	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	546			EGF-like.			Silent	SNP	ENST00000263413.3	37	c.1638C>A	CCDS3936.1																																																																																				0.463	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			19	59	1	0	7.87624e-14	1	8.37898e-14	19	59				
ABCA1	19	broad.mit.edu	37	9	107593339	107593339	+	Missense_Mutation	SNP	G	G	A	rs2853574		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr9:107593339G>A	ENST00000374736.3	-	14	2153	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	587			R -> W (in HDLD1; dbSNP:rs2853574). {ECO:0000269|PubMed:11257260}.		apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CAGACGTACCGCATGTCCTCA	0.502																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115	GRCh37	CM993803	ABCA1	M	rs2853574	c.(1759-1761)Cgg>Tgg		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						90.0	78.0	82.0					9																	107593339		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593339G>A	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1759C>T	9.37:g.107593339G>A	ENSP00000363868:p.Arg587Trp						p.R587W	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	14	2153	-			587		R -> W (in HDLD1; dbSNP:rs2853574).			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1759C>T	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759367	0.89932	.	.	ENSG00000165029	ENST00000374736	D	0.97665	-4.48	5.93	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.98557	0.9518	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99353	1.0915	10	0.66056	D	0.02	.	16.3651	0.83317	0.0:0.0:0.8671:0.1329	rs2853574	587	O95477	ABCA1_HUMAN	W	587	ENSP00000363868:R587W	ENSP00000363868:R587W	R	-	1	2	ABCA1	106633160	1.000000	0.71417	0.999000	0.59377	0.732000	0.41865	7.973000	0.88032	1.467000	0.48044	0.561000	0.74099	CGG		0.502	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		3	49	0	0	0	1	0	3	49				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000438826.3_Splice_Site								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		3	66	0	0	0	1	0	3	66				
FRS3	10817	broad.mit.edu	37	6	41738928	41738928	+	Missense_Mutation	SNP	C	C	T	rs143790685		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:41738928C>T	ENST00000373018.3	-	7	1159	c.908G>A	c.(907-909)aGc>aAc	p.S303N	FRS3_ENST00000259748.2_Missense_Mutation_p.S303N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	303					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCCTCTGGGCTCAGTCTCCA	0.652																																						ENST00000373018.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(907-909)aGc>aAc		fibroblast growth factor receptor substrate 3							35.0	37.0	37.0					6																	41738928		2203	4300	6503	SO:0001583	missense	10817				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding	g.chr6:41738928C>T	AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.908G>A	6.37:g.41738928C>T	ENSP00000362109:p.Ser303Asn					FRS3_ENST00000259748.2_Missense_Mutation_p.S303N	p.S303N	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	1159	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		303					Q5T3D5	Missense_Mutation	SNP	ENST00000373018.3	37	c.908G>A	CCDS4860.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502273	0.64298	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.25912	1.77;1.77	5.49	4.63	0.57726	.	0.505906	0.25813	N	0.028126	T	0.22322	0.0538	M	0.61703	1.905	0.37196	D	0.904138	D	0.60575	0.988	P	0.53313	0.723	T	0.04825	-1.0924	10	0.30078	T	0.28	-28.6689	9.828	0.40923	0.0:0.7829:0.1399:0.0772	.	303	O43559	FRS3_HUMAN	N	303	ENSP00000362109:S303N;ENSP00000259748:S303N	ENSP00000259748:S303N	S	-	2	0	FRS3	41846906	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.118000	0.31246	1.333000	0.45449	-0.122000	0.15005	AGC		0.652	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040532.2	NM_006653		8	23	0	0	0	1	0	8	23				
ASGR2	433	broad.mit.edu	37	17	7012080	7012080	+	Silent	SNP	G	G	A	rs201742878		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:7012080G>A	ENST00000380952.2	-	3	516	c.252C>T	c.(250-252)caC>caT	p.H84H	ASGR2_ENST00000254850.7_Intron|ASGR2_ENST00000446679.2_Silent_p.H65H|ASGR2_ENST00000355035.5_Silent_p.H84H	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	84					bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	GCTGGCCCCCGTGACCCTCAC	0.632																																						ENST00000380952.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18						c.(250-252)caC>caT		asialoglycoprotein receptor 2	Antihemophilic Factor(DB00025)	G	,,,,	0,4406		0,0,2203	69.0	59.0	62.0		252,,252,,195	0.8	0.0	17		62	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,intron,coding-synonymous,intron,coding-synonymous	ASGR2	NM_001181.4,NM_001201352.1,NM_080912.3,NM_080913.3,NM_080914.2	,,,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,,,	84/312,,84/312,,65/293	7012080	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	433				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	g.chr17:7012080G>A	M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.252C>T	17.37:g.7012080G>A						ASGR2_ENST00000355035.5_Silent_p.H84H|ASGR2_ENST00000254850.7_Intron|ASGR2_ENST00000446679.2_Silent_p.H65H	p.H84H	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN			3	516	-			84					A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Silent	SNP	ENST00000380952.2	37	c.252C>T	CCDS32544.1																																																																																				0.632	ASGR2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000220003.1	NM_080914		10	10	0	0	0	1	0	10	10				
