#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
PCDHA8	56140	broad.mit.edu	37	5	140222517	140222517	+	Silent	SNP	G	G	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr5:140222517G>A	ENST00000531613.1	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A537A|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.667																																						ENST00000531613.1																			0				NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1609-1611)gcG>gcA									54.0	64.0	61.0					5																	140222517		2194	4269	6463	SO:0001819	synonymous_variant	0							g.chr5:140222517G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1611G>A	5.37:g.140222517G>A						PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000378123.3_Silent_p.A537A|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A537A	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1611	+								B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	c.1611G>A	CCDS54919.1																																																																																				0.667	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		12	128	0	0	0	1	0	12	128				
OR8H1	219469	broad.mit.edu	37	11	56058345	56058345	+	Missense_Mutation	SNP	T	T	G	rs374183508		TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:56058345T>G	ENST00000313022.2	-	1	221	c.194A>C	c.(193-195)cAc>cCc	p.H65P		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAATGACAAGTGAGTAAGGAA	0.423																																						ENST00000313022.2																			0				NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(193-195)cAc>cCc		olfactory receptor, family 8, subfamily H, member 1							264.0	252.0	256.0					11																	56058345		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058345T>G	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.194A>C	11.37:g.56058345T>G	ENSP00000323595:p.His65Pro						p.H65P	NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN			1	221	-	Esophageal squamous(21;0.00448)		65					B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.194A>C	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	9.729	1.161721	0.21538	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.02974	4.09	3.94	2.83	0.33086	GPCR, rhodopsin-like superfamily (1);	0.230003	0.31233	N	0.008008	T	0.11239	0.0274	M	0.89030	3	0.09310	N	1	P	0.52842	0.956	P	0.55391	0.775	T	0.02639	-1.1130	10	0.87932	D	0	.	7.3536	0.26706	0.0:0.1774:0.0:0.8226	.	65	Q8NGG4	OR8H1_HUMAN	P	65;61	ENSP00000323595:H65P	ENSP00000323595:H65P	H	-	2	0	OR8H1	55814921	0.000000	0.05858	0.010000	0.14722	0.002000	0.02628	0.631000	0.24568	1.744000	0.51775	0.445000	0.29226	CAC		0.423	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		21	328	0	0	0	1	0	21	328				
ACTN3	89	broad.mit.edu	37	11	66321555	66321555	+	RNA	SNP	T	T	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:66321555T>A	ENST00000502692.1	+	0	667				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CTGGGCATGATCTGGACCATC	0.567																																						ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							129.0	118.0	122.0					11																	66321555		2200	4295	6495			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321555T>A	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321555T>A						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	519	+								A6NP77|Q4KKV2	RNA	SNP	ENST00000502692.1	37																																																																																						0.567	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		5	43	0	0	0	1	0	5	43				
CLPB	81570	broad.mit.edu	37	11	72040797	72040797	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:72040797G>A	ENST00000294053.3	-	7	1090	c.917C>T	c.(916-918)gCc>gTc	p.A306V	CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	306					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CCCTTCTCGGGCATAATCCAA	0.512																																						ENST00000294053.3																			0				endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						c.(916-918)gCc>gTc		ClpB caseinolytic peptidase B homolog (E. coli)							101.0	97.0	98.0					11																	72040797		2200	4293	6493	SO:0001583	missense	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72040797G>A	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.917C>T	11.37:g.72040797G>A	ENSP00000294053:p.Ala306Val					CLPB_ENST00000340729.5_Missense_Mutation_p.A247V|CLPB_ENST00000437826.2_Missense_Mutation_p.A261V|CLPB_ENST00000543042.1_Missense_Mutation_p.A105V|CLPB_ENST00000538039.1_Missense_Mutation_p.A276V	p.A306V	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN			7	1090	-			306					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	c.917C>T	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.88|14.88	2.668689|2.668689	0.47677|0.47677	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683|ENST00000544382	T;D;T;D;T;T;D|.	0.81739|.	0.5;-1.53;-0.77;-1.53;-0.77;-0.77;-1.53|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Ankyrin repeat-containing domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69441|0.69441	0.3111|0.3111	L|L	0.52011|0.52011	1.625|1.625	0.46279|0.46279	D|D	0.998968|0.998968	B;P;P;P;D|.	0.67145|.	0.248;0.708;0.875;0.708;0.996|.	B;B;P;B;D|.	0.66847|.	0.112;0.227;0.46;0.227;0.947|.	T|T	0.66348|0.66348	-0.5946|-0.5946	10|5	0.21540|.	T|.	0.41|.	-14.3764|-14.3764	17.6563|17.6563	0.88179|0.88179	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	105;247;261;276;306|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078|.	.;.;.;.;CLPB_HUMAN|.	V|S	306;276;311;247;261;105;130|84	ENSP00000294053:A306V;ENSP00000441518:A276V;ENSP00000443822:A311V;ENSP00000340385:A247V;ENSP00000407296:A261V;ENSP00000439746:A105V;ENSP00000442651:A130V|.	ENSP00000294053:A306V|.	A|P	-|-	2|1	0|0	CLPB|CLPB	71718445|71718445	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.228000|0.228000	0.25075|0.25075	7.379000|7.379000	0.79691|0.79691	2.495000|2.495000	0.84180|0.84180	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.512	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813		3	49	0	0	0	1	0	3	49				