GRIK3	2899	broad.mit.edu	37	1	37315953	37315953	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:37315953C>T	ENST00000373091.3	-	9	1301	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.D429N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	429					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				GTCAGAGAGTCGGTGACATTA	0.587																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1285-1287)Gac>Aac		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						148.0	127.0	134.0					1																	37315953		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37315953C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1285G>A	1.37:g.37315953C>T	ENSP00000362183:p.Asp429Asn					GRIK3_ENST00000373093.4_Missense_Mutation_p.D429N|GRIK3_ENST00000462621.1_5'UTR	p.D429N	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			9	1301	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	429					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1285G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953215	0.73902	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.12255	2.76;2.7	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.20941	0.0504	M	0.74546	2.27	0.80722	D	1	B;B	0.31931	0.347;0.347	B;B	0.26517	0.07;0.07	T	0.01945	-1.1242	10	0.45353	T	0.12	.	19.5771	0.95449	0.0:1.0:0.0:0.0	.	429;429	A9Z1Z8;Q13003	.;GRIK3_HUMAN	N	429	ENSP00000362183:D429N;ENSP00000362185:D429N	ENSP00000362183:D429N	D	-	1	0	GRIK3	37088540	1.000000	0.71417	0.959000	0.39883	0.922000	0.55478	7.487000	0.81328	2.617000	0.88574	0.555000	0.69702	GAC		0.587	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		22	47	0	0	0	1	0	22	47				
LASP1	3927	broad.mit.edu	37	17	37074891	37074891	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:37074891G>A	ENST00000318008.6	+	7	977	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	LASP1_ENST00000435347.3_Missense_Mutation_p.A216T|RP1-56K13.3_ENST00000580121.1_RNA|LASP1_ENST00000433206.2_Missense_Mutation_p.A160T	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	216	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CTACAGCGCCGCCGACGAGGA	0.637			T	MLL	AML																																	ENST00000318008.6				Dom	yes		17	17q11-q21.3	3927	T	LIM and SH3 protein 1			L	MLL		AML		0				breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						c.(646-648)Gcc>Acc		LIM and SH3 protein 1							105.0	94.0	98.0					17																	37074891		2203	4300	6503	SO:0001583	missense	3927					cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding	g.chr17:37074891G>A		CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.646G>A	17.37:g.37074891G>A	ENSP00000325240:p.Ala216Thr					LASP1_ENST00000433206.2_Missense_Mutation_p.A160T|LASP1_ENST00000435347.3_Missense_Mutation_p.A216T	p.A216T	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN			7	977	+			216			SH3.		B4DGQ0|Q96ED2|Q96IG0	Missense_Mutation	SNP	ENST00000318008.6	37	c.646G>A	CCDS11331.1	.	.	.	.	.	.	.	.	.	.	G	36	5.771642	0.96922	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	T;T;T	0.45276	0.9;0.9;0.9	5.39	5.39	0.77823	Src homology-3 domain (4);	3.275460	0.01554	N	0.019794	T	0.62356	0.2421	L	0.31476	0.935	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.91635	0.832;0.999	T	0.44251	-0.9340	10	0.72032	D	0.01	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	160;216	B4DGQ0;Q14847	.;LASP1_HUMAN	T	216;160;216	ENSP00000325240:A216T;ENSP00000401048:A160T;ENSP00000392853:A216T	ENSP00000325240:A216T	A	+	1	0	LASP1	34328417	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	7.795000	0.85887	2.540000	0.85666	0.462000	0.41574	GCC		0.637	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256890.3	NM_006148		26	69	0	0	0	1	0	26	69				
IL26	55801	broad.mit.edu	37	12	68619557	68619557	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr12:68619557G>A	ENST00000229134.4	-	0	44				IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26						cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CCCACTCAGCGTGTGTCACTC	0.483																																						ENST00000229134.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12								interleukin 26							140.0	125.0	130.0					12																	68619557		2203	4300	6503			55801				cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity	g.chr12:68619557G>A	AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.-21C>T	12.37:g.68619557G>A						IFNG-AS1_ENST00000536914.1_RNA		NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)	0	44	-									Translation_Start_Site	SNP	ENST00000229134.4	37		CCDS8981.1																																																																																				0.483	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402302.1	NM_018402		18	56	0	0	0	1	0	18	56				
TMED10	10972	broad.mit.edu	37	14	75602590	75602590	+	Splice_Site	SNP	C	C	G			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr14:75602590C>G	ENST00000303575.4	-	4	463		c.e4-1		TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)						beta-amyloid formation (GO:0034205)|cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPI-coated vesicle budding (GO:0035964)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|kidney development (GO:0001822)|protein oligomerization (GO:0051259)|regulated secretory pathway (GO:0045055)|response to acid chemical (GO:0001101)|response to alkaloid (GO:0043279)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle targeting, to, from or within Golgi (GO:0048199)	cis-Golgi network (GO:0005801)|COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		CTTTTGCAATCTGGAAAAGAA	0.368																																						ENST00000303575.4																			0				endometrium(1)|large_intestine(5)|lung(3)	9						c.e4-1		transmembrane emp24-like trafficking protein 10 (yeast)							70.0	67.0	68.0					14																	75602590		2203	4300	6503	SO:0001630	splice_region_variant	10972				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding	g.chr14:75602590C>G	AL832012, X97442	CCDS9840.1	14q24.3	2008-08-11			ENSG00000170348	ENSG00000170348			16998	protein-coding gene	gene with protein product		605406				7596406, 8663407	Standard	NM_006827		Approved	TMP21, P24(DELTA)	uc001xrm.1	P49755		ENST00000303575.4:c.412-1G>C	14.37:g.75602590C>G						RP11-950C14.7_ENST00000556236.1_RNA|TMED10_ENST00000557670.1_Splice_Site		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0126)	4	463	-								B2R605|Q15602|Q16536|Q86TC2|Q86TS5	Splice_Site	SNP	ENST00000303575.4	37		CCDS9840.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521318	0.85600	.	.	ENSG00000170348	ENST00000303575	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6584	0.95853	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMED10	74672343	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.442000	0.80503	2.645000	0.89757	0.460000	0.39030	.		0.368	TMED10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415034.1	NM_006827	Intron	20	40	0	0	0	1	0	20	40				