PPL	5493	broad.mit.edu	37	16	4933905	4933905	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr16:4933905G>A	ENST00000345988.2	-	22	4840	c.4751C>T	c.(4750-4752)tCg>tTg	p.S1584L	PPL_ENST00000590782.2_Missense_Mutation_p.S1582L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1584					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GTTGATTTCCGATTGGAGCCT	0.542																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(4750-4752)tCg>tTg		periplakin							122.0	120.0	121.0					16																	4933905		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4933905G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4751C>T	16.37:g.4933905G>A	ENSP00000340510:p.Ser1584Leu					PPL_ENST00000590782.2_Missense_Mutation_p.S1582L	p.S1584L	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	4840	-			1584					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.4751C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.017088	0.54576	.	.	ENSG00000118898	ENST00000345988	T	0.52983	0.64	5.83	5.83	0.93111	.	0.150032	0.46758	D	0.000266	T	0.49490	0.1560	M	0.65975	2.015	0.80722	D	1	P	0.48016	0.904	B	0.38428	0.273	T	0.55016	-0.8206	10	0.48119	T	0.1	.	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1584	O60437	PEPL_HUMAN	L	1584	ENSP00000340510:S1584L	ENSP00000340510:S1584L	S	-	2	0	PPL	4873906	0.998000	0.40836	0.721000	0.30653	0.670000	0.39368	7.848000	0.86902	2.769000	0.95229	0.655000	0.94253	TCG		0.542	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		11	110	0	0	0	1	0	11	110				
ASPHD1	253982	broad.mit.edu	37	16	29913067	29913067	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr16:29913067C>T	ENST00000308748.5	+	1	1027	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	ASPHD1_ENST00000483405.1_5'UTR|SEZ6L2_ENST00000308713.5_5'Flank|SEZ6L2_ENST00000350527.3_5'Flank|SEZ6L2_ENST00000537485.1_5'Flank|SEZ6L2_ENST00000346932.5_5'Flank	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	259					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)	dioxygenase activity (GO:0051213)			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CCAAGCAGGCCGGTGCCAACC	0.672																																						ENST00000308748.5																			0				endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						c.(775-777)Cgg>Tgg		aspartate beta-hydroxylase domain containing 1							17.0	19.0	18.0					16																	29913067		2185	4283	6468	SO:0001583	missense	253982				peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	g.chr16:29913067C>T	AF070642	CCDS10660.1	16p11.2	2008-02-05			ENSG00000174939	ENSG00000174939			27380	protein-coding gene	gene with protein product							Standard	NM_181718		Approved		uc002dut.3	Q5U4P2	OTTHUMG00000132121	ENST00000308748.5:c.775C>T	16.37:g.29913067C>T	ENSP00000311447:p.Arg259Trp					ASPHD1_ENST00000483405.1_5'UTR	p.R259W	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN			1	1027	+			259					A0AVE3|B7ZLZ3|Q8IW63|Q8N316|Q96H00	Missense_Mutation	SNP	ENST00000308748.5	37	c.775C>T	CCDS10660.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187022	0.78789	.	.	ENSG00000174939	ENST00000414952;ENST00000308748	T;T	0.46451	0.87;0.87	5.74	2.51	0.30379	.	0.280686	0.30151	N	0.010281	T	0.40791	0.1131	L	0.52126	1.63	0.33644	D	0.607568	D	0.71674	0.998	P	0.53185	0.72	T	0.54925	-0.8220	10	0.66056	D	0.02	-11.007	1.5232	0.02520	0.3234:0.3818:0.1313:0.1636	.	259	Q5U4P2	ASPH1_HUMAN	W	259	ENSP00000388036:R259W;ENSP00000311447:R259W	ENSP00000311447:R259W	R	+	1	2	ASPHD1	29820568	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.219000	0.17641	0.736000	0.32559	0.563000	0.77884	CGG		0.672	ASPHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255163.2	NM_181718		4	18	0	0	0	1	0	4	18				
FOSB	2354	broad.mit.edu	37	19	45974106	45974106	+	Missense_Mutation	SNP	G	G	A	rs143780767		TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr19:45974106G>A	ENST00000353609.3	+	2	938	c.346G>A	c.(346-348)Gga>Aga	p.G116R	FOSB_ENST00000590335.1_Missense_Mutation_p.G116R|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.G116R|FOSB_ENST00000585836.1_Missense_Mutation_p.G77R|FOSB_ENST00000591858.1_Missense_Mutation_p.G77R|FOSB_ENST00000586615.1_Missense_Mutation_p.G67R|FOSB_ENST00000417353.2_Missense_Mutation_p.G116R|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592811.1_Missense_Mutation_p.G67R	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	116					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CAGCAGTGGCGGAGCGAGTGG	0.701																																						ENST00000353609.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13						c.(346-348)Gga>Aga		FBJ murine osteosarcoma viral oncogene homolog B			ARG/GLY,ARG/GLY	0,4406		0,0,2203	60.0	70.0	67.0		346,346	3.6	1.0	19	dbSNP_134	67	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	FOSB	NM_001114171.1,NM_006732.2	125,125	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	116/303,116/339	45974106	1,13003	2203	4299	6502	SO:0001583	missense	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45974106G>A		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.346G>A	19.37:g.45974106G>A	ENSP00000245919:p.Gly116Arg					FOSB_ENST00000586615.1_Missense_Mutation_p.G67R|FOSB_ENST00000585836.1_Missense_Mutation_p.G77R|FOSB_ENST00000443841.2_Intron|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.G116R|FOSB_ENST00000592811.1_Missense_Mutation_p.G67R|FOSB_ENST00000590335.1_Missense_Mutation_p.G116R|FOSB_ENST00000417353.2_Missense_Mutation_p.G116R|FOSB_ENST00000591858.1_Missense_Mutation_p.G77R	p.G116R	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	2	938	+		Ovarian(192;0.051)|all_neural(266;0.112)	116					A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Missense_Mutation	SNP	ENST00000353609.3	37	c.346G>A	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.368611	0.61624	0.0	1.16E-4	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928	T;T	0.66638	-0.22;-0.22	3.63	3.63	0.41609	.	.	.	.	.	T	0.59473	0.2196	L	0.34521	1.04	0.29827	N	0.830355	B;P;B;B;P	0.51057	0.366;0.499;0.216;0.366;0.941	B;B;B;B;P	0.47402	0.023;0.032;0.032;0.023;0.546	T	0.54483	-0.8287	9	0.30078	T	0.28	-6.4218	11.0852	0.48082	0.0:0.0:1.0:0.0	.	77;77;116;116;116	A8VJF0;A8VJF3;E9PHJ3;P53539;A8VJE1	.;.;.;FOSB_HUMAN;.	R	116	ENSP00000245919:G116R;ENSP00000407207:G116R	ENSP00000245919:G116R	G	+	1	0	FOSB	50665946	0.009000	0.17119	0.975000	0.42487	0.993000	0.82548	0.766000	0.26560	2.335000	0.79485	0.561000	0.74099	GGA		0.701	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732		9	100	0	0	0	1	0	9	100				
ANGPTL7	10218	broad.mit.edu	37	1	11254545	11254545	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:11254545G>A	ENST00000376819.3	+	4	939	c.700G>A	c.(700-702)Gag>Aag	p.E234K	ANGPTL7_ENST00000476934.1_Intron|MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	234	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GCGCTACGCTGAGTATAGCCA	0.522																																						ENST00000376819.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10						c.(700-702)Gag>Aag		angiopoietin-like 7							176.0	158.0	164.0					1																	11254545		2203	4300	6503	SO:0001583	missense	10218				response to oxidative stress|signal transduction	extracellular region	receptor binding	g.chr1:11254545G>A	Y16132	CCDS128.1	1p36	2013-02-06			ENSG00000171819	ENSG00000171819		"""Fibrinogen C domain containing"""	24078	protein-coding gene	gene with protein product						9727400, 11682471	Standard	NM_021146		Approved	CDT6, AngX	uc001ase.4	O43827	OTTHUMG00000002002	ENST00000376819.3:c.700G>A	1.37:g.11254545G>A	ENSP00000366015:p.Glu234Lys					ANGPTL7_ENST00000476934.1_Intron|MTOR_ENST00000361445.4_Intron	p.E234K	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)	4	939	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	234			Fibrinogen C-terminal.		B2R9B2|F1T0A6|Q4ZGK4	Missense_Mutation	SNP	ENST00000376819.3	37	c.700G>A	CCDS128.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202589	0.79127	.	.	ENSG00000171819	ENST00000376819	T	0.76448	-1.02	5.67	4.7	0.59300	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.141105	0.64402	D	0.000008	T	0.67822	0.2934	L	0.33189	0.99	0.58432	D	0.999993	P	0.41475	0.751	B	0.40982	0.345	T	0.64141	-0.6477	10	0.12766	T	0.61	.	15.3149	0.74065	0.0:0.2202:0.7798:0.0	.	234	O43827	ANGL7_HUMAN	K	234	ENSP00000366015:E234K	ENSP00000366015:E234K	E	+	1	0	ANGPTL7	11177132	1.000000	0.71417	0.983000	0.44433	0.979000	0.70002	3.963000	0.56773	2.677000	0.91161	0.655000	0.94253	GAG		0.522	ANGPTL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005564.1	NM_021146		7	143	0	0	0	1	0	7	143				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	74	0	0	0	1	0	3	74				
KIAA2026	158358	broad.mit.edu	37	9	5968436	5968436	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr9:5968436T>A	ENST00000399933.3	-	3	1794	c.1795A>T	c.(1795-1797)Act>Tct	p.T599S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.T599S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	599										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCAAAGCCAGTAACTTCCCCT	0.363																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(1795-1797)Act>Tct		KIAA2026							103.0	100.0	101.0					9																	5968436		1812	4074	5886	SO:0001583	missense	158358							g.chr9:5968436T>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1795A>T	9.37:g.5968436T>A	ENSP00000382815:p.Thr599Ser					KIAA2026_ENST00000381461.2_Missense_Mutation_p.T599S	p.T599S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	1794	-		Acute lymphoblastic leukemia(23;0.158)	599					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.1795A>T		.	.	.	.	.	.	.	.	.	.	T	11.98	1.799221	0.31869	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.91464	-2.85;-2.85;-2.85	5.79	4.63	0.57726	.	0.414329	0.17851	U	0.159872	T	0.80314	0.4600	N	0.19112	0.55	0.22305	N	0.999214	B	0.15473	0.013	B	0.15484	0.013	T	0.65594	-0.6130	10	0.32370	T	0.25	.	3.1703	0.06550	0.184:0.1753:0.0:0.6408	.	599	Q5HYC2	K2026_HUMAN	S	599;599;532	ENSP00000382815:T599S;ENSP00000370870:T599S;ENSP00000444993:T532S	ENSP00000370870:T599S	T	-	1	0	KIAA2026	5958436	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.917000	0.28665	0.984000	0.38629	0.482000	0.46254	ACT		0.363	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		7	130	0	0	0	1	0	7	130				
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608		TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657																																						ENST00000375541.5																			11	Substitution - Missense(11)	p.A704T(11)	kidney(7)|endometrium(1)|prostate(1)|lung(1)|central_nervous_system(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2110-2112)Gcc>Acc		ciliary rootlet coiled-coil, rootletin							20.0	18.0	19.0					1																	17272075		2199	4291	6490	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272075G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2110G>A	1.37:g.17272075G>A	ENSP00000364691:p.Ala704Thr					CROCC_ENST00000467938.1_3'UTR	p.A704T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2179	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	704						Missense_Mutation	SNP	ENST00000375541.5	37	c.2110G>A	CCDS30616.1	202	0.0924908424908425	54	0.10975609756097561	27	0.07458563535911603	41	0.07167832167832168	80	0.10554089709762533	g	7.919	0.738064	0.15574	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10668	2.85	5.01	4.1	0.47936	.	.	.	.	.	T	0.00300	0.0009	L	0.47716	1.5	0.30387	N	0.781339	D;P;P	0.57899	0.981;0.952;0.873	P;P;B	0.52554	0.702;0.579;0.439	T	0.02477	-1.1153	9	0.16420	T	0.52	.	13.1749	0.59621	0.0795:0.0:0.9205:0.0	rs2781608;rs3871256;rs3872330	567;7;704	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	T	704;585	ENSP00000364691:A704T	ENSP00000364691:A704T	A	+	1	0	CROCC	17144662	0.999000	0.42202	0.970000	0.41538	0.013000	0.08279	2.720000	0.47252	1.448000	0.47680	-0.215000	0.12644	GCC		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		3	27	0	0	0	1	0	3	27				
ATF7IP2	80063	broad.mit.edu	37	16	10532037	10532037	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr16:10532037G>A	ENST00000396560.2	+	5	1267	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						TTGAACCAACGCATTGGGAAG	0.333																																						ENST00000396560.2																			0				large_intestine(3)	3						c.(1039-1041)cGc>cAc		activating transcription factor 7 interacting protein 2							138.0	136.0	137.0					16																	10532037		2197	4300	6497	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10532037G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1040G>A	16.37:g.10532037G>A	ENSP00000379808:p.Arg347His					ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R347H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R347H|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R347H	p.R347H	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN			5	1267	+			347					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1040G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340217	0.81911	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.55	5.55	0.83447	.	0.213702	0.33534	N	0.004814	T	0.61223	0.2330	L	0.58101	1.795	0.41635	D	0.989044	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.842	T	0.63646	-0.6590	10	0.87932	D	0	-0.259	15.0123	0.71557	0.0:0.0:1.0:0.0	.	347;347	Q5U623-2;Q5U623	.;MCAF2_HUMAN	H	347	ENSP00000379807:R347H;ENSP00000379808:R347H;ENSP00000440791:R347H;ENSP00000348799:R347H;ENSP00000322811:R347H	ENSP00000322811:R347H	R	+	2	0	ATF7IP2	10439538	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.735000	0.62051	2.602000	0.87976	0.650000	0.86243	CGC		0.333	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997		10	106	0	0	0	1	0	10	106				