OR5D16	390144	broad.mit.edu	37	11	55606971	55606971	+	Silent	SNP	T	T	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:55606971T>A	ENST00000378396.1	+	1	744	c.744T>A	c.(742-744)acT>acA	p.T248T		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCCACCTGACTGCCATCACCA	0.507																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(742-744)acT>acA		olfactory receptor, family 5, subfamily D, member 16							145.0	125.0	132.0					11																	55606971		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606971T>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.744T>A	11.37:g.55606971T>A							p.T248T	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	744	+		all_epithelial(135;0.208)	248					Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.744T>A	CCDS31512.1																																																																																				0.507	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		11	60	0	0	0	1	0	11	60				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000567960.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000564451.1_RNA								0	354	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	30	0	0	0	1	0	5	30				
ATG2B	55102	broad.mit.edu	37	14	96829289	96829289	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr14:96829289T>C	ENST00000359933.4	-	1	918	c.25A>G	c.(25-27)Atc>Gtc	p.I9V	GSKIP_ENST00000554182.1_5'Flank|GSKIP_ENST00000555181.1_5'Flank|GSKIP_ENST00000556095.1_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	9					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTCTTCTTGATGGACTCCGAA	0.647																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(25-27)Atc>Gtc		autophagy related 2B							51.0	55.0	54.0					14																	96829289		2099	4231	6330	SO:0001583	missense	55102							g.chr14:96829289T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.25A>G	14.37:g.96829289T>C	ENSP00000353010:p.Ile9Val						p.I9V	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	1	918	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	9					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.25A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	16.03	3.008430	0.54361	.	.	ENSG00000066739	ENST00000359933	T	0.41758	0.99	4.02	4.02	0.46733	.	0.000000	0.64402	U	0.000004	T	0.50803	0.1637	L	0.45285	1.41	0.45330	D	0.998324	D	0.59357	0.985	D	0.67548	0.952	T	0.39396	-0.9616	10	0.16420	T	0.52	.	13.0934	0.59178	0.0:0.0:0.0:1.0	.	9	Q96BY7	ATG2B_HUMAN	V	9	ENSP00000353010:I9V	ENSP00000353010:I9V	I	-	1	0	ATG2B	95899042	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	7.106000	0.77039	1.674000	0.50907	0.402000	0.26972	ATC		0.647	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		18	61	0	0	0	1	0	18	61				
CNTNAP2	26047	broad.mit.edu	37	7	146829588	146829588	+	Silent	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr7:146829588C>T	ENST00000361727.3	+	8	1851	c.1335C>T	c.(1333-1335)atC>atT	p.I445I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	445	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGAGCCAAATCGATATTTCCT	0.403										HNSCC(39;0.1)																												ENST00000361727.3																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(1333-1335)atC>atT		contactin associated protein-like 2							110.0	93.0	99.0					7																	146829588		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146829588C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1335C>T	7.37:g.146829588C>T		HNSCC(39;0.1)					p.I445I	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		8	1851	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	445			Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.1335C>T	CCDS5889.1																																																																																				0.403	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			13	44	0	0	0	1	0	13	44				
NRG1	3084	broad.mit.edu	37	8	32621514	32621514	+	Missense_Mutation	SNP	C	C	T	rs572301736		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr8:32621514C>T	ENST00000405005.3	+	12	1517	c.1517C>T	c.(1516-1518)gCg>gTg	p.A506V	NRG1_ENST00000287842.3_Missense_Mutation_p.A503V|NRG1_ENST00000287845.5_Missense_Mutation_p.A477V|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.A456V|NRG1_ENST00000539990.1_Missense_Mutation_p.A349V|NRG1_ENST00000356819.4_Missense_Mutation_p.A511V|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000338921.4_Missense_Mutation_p.A514V|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	506					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CACAACCCCGCGCATGACAGT	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17974	0.0		0.0	False		,,,				2504	0.0					ENST00000338921.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1540-1542)gCg>gTg		neuregulin 1							104.0	82.0	89.0					8																	32621514		2203	4300	6503	SO:0001583	missense	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621514C>T	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1517C>T	8.37:g.32621514C>T	ENSP00000384620:p.Ala506Val					NRG1_ENST00000519301.1_Missense_Mutation_p.A456V|NRG1_ENST00000539990.1_Missense_Mutation_p.A349V|NRG1_ENST00000287845.5_Missense_Mutation_p.A477V|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.A503V|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Missense_Mutation_p.A511V|NRG1_ENST00000405005.2_Missense_Mutation_p.A506V|NRG1_ENST00000287840.5_Missense_Mutation_p.A506V	p.A514V			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	2058	+		Breast(100;0.203)	506					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.1541C>T	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	C	2.229	-0.376655	0.05000	.	.	ENSG00000157168	ENST00000518104;ENST00000519301;ENST00000523534;ENST00000338921;ENST00000356819;ENST00000287840;ENST00000287845;ENST00000287842;ENST00000405005;ENST00000539990	T;T;T;T;T;T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31;0.31	5.75	1.44	0.22558	Neuregulin 1-related, C-terminal (1);	0.245097	0.39210	N	0.001424	T	0.34571	0.0902	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B	0.21452	0.056;0.01;0.007;0.0;0.026;0.018;0.006	B;B;B;B;B;B;B	0.16722	0.016;0.009;0.015;0.0;0.009;0.015;0.009	T	0.25710	-1.0124	10	0.54805	T	0.06	-11.3637	8.1095	0.30907	0.0:0.6117:0.1098:0.2786	.	349;477;511;514;503;506;511	B7Z1E3;F8W9E3;Q7RTW4;Q02297-2;Q02297-7;Q02297;Q02297-6	.;.;.;.;.;NRG1_HUMAN;.	V	473;456;579;514;511;506;477;503;506;349	ENSP00000430053:A473V;ENSP00000429582:A456V;ENSP00000429067:A579V;ENSP00000343395:A514V;ENSP00000349275:A511V;ENSP00000287840:A506V;ENSP00000287845:A477V;ENSP00000287842:A503V;ENSP00000384620:A506V;ENSP00000439276:A349V	ENSP00000287840:A506V	A	+	2	0	NRG1	32741056	0.365000	0.25006	0.919000	0.36401	0.012000	0.07955	0.541000	0.23207	0.366000	0.24427	-0.463000	0.05309	GCG		0.547	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			9	24	0	0	0	1	0	9	24				
BAI3	577	broad.mit.edu	37	6	69703688	69703688	+	Missense_Mutation	SNP	G	G	A	rs369405391		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:69703688G>A	ENST00000370598.1	+	11	2584	c.1763G>A	c.(1762-1764)cGa>cAa	p.R588Q		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	588					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R588P(1)|p.R588Q(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGGGCAGCGAATGCTGGCA	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		19359	0.0		0.0	False		,,,				2504	0.001					ENST00000370598.1																			2	Substitution - Missense(2)	p.R588P(1)|p.R588Q(1)	lung(1)|skin(1)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1762-1764)cGa>cAa		brain-specific angiogenesis inhibitor 3		G	GLN/ARG	0,4406		0,0,2203	212.0	227.0	222.0		1763	5.8	0.7	6		222	1,8599	1.2+/-3.3	0,1,4299	no	missense	BAI3	NM_001704.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	588/1523	69703688	1,13005	2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703688G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1763G>A	6.37:g.69703688G>A	ENSP00000359630:p.Arg588Gln						p.R588Q	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			11	2584	+		all_lung(197;0.212)	588					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.1763G>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	36	5.722926	0.96847	0.0	1.16E-4	ENSG00000135298	ENST00000370598	T	0.11821	2.74	5.85	5.85	0.93711	Domain of unknown function DUF3497 (1);	0.072165	0.52532	D	0.000077	T	0.28665	0.0710	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00829	-1.1549	10	0.66056	D	0.02	.	20.1606	0.98132	0.0:0.0:1.0:0.0	.	588	O60242	BAI3_HUMAN	Q	588	ENSP00000359630:R588Q	ENSP00000359630:R588Q	R	+	2	0	BAI3	69760409	1.000000	0.71417	0.739000	0.30968	0.993000	0.82548	9.837000	0.99465	2.772000	0.95346	0.650000	0.86243	CGA		0.418	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			33	171	0	0	0	1	0	33	171				
PLPPR5	163404	broad.mit.edu	37	1	99380467	99380467	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:99380467C>T	ENST00000263177.4	-	5	1029	c.808G>A	c.(808-810)Gtg>Atg	p.V270M	LPPR5_ENST00000370188.3_Missense_Mutation_p.V270M	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		270						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										TTATTCACCACGCACACAACC	0.393																																						ENST00000370188.3																			0											c.(808-810)Gtg>Atg									158.0	152.0	154.0					1																	99380467		2203	4300	6503	SO:0001583	missense	0					integral to membrane	hydrolase activity	g.chr1:99380467C>T																												ENST00000263177.4:c.808G>A	1.37:g.99380467C>T	ENSP00000263177:p.Val270Met					LPPR5_ENST00000263177.4_Missense_Mutation_p.V270M	p.V270M	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN			5	1168	-			270					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.808G>A	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672630	0.88348	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.75477	-0.94;-0.94	5.98	5.98	0.97165	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.063249	0.64402	D	0.000006	D	0.88355	0.6414	M	0.89840	3.065	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.89456	0.3733	10	0.87932	D	0	.	19.4463	0.94849	0.0:1.0:0.0:0.0	.	270;270	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	M	270	ENSP00000359207:V270M;ENSP00000263177:V270M	ENSP00000263177:V270M	V	-	1	0	AL161744.1	99153055	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.698000	0.74608	2.835000	0.97688	0.650000	0.86243	GTG		0.393	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			19	98	0	0	0	1	0	19	98				
LDHC	3948	broad.mit.edu	37	11	18460141	18460141	+	Missense_Mutation	SNP	C	C	T	rs181881801		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:18460141C>T	ENST00000541669.1	+	6	770	c.659C>T	c.(658-660)aCg>aTg	p.T220M	LDHC_ENST00000544105.1_Missense_Mutation_p.T220M|LDHC_ENST00000280704.4_Missense_Mutation_p.T220M|LDHC_ENST00000536880.1_Missense_Mutation_p.T206M|LDHC_ENST00000546146.1_Missense_Mutation_p.T162M|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000537486.1_Intron			P07864	LDHC_HUMAN	lactate dehydrogenase C	220					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATTAGGAACGGATTCAGAT	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		19905	0.001		0.0	False		,,,				2504	0.0					ENST00000541669.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(658-660)aCg>aTg		lactate dehydrogenase C	NADH(DB00157)						149.0	136.0	140.0					11																	18460141		2199	4293	6492	SO:0001583	missense	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18460141C>T	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.659C>T	11.37:g.18460141C>T	ENSP00000437783:p.Thr220Met					LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.T206M|LDHC_ENST00000280704.4_Missense_Mutation_p.T220M|LDHC_ENST00000546146.1_Missense_Mutation_p.T162M|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000544105.1_Missense_Mutation_p.T220M	p.T220M			P07864	LDHC_HUMAN			6	770	+			220					D3DQY4|Q6GSG8|Q7Z7J4	Missense_Mutation	SNP	ENST00000541669.1	37	c.659C>T	CCDS7840.