SYNPO2L	79933	broad.mit.edu	37	10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)		p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577																																						ENST00000394810.2																			3	Substitution - Missense(3)	p.R627W(2)|p.R851W(1)	kidney(2)|large_intestine(1)	breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2551-2553)Cgg>Tgg		synaptopodin 2-like							59.0	70.0	66.0					10																	75406859		2201	4296	6497	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75406859G>A	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.2551C>T	10.37:g.75406859G>A	ENSP00000378289:p.Arg851Trp					SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	p.R851W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN			4	2700	-	Prostate(51;0.0112)		851			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.2551C>T	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172756	0.57584	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27720	1.65;1.98	5.08	3.02	0.34903	.	0.122449	0.53938	D	0.000053	T	0.49966	0.1588	L	0.59436	1.845	0.36226	D	0.852342	D;D	0.89917	1.0;1.0	D;D	0.72625	0.952;0.978	T	0.64210	-0.6461	10	0.72032	D	0.01	-15.751	14.6607	0.68868	0.0:0.0:0.653:0.347	.	851;627	Q9H987;Q9H987-2	SYP2L_HUMAN;.	W	627;851	ENSP00000361964:R627W;ENSP00000378289:R851W	ENSP00000361964:R627W	R	-	1	2	SYNPO2L	75076865	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	1.600000	0.36762	1.302000	0.44855	0.561000	0.74099	CGG		0.577	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	NM_024875		5	113	0	0	0	1	0	5	113				
DDX43	55510	broad.mit.edu	37	6	74115421	74115421	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr6:74115421A>T	ENST00000370336.4	+	6	828	c.670A>T	c.(670-672)Acg>Tcg	p.T224S	DDX43_ENST00000539829.1_Nonstop_Mutation_p.*196Y	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	224					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTTTAATATAACGTGGGATGA	0.398																																						ENST00000539829.1																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(586-588)taA>taT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							86.0	85.0	85.0					6																	74115421		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74115421A>T		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.670A>T	6.37:g.74115421A>T	ENSP00000359361:p.Thr224Ser					DDX43_ENST00000370336.4_Missense_Mutation_p.T224S	p.*196Y			Q9NXZ2	DDX43_HUMAN			5	641	+			0					B4E0C8|Q6NXR1	Nonstop_Mutation	SNP	ENST00000370336.4	37	c.588A>T	CCDS4977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.555|7.555	0.663601|0.663601	0.14710|0.14710	.|.	.|.	ENSG00000080007|ENSG00000080007	ENST00000370336|ENST00000539829	T|.	0.15718|.	2.4|.	5.18|5.18	4.01|4.01	0.46588|0.46588	.|.	0.410761|.	0.28760|.	N|.	0.014230|.	T|.	0.27663|.	0.0680|.	L|L	0.55213|0.55213	1.73|1.73	0.09310|0.09310	N|N	1|1	B|.	0.12013|.	0.005|.	B|.	0.08055|.	0.003|.	T|.	0.14755|.	-1.0461|.	10|.	0.44086|.	T|.	0.13|.	-0.8536|-0.8536	10.2142|10.2142	0.43158|0.43158	0.9193:0.0:0.0807:0.0|0.9193:0.0:0.0807:0.0	.|.	224|.	Q9NXZ2|.	DDX43_HUMAN|.	S|Y	224|196	ENSP00000359361:T224S|.	ENSP00000359361:T224S|.	T|X	+|+	1|3	0|2	DDX43|DDX43	74172142|74172142	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.508000|0.508000	0.34012|0.34012	3.641000|3.641000	0.54360|0.54360	0.920000|0.920000	0.36970|0.36970	0.460000|0.460000	0.39030|0.39030	ACG|TAA		0.398	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		5	56	0	0	0	1	0	5	56				
VWA3B	200403	broad.mit.edu	37	2	98736173	98736173	+	Silent	SNP	A	A	G			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr2:98736173A>G	ENST00000477737.1	+	4	693	c.489A>G	c.(487-489)ctA>ctG	p.L163L	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.L163L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	163										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGAGGCTCTAACAATGGTTC	0.483																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(487-489)ctA>ctG		von Willebrand factor A domain containing 3B							171.0	166.0	168.0					2																	98736173		1956	4146	6102	SO:0001819	synonymous_variant	200403							g.chr2:98736173A>G	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.489A>G	2.37:g.98736173A>G						VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.L163L	p.L163L	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			4	693	+			163					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.489A>G	CCDS42718.1																																																																																				0.483	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		12	176	0	0	0	1	0	12	176				
RP11-156P1.2	0	broad.mit.edu	37	17	45126660	45126660	+	IGR	SNP	C	C	T			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr17:45126660C>T	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							GACTGTTGAGCCGGAGGAGCC	0.488																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45126660C>T																													17.37:g.45126660C>T														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.488	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			15	165	0	0	0	1	0	15	165				
ACOT12	134526	broad.mit.edu	37	5	80638492	80638492	+	Splice_Site	SNP	T	T	C			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr5:80638492T>C	ENST00000307624.3	-	11	1155	c.1127A>G	c.(1126-1128)aAg>aGg	p.K376R	ACOT12_ENST00000508234.1_Intron	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	376	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTGTCCTACCTTTTCCACAGT	0.468																																						ENST00000307624.3																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.e11+1		acyl-CoA thioesterase 12							155.0	139.0	144.0					5																	80638492		2203	4300	6503	SO:0001630	splice_region_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80638492T>C	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1128+1A>G	5.37:g.80638492T>C						ACOT12_ENST00000508234.1_Intron	p.K376_splice	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	11	1155	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	376			START.		B3KVK9|Q5FWE9	Splice_Site	SNP	ENST00000307624.3	37	c.1128_splice	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748462	0.30955	.	.	ENSG00000172497	ENST00000307624	T	0.30182	1.54	5.24	5.24	0.73138	Lipid-binding START (2);START-like domain (1);	0.117198	0.56097	D	0.000031	T	0.34019	0.0883	M	0.67953	2.075	0.80722	D	1	B	0.25105	0.118	B	0.27715	0.082	T	0.12268	-1.0554	10	0.40728	T	0.16	0.0768	12.6848	0.56942	0.0:0.0:0.0:1.0	.	376	Q8WYK0	ACO12_HUMAN	R	376	ENSP00000303246:K376R	ENSP00000303246:K376R	K	-	2	0	ACOT12	80674248	1.000000	0.71417	0.986000	0.45419	0.179000	0.23085	5.534000	0.67167	1.992000	0.58205	0.533000	0.62120	AAG		0.468	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	Missense_Mutation	10	115	0	0	0	1	0	10	115				