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.804	0.933576	0.18206	.	.	ENSG00000166796	ENST00000541669;ENST00000280704;ENST00000546146;ENST00000536880;ENST00000544105	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.4	2.44	0.29823	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.175696	0.49305	D	0.000142	T	0.62684	0.2448	M	0.64260	1.97	0.80722	D	1	P;P	0.39376	0.619;0.67	B;B	0.34652	0.075;0.187	T	0.66212	-0.5980	10	0.56958	D	0.05	-12.6413	16.3324	0.83048	0.0:0.6272:0.3728:0.0	.	220;220	G3XAP5;P07864	.;LDHC_HUMAN	M	220;220;162;206;220	ENSP00000437783:T220M;ENSP00000280704:T220M;ENSP00000443414:T162M;ENSP00000439555:T206M;ENSP00000439060:T220M	ENSP00000280704:T220M	T	+	2	0	LDHC	18416717	0.999000	0.42202	0.701000	0.30321	0.013000	0.08279	2.905000	0.48727	0.378000	0.24764	0.655000	0.94253	ACG		0.358	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		14	42	0	0	0	1	0	14	42				
INTS2	57508	broad.mit.edu	37	17	60003895	60003895	+	Silent	SNP	A	A	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr17:60003895A>C	ENST00000444766.3	-	2	210	c.135T>G	c.(133-135)ctT>ctG	p.L45L	INTS2_ENST00000251334.6_Silent_p.L37L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	45					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AACAGGGCAGAAGAAGTCTTA	0.478																																						ENST00000444766.3																			0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(133-135)ctT>ctG		integrator complex subunit 2							73.0	68.0	70.0					17																	60003895		1925	4141	6066	SO:0001819	synonymous_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:60003895A>C	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.135T>G	17.37:g.60003895A>C						INTS2_ENST00000251334.6_Silent_p.L37L	p.L45L	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN			2	210	-			45					Q9ULD3	Silent	SNP	ENST00000444766.3	37	c.135T>G	CCDS45750.1																																																																																				0.478	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748		6	14	0	0	0	1	0	6	14				
JAKMIP1	152789	broad.mit.edu	37	4	6087153	6087153	+	Silent	SNP	G	G	A	rs145998748	byFrequency	TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr4:6087153G>A	ENST00000282924.5	-	4	1313	c.828C>T	c.(826-828)ggC>ggT	p.G276G	JAKMIP1_ENST00000409021.3_Silent_p.G276G|JAKMIP1_ENST00000409371.3_Silent_p.G111G|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.G276G|JAKMIP1_ENST00000410077.2_Silent_p.G111G	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	276	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCACCTGGACGCCCATGAGCT	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17556	0.0		0.0	False		,,,				2504	0.0					ENST00000409021.3																			0				NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(826-828)ggC>ggT		janus kinase and microtubule interacting protein 1		G	,	4,4402	8.1+/-20.4	0,4,2199	31.0	32.0	32.0		828,828	-2.7	0.0	4	dbSNP_134	32	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	JAKMIP1	NM_001099433.1,NM_144720.3	,	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	,	276/832,276/627	6087153	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6087153G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.828C>T	4.37:g.6087153G>A						JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Silent_p.G276G|JAKMIP1_ENST00000410077.2_Silent_p.G111G|JAKMIP1_ENST00000409831.1_Silent_p.G276G|JAKMIP1_ENST00000409371.3_Silent_p.G111G	p.G276G	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			4	1277	-			276			Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.828C>T	CCDS3385.1																																																																																				0.617	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		8	26	0	0	0	1	0	8	26				
DNHD1	144132	broad.mit.edu	37	11	6541310	6541310	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:6541310C>T	ENST00000527990.2	+	7	1763	c.1763C>T	c.(1762-1764)tCt>tTt	p.S588F	DNHD1_ENST00000254579.6_Missense_Mutation_p.S588F|DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	588					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCCTACAGTCTGTCAAGACC	0.483																																						ENST00000254579.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55						c.(1762-1764)tCt>tTt		dynein heavy chain domain 1							90.0	81.0	84.0					11																	6541310		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6541310C>T	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1763C>T	11.37:g.6541310C>T	ENSP00000436180:p.Ser588Phe					DNHD1_ENST00000527990.2_Missense_Mutation_p.S588F|DNHD1_ENST00000354685.3_Missense_Mutation_p.S588F	p.S588F	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	9	2327	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	588					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.1763C>T	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423370	0.43020	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.28666	1.6;2.64;1.6	5.68	1.36	0.22044	.	1.079220	0.07045	N	0.830885	T	0.22742	0.0549	L	0.29908	0.895	0.09310	N	1	B;B	0.17465	0.022;0.009	B;B	0.14023	0.008;0.01	T	0.30794	-0.9966	10	0.62326	D	0.03	.	6.274	0.20971	0.4785:0.4355:0.0:0.086	.	588;588	Q96M86;Q96M86-4	DNHD1_HUMAN;.	F	588	ENSP00000254579:S588F;ENSP00000346716:S588F;ENSP00000436180:S588F	ENSP00000254579:S588F	S	+	2	0	DNHD1	6497886	0.000000	0.05858	0.000000	0.03702	0.456000	0.32438	-0.293000	0.08320	0.298000	0.22638	0.561000	0.74099	TCT		0.483	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		13	36	0	0	0	1	0	13	36				
MYB	4602	broad.mit.edu	37	6	135515025	135515025	+	Missense_Mutation	SNP	A	A	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr6:135515025A>T	ENST00000367814.4	+	7	998	c.812A>T	c.(811-813)aAt>aTt	p.N271I	MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000341911.5_Missense_Mutation_p.N271I|MYB_ENST00000533624.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000442647.2_Missense_Mutation_p.N271I	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	271					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AATATAGTCAATGTCCCTCAG	0.413			T	NFIB	adenoid cystic carcinoma																																	ENST00000341911.5				Dom	yes		6	6q22-23	4602	T	v-myb myeloblastosis viral oncogene homolog			E	NFIB		adenoid cystic carcinoma		0				breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(811-813)aAt>aTt		v-myb avian myeloblastosis viral oncogene homolog							178.0	160.0	166.0					6																	135515025		2203	4300	6503	SO:0001583	missense	4602				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	g.chr6:135515025A>T		CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.812A>T	6.37:g.135515025A>T	ENSP00000356788:p.Asn271Ile					MYB_ENST00000442647.2_Missense_Mutation_p.N271I|MYB_ENST00000420123.2_Missense_Mutation_p.N247I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Missense_Mutation_p.N271I|MYB_ENST00000367814.4_Missense_Mutation_p.N271I|MYB_ENST00000528774.1_Missense_Mutation_p.N271I|MYB_ENST00000534121.1_Missense_Mutation_p.N271I|MYB_ENST00000534044.1_Missense_Mutation_p.N271I|MYB_ENST00000527615.1_Missense_Mutation_p.N271I|MYB_ENST00000525369.1_Missense_Mutation_p.N271I|MYB_ENST00000533624.1_Missense_Mutation_p.N271I	p.N271I	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)	7	1011	+	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)	271					E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	c.812A>T	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431501	0.83776	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T	0.32515	2.69;2.21;2.2;2.21;1.45;1.9;2.69;2.68;1.87;2.22	5.23	5.23	0.72850	Transcription regulator Wos2-domain (1);	0.000000	0.85682	D	0.000000	T	0.35566	0.0936	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D;D;D;P;D	0.89917	0.998;1.0;1.0;1.0;1.0;0.992;0.975;1.0;0.716;1.0	D;D;D;D;D;D;P;D;B;D	0.97110	0.993;0.999;0.999;0.998;1.0;0.972;0.843;0.999;0.289;0.999	T	0.16247	-1.0409	10	0.48119	T	0.1	-15.1899	15.1257	0.72481	1.0:0.0:0.0:0.0	.	271;271;247;271;271;271;271;271;271;271	E9PI07;E9PLZ5;E9PMQ0;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;.;MYB_HUMAN;.	I	271;271;271;271;271;271;247;271;271;271;271;271;225	ENSP00000339992:N271I;ENSP00000410825:N271I;ENSP00000326328:N271I;ENSP00000356788:N271I;ENSP00000433227:N271I;ENSP00000435938:N271I;ENSP00000434723:N271I;ENSP00000432851:N271I;ENSP00000435055:N271I;ENSP00000436605:N271I	ENSP00000237302:N271I	N	+	2	0	MYB	135556718	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.406000	0.80017	1.973000	0.57446	0.528000	0.53228	AAT		0.413	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4			24	61	0	0	0	1	0	24	61				
TNFRSF8	943	broad.mit.edu	37	1	12170181	12170181	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:12170181G>A	ENST00000263932.2	+	6	818	c.596G>A	c.(595-597)cGc>cAc	p.R199H	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R88H	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	199					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GGGGGCACCCGCCTCGCCCAG	0.622																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(595-597)cGc>cAc		tumor necrosis factor receptor superfamily, member 8							49.0	47.0	48.0					1																	12170181		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12170181G>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.596G>A	1.37:g.12170181G>A	ENSP00000263932:p.Arg199His					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R88H	p.R199H	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	818	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	199					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.596G>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	8.840	0.942073	0.18281	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.06768	3.26;3.26	3.76	-1.94	0.07571	.	26.210300	0.00166	N	0.000000	T	0.03011	0.0089	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.34675	-0.9819	10	0.40728	T	0.16	-0.0783	0.3743	0.00384	0.3328:0.2836:0.1593:0.2244	.	88;199	D3YTD8;P28908	.;TNR8_HUMAN	H	199;88	ENSP00000263932:R199H;ENSP00000390650:R88H	ENSP00000263932:R199H	R	+	2	0	TNFRSF8	12092768	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.006000	0.03671	-0.358000	0.08162	-1.297000	0.01338	CGC		0.622	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			16	25	0	0	0	1	0	16	25				
RYR2	6262	broad.mit.edu	37	1	237947732	237947732	+	Silent	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:237947732G>A	ENST00000366574.2	+	90	13037	c.12720G>A	c.(12718-12720)acG>acA	p.T4240T	RYR2_ENST00000542537.1_Silent_p.T4224T|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.T4246T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4240					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|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)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCATTCTGACGGTCAGGTCGG	0.507																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(12718-12720)acG>acA		ryanodine receptor 2 (cardiac)							56.0	62.0	60.0					1																	237947732		1971	4147	6118	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947732G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12720G>A	1.37:g.237947732G>A						RYR2_ENST00000542537.1_Silent_p.T4224T|RYR2_ENST00000360064.6_Silent_p.T4246T	p.T4240T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	13037	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4240					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12720G>A	CCDS55691.1																																																																																				0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	25	0	0	0	1	0	7	25				