PCNT	5116	broad.mit.edu	37	21	47754580	47754580	+	Silent	SNP	G	G	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr21:47754580G>A	ENST00000359568.5	+	3	644	c.537G>A	c.(535-537)ccG>ccA	p.P179P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	179					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P179P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCAACCGGAACAGCGTG	0.537																																						ENST00000359568.5																			1	Substitution - coding silent(1)	p.P179P(1)	endometrium(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(535-537)ccG>ccA		pericentrin							203.0	139.0	160.0					21																	47754580		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754580G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.537G>A	21.37:g.47754580G>A						PCNT_ENST00000480896.1_3'UTR	p.P179P	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	644	+	Breast(49;0.112)		179					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.537G>A	CCDS33592.1																																																																																				0.537	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		4	65	0	0	0	1	0	4	65				
SRSF9	8683	broad.mit.edu	37	12	120897761	120897761	+	IGR	SNP	G	G	C			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr12:120897761G>C	ENST00000229390.3	-	0	1201				AL021546.6_ENST00000551806.1_Nonstop_Mutation_p.*168L|GATC_ENST00000551765.1_Nonstop_Mutation_p.*137S	NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						CCACACAGCTGAGTAGCTCAT	0.368																																						ENST00000551765.1																			0				breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						c.(409-411)tGa>tCa		glutamyl-tRNA(Gln) amidotransferase, subunit C							91.0	86.0	88.0					12																	120897761		2203	4300	6503	SO:0001628	intergenic_variant	283459				regulation of translational fidelity			g.chr12:120897761G>C	U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790		12.37:g.120897761G>C						AL021546.6_ENST00000551806.1_Nonstop_Mutation_p.*168L	p.*137S	NM_176818.2	NP_789788.1	O43716	GATCL_HUMAN			4	453	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		0					Q52LD1	Nonstop_Mutation	SNP	ENST00000229390.3	37	c.410G>C	CCDS9199.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250768	0.59212	.	.	ENSG00000257218	ENST00000551765	.	.	.	5.11	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3699	0.21475	0.0918:0.0:0.7271:0.1811	.	.	.	.	S	137	.	.	X	+	2	2	AL021546.1	119382144	0.616000	0.27035	0.057000	0.19452	0.686000	0.39977	0.843000	0.27640	0.841000	0.35020	0.655000	0.94253	TGA		0.368	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2	NM_003769		5	58	0	0	0	1	0	5	58				
C11orf74	119710	broad.mit.edu	37	11	36680674	36680674	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:36680674G>C	ENST00000334307.5	+	6	719	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	C11orf74_ENST00000534635.1_Missense_Mutation_p.E128Q|C11orf74_ENST00000347206.4_Missense_Mutation_p.E128Q|C11orf74_ENST00000446510.2_Intron	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN	chromosome 11 open reading frame 74	202										breast(1)|kidney(1)|large_intestine(1)|lung(5)	8	all_lung(20;0.226)	all_hematologic(20;0.0118)				GAACATCAAAGAGCTATGCAA	0.393																																						ENST00000334307.5																			0				breast(1)|kidney(1)|large_intestine(1)|lung(5)	8						c.(604-606)Gag>Cag		chromosome 11 open reading frame 74							116.0	111.0	112.0					11																	36680674		2202	4298	6500	SO:0001583	missense	119710							g.chr11:36680674G>C	AK095997, BC009561	CCDS7904.1, CCDS60762.1	11p12	2012-08-10			ENSG00000166352	ENSG00000166352			25142	protein-coding gene	gene with protein product						12477932	Standard	NM_001276722		Approved	FLJ38678, HEPIS	uc031pzr.1	Q86VG3	OTTHUMG00000166397	ENST00000334307.5:c.604G>C	11.37:g.36680674G>C	ENSP00000334848:p.Glu202Gln					C11orf74_ENST00000534635.1_Missense_Mutation_p.E128Q|C11orf74_ENST00000347206.4_Missense_Mutation_p.E128Q|C11orf74_ENST00000446510.2_Intron	p.E202Q	NM_138787.2	NP_620142.2	Q86VG3	CK074_HUMAN			6	719	+	all_lung(20;0.226)	all_hematologic(20;0.0118)	202					D3DR18|Q96DD6	Missense_Mutation	SNP	ENST00000334307.5	37	c.604G>C	CCDS7904.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587557	0.66105	.	.	ENSG00000166352	ENST00000334307;ENST00000347206;ENST00000534635	.	.	.	5.68	4.75	0.60458	.	0.087864	0.48767	D	0.000161	T	0.77519	0.4142	M	0.74881	2.28	0.42139	D	0.991507	D;D	0.89917	1.0;1.0	D;D	0.70716	0.97;0.97	T	0.79240	-0.1885	8	.	.	.	-10.3408	14.8458	0.70259	0.0:0.1433:0.8567:0.0	.	202;128	Q86VG3;Q86VG3-2	CK074_HUMAN;.	Q	202;128;128	.	.	E	+	1	0	C11orf74	36637250	0.110000	0.22057	0.112000	0.21494	0.040000	0.13550	0.964000	0.29306	1.376000	0.46267	0.650000	0.86243	GAG		0.393	C11orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389567.1	NM_138787		4	75	0	0	0	1	0	4	75				
LAT	27040	broad.mit.edu	37	16	28997053	28997053	+	Silent	SNP	C	C	G			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr16:28997053C>G	ENST00000360872.5	+	2	198	c.120C>G	c.(118-120)tcC>tcG	p.S40S	LAT_ENST00000395456.2_Silent_p.S40S|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000566177.1_Silent_p.S40S|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000354453.4_Silent_p.S40S|LAT_ENST00000395461.3_Silent_p.S76S|LAT_ENST00000454369.2_Silent_p.S40S|LAT_ENST00000564277.1_Silent_p.S40S			O43561	LAT_HUMAN	linker for activation of T cells	40					blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|gene expression (GO:0010467)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|lymphocyte homeostasis (GO:0002260)|mast cell degranulation (GO:0043303)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|regulation of T cell activation (GO:0050863)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				ACAGCACATCCTCAGATAGGT	0.657																																						ENST00000395456.2																			0				large_intestine(2)|lung(3)|urinary_tract(1)	6						c.(118-120)tcC>tcG		linker for activation of T cells							127.0	143.0	138.0					16																	28997053		2197	4300	6497	SO:0001819	synonymous_variant	0				calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity	g.chr16:28997053C>G	AF036905	CCDS10647.1, CCDS32425.1, CCDS45455.1, CCDS53999.1	16q13	2011-11-01			ENSG00000213658	ENSG00000213658			18874	protein-coding gene	gene with protein product	"""linker for activation of T cells, transmembrane adaptor"""	602354				9489702	Standard	NM_014387		Approved	LAT1	uc010vdj.2	O43561	OTTHUMG00000131761	ENST00000360872.5:c.120C>G	16.37:g.28997053C>G						LAT_ENST00000395461.3_Silent_p.S76S|LAT_ENST00000360872.5_Silent_p.S40S|LAT_ENST00000354453.4_Silent_p.S40S|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000454369.2_Silent_p.S40S|LAT_ENST00000564277.1_Silent_p.S40S|LAT_ENST00000566177.1_Silent_p.S40S|RP11-264B17.3_ENST00000569969.1_RNA	p.S40S	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN			2	442	+		Hepatocellular(780;0.244)	40					B7WPI0|C7C5T6|G5E9K3|O43919	Silent	SNP	ENST00000360872.5	37	c.120C>G	CCDS10647.1																																																																																				0.657	LAT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254688.2			12	212	0	0	0	1	0	12	212				