AASDHPPT	60496	broad.mit.edu	37	11	105948438	105948438	+	Start_Codon_SNP	SNP	A	A	C	rs370431948		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr11:105948438A>C	ENST00000278618.4	+	1	223	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	KBTBD3_ENST00000534815.1_5'Flank|KBTBD3_ENST00000531837.1_5'UTR|KBTBD3_ENST00000526793.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	1					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CTTTCAGTGTATGGTTTTCCC	0.667																																						ENST00000278618.4																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17						c.(1-3)Atg>Ctg		aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase		A	LEU/MET,,	0,4402		0,0,2201	79.0	70.0	73.0		1,,	2.2	0.3	11		73	1,8597	1.2+/-3.3	0,1,4298	no	missense,utr-5,utr-5	AASDHPPT,KBTBD3	NM_015423.2,NM_152433.3,NM_198439.2	15,,	0,1,6499	CC,CA,AA		0.0116,0.0,0.0077	benign,,	1/310,,	105948438	1,12999	2201	4299	6500	SO:0001582	initiator_codon_variant	60496				macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	g.chr11:105948438A>C	AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.1A>C	11.37:g.105948438A>C	ENSP00000278618:p.Met1Leu					KBTBD3_ENST00000531837.1_5'UTR	p.M1L	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)	1	223	+		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	1					B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Translation_Start_Site	SNP	ENST00000278618.4	37	c.1A>C	CCDS31664.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357279	0.41801	0.0	1.16E-4	ENSG00000149313	ENST00000278618	.	.	.	4.54	2.2	0.27929	.	0.664334	0.14581	N	0.310851	T	0.30324	0.0761	.	.	.	0.25205	N	0.990028	B	0.10296	0.003	B	0.04013	0.001	T	0.26538	-1.0100	8	0.87932	D	0	.	6.03	0.19675	0.7907:0.0:0.2093:0.0	.	1	Q9NRN7	ADPPT_HUMAN	L	1	.	ENSP00000278618:M1L	M	+	1	0	AASDHPPT	105453648	0.456000	0.25744	0.276000	0.24689	0.235000	0.25334	0.792000	0.26929	0.361000	0.24292	0.460000	0.39030	ATG		0.667	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388734.1	NM_015423	Missense_Mutation	8	43	0	0	0	1	0	8	43				
MYOM3	127294	broad.mit.edu	37	1	24397629	24397629	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr1:24397629T>C	ENST00000374434.3	-	25	3290	c.3128A>G	c.(3127-3129)aAc>aGc	p.N1043S	MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Missense_Mutation_p.N1044S	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1043						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GATCTCCTTGTTGTTGAAGAT	0.567											OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3130-3132)aAc>aGc		myomesin 3							72.0	71.0	71.0					1																	24397629		1923	4133	6056	SO:0001583	missense	127294							g.chr1:24397629T>C	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3128A>G	1.37:g.24397629T>C	ENSP00000363557:p.Asn1043Ser		OREG0013235	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	771	MYOM3_ENST00000374434.3_Missense_Mutation_p.N1043S|MYOM3_ENST00000329601.7_Missense_Mutation_p.N1043S|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_RNA	p.N1044S			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	25	3293	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1043					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3131A>G	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.957432	0.53400	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.04706	3.57;3.57;3.57	5.54	4.41	0.53225	Immunoglobulin-like fold (1);	0.323500	0.36628	N	0.002492	T	0.06050	0.0157	L	0.40543	1.245	0.22851	N	0.998654	B;B	0.18166	0.026;0.011	B;B	0.28916	0.096;0.014	T	0.28004	-1.0057	10	0.62326	D	0.03	.	9.2857	0.37755	0.0:0.1484:0.0:0.8516	.	1043;1043	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	S	1043;1044;1043	ENSP00000363557:N1043S;ENSP00000332670:N1044S;ENSP00000328415:N1043S	ENSP00000328415:N1043S	N	-	2	0	MYOM3	24270216	0.986000	0.35501	0.966000	0.40874	0.909000	0.53808	4.369000	0.59511	0.930000	0.37217	0.379000	0.24179	AAC		0.567	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	44	0	0	0	1	0	4	44				
PRRT3	285368	broad.mit.edu	37	3	9990882	9990882	+	Silent	SNP	C	C	T	rs370534364		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr3:9990882C>T	ENST00000412055.1	-	2	1047	c.918G>A	c.(916-918)ccG>ccA	p.P306P	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Silent_p.P306P	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	306	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCTGCTTGGGCGGGGGACCTG	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16496	0.0		0.0	False		,,,				2504	0.0					ENST00000412055.1																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						c.(916-918)ccG>ccA		proline-rich transmembrane protein 3		C		0,3892		0,0,1946	63.0	71.0	68.0		918	-5.8	0.0	3		68	2,8294		0,2,4146	no	coding-synonymous	PRRT3	NM_207351.3		0,2,6092	TT,TC,CC		0.0241,0.0,0.0164		306/982	9990882	2,12186	1946	4148	6094	SO:0001819	synonymous_variant	285368					integral to membrane		g.chr3:9990882C>T	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.918G>A	3.37:g.9990882C>T						PRRT3_ENST00000411976.2_Silent_p.P306P|PRRT3-AS1_ENST00000431558.1_RNA	p.P306P	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN			2	1047	-			306			Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Silent	SNP	ENST00000412055.1	37	c.918G>A	CCDS43049.1																																																																																				0.652	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351		12	43	0	0	0	1	0	12	43				
ITIH6	347365	broad.mit.edu	37	X	54783701	54783701	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chrX:54783701G>T	ENST00000218436.6	-	8	2835	c.2806C>A	c.(2806-2808)Ccc>Acc	p.P936T		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	936	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTTCCAGGGGGCAGAGTGGGA	0.562																																						ENST00000218436.6																			0											c.(2806-2808)Ccc>Acc		inter-alpha-trypsin inhibitor heavy chain family, member 6							62.0	58.0	59.0					X																	54783701		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783701G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2806C>A	X.37:g.54783701G>T	ENSP00000218436:p.Pro936Thr						p.P936T	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2835	-			936			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2806C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	2.583	-0.296887	0.05532	.	.	ENSG00000102313	ENST00000218436	T	0.03065	4.06	3.88	0.798	0.18660	.	4.604970	0.01130	N	0.005960	T	0.02533	0.0077	N	0.19112	0.55	0.09310	N	1	P	0.37330	0.59	B	0.27262	0.078	T	0.33854	-0.9852	10	0.46703	T	0.11	.	2.3585	0.04301	0.2849:0.0:0.4714:0.2437	.	936	Q6UXX5	ITH5L_HUMAN	T	936	ENSP00000218436:P936T	ENSP00000218436:P936T	P	-	1	0	ITIH5L	54800426	0.338000	0.24775	0.010000	0.14722	0.040000	0.13550	1.737000	0.38197	0.594000	0.29761	0.506000	0.49869	CCC		0.562	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		11	13	1	0	0.0692343	1	0.0706473	11	13				
PRR23B	389151	broad.mit.edu	37	3	138739004	138739004	+	Missense_Mutation	SNP	C	C	T	rs376706999		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr3:138739004C>T	ENST00000329447.5	-	1	764	c.500G>A	c.(499-501)cGg>cAg	p.R167Q	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	167								p.R167Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGTCCATCCGGAGCTCCGG	0.647																																						ENST00000329447.5																			1	Substitution - Missense(1)	p.R167Q(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(499-501)cGg>cAg		proline rich 23B		C	GLN/ARG	0,4402		0,0,2201	31.0	39.0	36.0		500	0.2	0.0	3		36	1,8597	1.2+/-3.3	0,1,4298	no	missense	PRR23B	NM_001013650.2	43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	167/266	138739004	1,12999	2201	4299	6500	SO:0001583	missense	389151							g.chr3:138739004C>T	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.500G>A	3.37:g.138739004C>T	ENSP00000328768:p.Arg167Gln					MRPS22_ENST00000495075.1_Intron	p.R167Q	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN			1	764	-			167					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.500G>A	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	C	8.796	0.931691	0.18131	0.0	1.16E-4	ENSG00000184814	ENST00000329447	.	.	.	3.14	0.243	0.15503	.	1.288490	0.05675	N	0.589327	T	0.24044	0.0582	L	0.44542	1.39	0.09310	N	1	P	0.43973	0.823	B	0.33196	0.159	T	0.20874	-1.0262	9	0.23302	T	0.38	.	5.4872	0.16757	0.0:0.6056:0.0:0.3944	.	167	Q6ZRT6	PR23B_HUMAN	Q	167	.	ENSP00000328768:R167Q	R	-	2	0	PRR23B	140221694	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.107000	0.10873	0.036000	0.15547	0.456000	0.33151	CGG		0.647	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		5	29	0	0	0	1	0	5	29				
NCOA6	23054	broad.mit.edu	37	20	33324502	33324502	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr20:33324502G>A	ENST00000374796.2	-	13	8524	c.5954C>T	c.(5953-5955)gCc>gTc	p.A1985V	NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1985	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACCTGGTCTGGCAACAGAGGC	0.453																																						ENST00000374796.2																			0				NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(5953-5955)gCc>gTc		nuclear receptor coactivator 6							94.0	82.0	86.0					20																	33324502		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33324502G>A	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5954C>T	20.37:g.33324502G>A	ENSP00000363929:p.Ala1985Val					NCOA6_ENST00000359003.2_Missense_Mutation_p.A1985V	p.A1985V			Q14686	NCOA6_HUMAN			13	8524	-			1985			EP300/CRSP3-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.5954C>T	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103898	0.37145	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.23552	1.9;1.9	5.82	2.55	0.30701	.	0.679259	0.14001	N	0.348120	T	0.12050	0.0293	N	0.14661	0.345	0.24698	N	0.993273	B	0.02656	0.0	B	0.01281	0.0	T	0.21793	-1.0235	10	0.28530	T	0.3	0.028	3.2011	0.06650	0.0928:0.1318:0.5268:0.2486	.	1985	Q14686	NCOA6_HUMAN	V	1985	ENSP00000363929:A1985V;ENSP00000351894:A1985V	ENSP00000351894:A1985V	A	-	2	0	NCOA6	32788163	1.000000	0.71417	0.995000	0.50966	0.628000	0.37860	1.872000	0.39549	0.791000	0.33826	0.591000	0.81541	GCC		0.453	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	52	0	0	0	1	0	3	52				
GGT7	2686	broad.mit.edu	37	20	33440316	33440316	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr20:33440316C>A	ENST00000336431.5	-	11	1389	c.1345G>T	c.(1345-1347)Ggc>Tgc	p.G449C	GGT7_ENST00000469018.1_5'Flank	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	449					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TTGATATGGCCCCGGAGGTAG	0.582																																						ENST00000336431.5																			0				NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						c.(1345-1347)Ggc>Tgc		gamma-glutamyltransferase 7							39.0	43.0	42.0					20																	33440316		2203	4300	6503	SO:0001583	missense	2686				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr20:33440316C>A	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1345G>T	20.37:g.33440316C>A	ENSP00000338964:p.Gly449Cys						p.G449C	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN			11	1389	-			449					Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	c.1345G>T	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645896	0.87958	.	.	ENSG00000131067	ENST00000336431	T	0.06608	3.28	6.17	5.18	0.71444	.	0.112979	0.64402	D	0.000011	T	0.08980	0.0222	N	0.10645	0.015	0.44048	D	0.996786	D;D	0.63880	0.993;0.993	P;P	0.60173	0.815;0.87	T	0.32188	-0.9916	10	0.56958	D	0.05	-25.6616	13.7085	0.62654	0.0:0.7548:0.2452:0.0	.	449;449	A4FU32;Q9UJ14	.;GGT7_HUMAN	C	449	ENSP00000338964:G449C	ENSP00000338964:G449C	G	-	1	0	GGT7	32903977	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.697000	0.47060	2.941000	0.99782	0.655000	0.94253	GGC		0.582	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2	NM_178026		9	48	1	0	2.17888e-05	1	2.26966e-05	9	48				
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT								NR_003264.2						0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			6	13						6	13	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-2A-A8VL-01A-21D-A377-08	TCGA-2A-A8VL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47c9044-6b22-4de5-bb95-8f1114d63b96	58fd9726-f7b9-4e5a-8e51-73a8971a1317	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			7	12						7	12	---	---	---	---