PDGFRB	5159	broad.mit.edu	37	5	149502718	149502718	+	Silent	SNP	C	C	T			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr5:149502718C>T	ENST00000261799.4	-	15	2539	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	690	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGTAGTCCACCAGGTCTC	0.622			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	ENST00000261799.4				Dom	yes		5	5q31-q32	5159	T	"""platelet-derived growth factor receptor, beta polypeptide"""			L	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""		"""MPD, AML, CMML, CML"""		0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75						c.(2068-2070)gtG>gtA		platelet-derived growth factor receptor, beta polypeptide	Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						148.0	125.0	132.0					5																	149502718		2203	4300	6503	SO:0001819	synonymous_variant	5159				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	g.chr5:149502718C>T	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2070G>A	5.37:g.149502718C>T							p.V690V	NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	2539	-		all_hematologic(541;0.224)	690			Protein kinase.		B5A957|Q8N5L4	Silent	SNP	ENST00000261799.4	37	c.2070G>A	CCDS4303.1																																																																																				0.622	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609		5	71	0	0	0	1	0	5	71				
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							155.0	134.0	140.0					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu					ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	225	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	151			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		3	64	0	0	0	1	0	3	64				
OR2B11	127623	broad.mit.edu	37	1	247614554	247614554	+	Missense_Mutation	SNP	G	G	A	rs141064927		TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:247614554G>A	ENST00000318749.6	-	1	754	c.731C>T	c.(730-732)aCg>aTg	p.T244M		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGAGGAACACGTCCCAAAGGC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		19693	0.001		0.0	False		,,,				2504	0.0					ENST00000318749.6																			0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(730-732)aCg>aTg		olfactory receptor, family 2, subfamily B, member 11							135.0	131.0	133.0					1																	247614554		2203	4300	6503	SO:0001583	missense	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614554G>A		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.731C>T	1.37:g.247614554G>A	ENSP00000325682:p.Thr244Met						p.T244M	NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	754	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	244					B2RP03	Missense_Mutation	SNP	ENST00000318749.6	37	c.731C>T	CCDS31090.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	20.7	4.039037	0.75617	.	.	ENSG00000177535	ENST00000318749	T	0.42513	0.97	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000034	T	0.75642	0.3877	H	0.96365	3.81	0.48975	D	0.999737	D	0.89917	1.0	D	0.97110	1.0	T	0.83341	-0.0008	10	0.87932	D	0	.	16.3978	0.83621	0.0:0.0:1.0:0.0	.	244	Q5JQS5	OR2BB_HUMAN	M	244	ENSP00000325682:T244M	ENSP00000325682:T244M	T	-	2	0	OR2B11	245681177	1.000000	0.71417	0.767000	0.31495	0.771000	0.43674	8.467000	0.90390	2.817000	0.96982	0.643000	0.83706	ACG		0.552	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	NM_001004492		8	85	0	0	0	1	0	8	85				
PGS1	9489	broad.mit.edu	37	17	76394348	76394348	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr17:76394348A>G	ENST00000262764.6	+	4	453	c.427A>G	c.(427-429)Agt>Ggt	p.S143G	PGS1_ENST00000329897.7_Missense_Mutation_p.S8G|SNORA30_ENST00000363193.1_RNA	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	143					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CTGCCTGGAAAGTACTCTAGA	0.448																																					Esophageal Squamous(45;182 1126 10685 43198)	ENST00000262764.6																			0				cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(427-429)Agt>Ggt		phosphatidylglycerophosphate synthase 1							179.0	190.0	187.0					17																	76394348		1888	4108	5996	SO:0001583	missense	9489				phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity	g.chr17:76394348A>G		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.427A>G	17.37:g.76394348A>G	ENSP00000262764:p.Ser143Gly					PGS1_ENST00000329897.7_Missense_Mutation_p.S8G	p.S143G	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)		4	453	+			143					B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.427A>G	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.628719	0.28978	.	.	ENSG00000087157	ENST00000262764;ENST00000329897;ENST00000335081	T	0.22336	1.96	5.56	4.48	0.54585	.	0.307372	0.34750	N	0.003703	T	0.13628	0.0330	N	0.25890	0.77	0.26426	N	0.976013	B	0.26775	0.159	B	0.24848	0.056	T	0.18366	-1.0339	10	0.33141	T	0.24	-17.3916	7.9024	0.29742	0.8259:0.0:0.1741:0.0	.	143	Q32NB8	PGPS1_HUMAN	G	143;8;8	ENSP00000262764:S143G	ENSP00000262764:S143G	S	+	1	0	PGS1	73905943	1.000000	0.71417	0.999000	0.59377	0.619000	0.37552	2.772000	0.47678	0.931000	0.37242	0.533000	0.62120	AGT		0.448	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		14	205	0	0	0	1	0	14	205				
SLC35C1	55343	broad.mit.edu	37	11	45827881	45827881	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr11:45827881A>G	ENST00000314134.3	+	1	1925	c.529A>G	c.(529-531)Atc>Gtc	p.I177V	SLC35C1_ENST00000442528.2_Missense_Mutation_p.I164V|SLC35C1_ENST00000456334.1_Missense_Mutation_p.I164V	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	177					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CTGCGGTATCATCATCGGTGA	0.567																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(529-531)Atc>Gtc		solute carrier family 35 (GDP-fucose transporter), member C1							49.0	37.0	41.0					11																	45827881		2203	4299	6502	SO:0001583	missense	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827881A>G		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.529A>G	11.37:g.45827881A>G	ENSP00000313318:p.Ile177Val					SLC35C1_ENST00000456334.1_Missense_Mutation_p.I164V|SLC35C1_ENST00000442528.2_Missense_Mutation_p.I164V	p.I177V	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	1	1925	+			177					B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	ENST00000314134.3	37	c.529A>G	CCDS7914.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.454132	0.63290	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000530471;ENST00000540685	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	4.71	4.71	0.59529	Drug/metabolite transporter (1);	0.000000	0.85682	D	0.000000	T	0.62245	0.2412	L	0.38175	1.15	0.80722	D	1	B	0.25772	0.134	B	0.28916	0.096	T	0.59156	-0.7507	10	0.30854	T	0.27	-46.7302	14.2081	0.65748	1.0:0.0:0.0:0.0	.	177	Q96A29	FUCT1_HUMAN	V	164;164;98;177;164;177	ENSP00000412408:I164V;ENSP00000399779:I164V;ENSP00000313318:I177V;ENSP00000432669:I164V	ENSP00000313318:I177V	I	+	1	0	SLC35C1	45784457	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	7.455000	0.80726	1.767000	0.52121	0.460000	0.39030	ATC		0.567	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		4	26	0	0	0	1	0	4	26				
SI	6476	broad.mit.edu	37	3	164724640	164724640	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr3:164724640T>C	ENST00000264382.3	-	37	4432	c.4370A>G	c.(4369-4371)aAt>aGt	p.N1457S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1457	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCATAGAGATTGTGAACATC	0.353										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(4369-4371)aAt>aGt		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						131.0	118.0	122.0					3																	164724640		2202	4300	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164724640T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4370A>G	3.37:g.164724640T>C	ENSP00000264382:p.Asn1457Ser	HNSCC(35;0.089)					p.N1457S	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			37	4432	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1457			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4370A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	5.952	0.359686	0.11239	.	.	ENSG00000090402	ENST00000264382	D	0.93859	-3.3	5.62	4.44	0.53790	Glycoside hydrolase, superfamily (1);	0.136685	0.53938	D	0.000055	D	0.87120	0.6098	L	0.43701	1.375	0.36985	D	0.894492	B	0.17268	0.021	B	0.21546	0.035	T	0.78478	-0.2188	10	0.02654	T	1	.	8.4985	0.33144	0.0:0.1545:0.0:0.8455	.	1457	P14410	SUIS_HUMAN	S	1457	ENSP00000264382:N1457S	ENSP00000264382:N1457S	N	-	2	0	SI	166207334	1.000000	0.71417	0.978000	0.43139	0.742000	0.42306	0.556000	0.23438	2.139000	0.66308	0.397000	0.26171	AAT		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		3	49	0	0	0	1	0	3	49				
ADAMTS17	170691	broad.mit.edu	37	15	100537662	100537662	+	Silent	SNP	G	G	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr15:100537662G>A	ENST00000268070.4	-	19	2829	c.2724C>T	c.(2722-2724)ccC>ccT	p.P908P		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	908	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ccgccggccgggggcccgggc	0.672																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2722-2724)ccC>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							26.0	29.0	28.0					15																	100537662		2202	4299	6501	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100537662G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2724C>T	15.37:g.100537662G>A							p.P908P	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	19	2829	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		908			TSP type-1 3.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2724C>T	CCDS10383.1																																																																																				0.672	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		3	27	0	0	0	1	0	3	27				
MGAM	8972	broad.mit.edu	37	7	141767225	141767225	+	Intron	SNP	C	C	T	rs7778384	byFrequency	TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr7:141767225C>T	ENST00000549489.2	+	38	4713				MGAM_ENST00000475668.2_Splice_Site_p.R1668R	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592													c|||	29	0.00579073	0.0121	0.0086	5008	,	,		14537	0.001		0.004	False		,,,				2504	0.002					ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.e42+1		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						68.0	55.0	59.0					7																	141767225		874	1947	2821	SO:0001627	intron_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141767225C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4618+1957C>T	7.37:g.141767225C>T						MGAM_ENST00000549489.2_Intron	p.R1668_splice			O43451	MGA_HUMAN			42	5058	+	Melanoma(164;0.0272)		1668			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Splice_Site	SNP	ENST00000549489.2	37	c.5004_splice	CCDS47727.1																																																																																				0.592	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			3	41	0	0	0	1	0	3	41				
PHF13	148479	broad.mit.edu	37	1	6680069	6680071	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:6680069_6680071delGAA	ENST00000377648.4	+	3	730_732	c.348_350delGAA	c.(346-351)ctgaag>ctg	p.K121del	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	121					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		cggacaagctgaagaagaagaag	0.576																																						ENST00000377648.4																			0				endometrium(3)|large_intestine(1)|lung(3)	7						c.(346-351)ctg>ct		PHD finger protein 13				54,4212		2,50,2081						5.5	1.0			49	96,8154		1,94,4030	no	coding	PHF13	NM_153812.2		3,144,6111	A1A1,A1R,RR		1.1636,1.2658,1.1985				150,12366				SO:0001651	inframe_deletion	148479				cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding	g.chr1:6680069_6680071delGAA	AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.348_350delGAA	1.37:g.6680078_6680080delGAA	ENSP00000366876:p.Lys121del					PHF13_ENST00000495385.1_Intron	p.LK116del	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)	3	730_732	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	116					B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	In_Frame_Del	DEL	ENST00000377648.4	37	c.348_350delGAA	CCDS85.1																																																																																				0.576	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004201.1	NM_153812		7	95						7	95	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	50	0	0	0	1	0	4	50				
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr1:154245864_154245866delGAA	ENST00000328703.7	+	2	319_321	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria. {ECO:0000250}.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(106-108)del		HCLS1 associated protein X-1			,	145,4121		1,143,1989					,	-10.8	0.2			60	303,7951		0,303,3824	no	coding,intron	HAX1	NM_006118.3,NM_001018837.1	,	1,446,5813	A1A1,A1R,RR		3.6709,3.399,3.5783	,	,		448,12072				SO:0001651	inframe_deletion	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154245864_154245866delGAA	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.106_108delGAA	1.37:g.154245873_154245875delGAA	ENSP00000329002:p.Glu40del					HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del|HAX1_ENST00000457918.2_Intron	p.E40del	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	319_321	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		40			Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	In_Frame_Del	DEL	ENST00000328703.7	37	c.106_108delGAA	CCDS1064.1																																																																																				0.522	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		8	86						8	86	---	---	---	---
RP11-556I14.1	0	broad.mit.edu	37	4	105918245	105918246	+	lincRNA	DEL	CC	CC	-	rs145057012|rs10622810|rs59209644|rs60637656		TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr4:105918245_105918246delCC	ENST00000506386.1	+	0	71																											ctttttttttcctttttttttt	0.312																																						ENST00000506386.1																			0																																																			0							g.chr4:105918245_105918246delCC																													4.37:g.105918245_105918246delCC														0	71	+									RNA	DEL	ENST00000506386.1	37																																																																																						0.312	RP11-556I14.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000363584.1			4	4						4	4	---	---	---	---
BOD1	91272	broad.mit.edu	37	5	173043417	173043419	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chr5:173043417_173043419delCCG	ENST00000311086.4	-	1	244_246	c.21_23delCGG	c.(19-24)ggcggg>ggg	p.7_8GG>G	BOD1_ENST00000480951.1_In_Frame_Del_p.7_8GG>G|BOD1_ENST00000285908.5_In_Frame_Del_p.7_8GG>G|BOD1_ENST00000471339.1_5'UTR	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	7	Gly-rich.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						GCCAGTTCCCCCGCCGCCGCCGC	0.714																																						ENST00000311086.4																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						c.(19-24)ggg>gg		biorientation of chromosomes in cell division 1			,	8,1556		0,8,774					,	-0.1	0.0			4	25,3659		1,23,1818	no	coding,coding	BOD1	NM_138369.2,NM_001159651.1	,	1,31,2592	A1A1,A1R,RR		0.6786,0.5115,0.6288	,	,		33,5215				SO:0001651	inframe_deletion	91272				cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center		g.chr5:173043417_173043419delCCG	AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"""biorientation defective 1"""		"""family with sequence similarity 44, member B"""	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.21_23delCGG	5.37:g.173043426_173043428delCCG	ENSP00000309644:p.Gly9del					BOD1_ENST00000480951.1_In_Frame_Del_p.GG7del|BOD1_ENST00000471339.1_5'UTR|BOD1_ENST00000285908.5_In_Frame_Del_p.GG7del	p.GG7del	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN			1	244_246	-			7			Gly-rich.		B4DXH8|Q9BTW1	In_Frame_Del	DEL	ENST00000311086.4	37	c.21_23delCGG	CCDS4389.1																																																																																				0.714	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252963.1	NM_138369		2	4						2	4	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70465642	70465642	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chrX:70465642delA	ENST00000353904.2	-	17	2923	c.2736delT	c.(2734-2736)attfs	p.I912fs	ZMYM3_ENST00000373998.1_Frame_Shift_Del_p.I900fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.I912fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.I914fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.I914fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	912					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGGTCTCTACAATCTTGTCTG	0.532																																						ENST00000373998.1																			0				breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(2698-2700)atfs		zinc finger, MYM-type 3							139.0	104.0	116.0					X																	70465642		2203	4300	6503	SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70465642delA	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.2736delT	X.37:g.70465642delA	ENSP00000343909:p.Ile912fs					ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.I912fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.I914fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.I914fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.I912fs	p.I900fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			17	3397	-	Renal(35;0.156)		912					D3DVV3|O15089|Q96E26	Frame_Shift_Del	DEL	ENST00000353904.2	37	c.2700delT	CCDS14409.1																																																																																				0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		8	26						8	26	---	---	---	---
AMOT	154796	broad.mit.edu	37	X	112022477	112022479	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-KK-A7B2-01A-12D-A32B-08	TCGA-KK-A7B2-11A-11D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	323679ff-5644-4826-9486-a60ba6b0431f	cf3e0850-c21c-4739-8085-7e278dded3cc	g.chrX:112022477_112022479delCAG	ENST00000524145.1	-	11	2977_2979	c.2903_2905delCTG	c.(2902-2907)gctgtt>gtt	p.A968del	AMOT_ENST00000371959.3_In_Frame_Del_p.A968del|AMOT_ENST00000304758.1_In_Frame_Del_p.A559del|AMOT_ENST00000371962.1_In_Frame_Del_p.A736del|MIR4329_ENST00000582643.1_RNA			Q4VCS5	AMOT_HUMAN	angiomotin	968					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCAACCTGAAcagcagcagcagc	0.616																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2902-2907)gtt>g		angiomotin			,	74,3566		3,51,17,1518,479					,	2.9	1.0			18	171,6163		0,105,66,2221,1616	no	coding,coding	AMOT	NM_133265.2,NM_001113490.1	,	3,156,83,3739,2095	A1A1,A1R,A1,RR,R		2.6997,2.033,2.4564	,	,		245,9729				SO:0001651	inframe_deletion	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022477_112022479delCAG	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2903_2905delCTG	X.37:g.112022486_112022488delCAG	ENSP00000429013:p.Ala968del					AMOT_ENST00000524145.1_In_Frame_Del_p.AV968del|AMOT_ENST00000304758.1_In_Frame_Del_p.AV559del|AMOT_ENST00000371962.1_In_Frame_Del_p.AV736del	p.AV968del	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			10	2902_2904	-			968					Q504X5|Q9HD27|Q9UPT1	In_Frame_Del	DEL	ENST00000524145.1	37	c.2903_2905delCTG	CCDS48154.1																																																																																				0.616	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		2	4						2	4	---	---	---	---
