#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs199538020	byFrequency	TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:102292770C>T	ENST00000561463.1	+	0	816									DNM1 pseudogene 47																		AGCGGCGCGACGAGATGCTGC	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292770C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	20	0	0	0	1	0	3	20				
CHST4	10164	broad.mit.edu	37	16	71571118	71571118	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:71571118C>T	ENST00000338482.5	+	3	881	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.R180C|CHST4_ENST00000572450.1_Missense_Mutation_p.R180C			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	180					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.R180C(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CAAGGAGGTGCGCTTCTTCAA	0.637																																						ENST00000338482.5																			1	Substitution - Missense(1)	p.R180C(1)	large_intestine(1)	cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(538-540)Cgc>Tgc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							87.0	87.0	87.0					16																	71571118		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571118C>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.538C>T	16.37:g.71571118C>T	ENSP00000341206:p.Arg180Cys		Somatic				ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R180C|CHST4_ENST00000539698.3_Missense_Mutation_p.R180C	p.R180C			WXS	Illumina GAIIx	Phase_I	Q8NCG5	CHST4_HUMAN			3	881	+			180					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.538C>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410209	0.83340	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.84730	-1.89;-1.89	5.8	5.8	0.92144	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94725	0.8298	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95673	0.8725	10	0.87932	D	0	-3.2798	17.5569	0.87894	0.0:1.0:0.0:0.0	.	180	Q8NCG5	CHST4_HUMAN	C	180	ENSP00000341206:R180C;ENSP00000441204:R180C	ENSP00000341206:R180C	R	+	1	0	CHST4	70128619	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.915000	0.56409	2.735000	0.93741	0.655000	0.94253	CGC		0.637	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		7	18	0	0	0	1	0	7	18				
SNTG2	54221	broad.mit.edu	37	2	1263147	1263147	+	Silent	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr2:1263147C>T	ENST00000308624.5	+	13	1140	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	SNTG2_ENST00000407292.1_Silent_p.S210S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	337	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCAGGTGAGCACATTCGATT	0.403																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1009-1011)agC>agT		syntrophin, gamma 2							116.0	109.0	111.0					2																	1263147		1880	4128	6008	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1263147C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1011C>T	2.37:g.1263147C>T			Somatic				SNTG2_ENST00000407292.1_Silent_p.S210S	p.S337S	NM_018968.3	NP_061841.2	WXS	Illumina GAIIx	Phase_I	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1140	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	337			PH.		Q05AH5	Silent	SNP	ENST00000308624.5	37	c.1011C>T	CCDS46220.1																																																																																				0.403	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		8	33	0	0	0	1	0	8	33				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		15	42	0	0	0	1	0	15	42				
PRRG4	79056	broad.mit.edu	37	11	32858271	32858271	+	Silent	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr11:32858271G>A	ENST00000257836.3	+	3	424	c.171G>A	c.(169-171)ctG>ctA	p.L57L		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	57	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					GATTTGATCTGGAGCTCTTCA	0.348																																						ENST00000257836.3																			0				large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7						c.(169-171)ctG>ctA		proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)							59.0	61.0	61.0					11																	32858271		2202	4299	6501	SO:0001819	synonymous_variant	79056					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding	g.chr11:32858271G>A	AF326351	CCDS7881.1	11p13	2008-02-05			ENSG00000135378	ENSG00000135378			30799	protein-coding gene	gene with protein product		611690				11171957	Standard	NM_024081		Approved	TMG4	uc001mtx.3	Q9BZD6	OTTHUMG00000166219	ENST00000257836.3:c.171G>A	11.37:g.32858271G>A			Somatic					p.L57L	NM_024081.5	NP_076986.1	WXS	Illumina GAIIx	Phase_I	Q9BZD6	TMG4_HUMAN			3	424	+	Breast(20;0.206)		57			Gla.			Silent	SNP	ENST00000257836.3	37	c.171G>A	CCDS7881.1																																																																																				0.348	PRRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388446.1	NM_024081		15	31	0	0	0	1	0	15	31				
UNC5B	219699	broad.mit.edu	37	10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr10:73050857G>A	ENST00000335350.6	+	9	1701	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	429					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.A429T(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTTTAAGACGGCAAGGCCCAG	0.597																																						ENST00000335350.6																			2	Substitution - Missense(2)	p.A429T(2)	prostate(2)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1285-1287)Gca>Aca		unc-5 homolog B (C. elegans)							165.0	158.0	160.0					10																	73050857		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050857G>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1285G>A	10.37:g.73050857G>A	ENSP00000334329:p.Ala429Thr		Somatic				UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	p.A429T	NM_170744.4	NP_734465.2	WXS	Illumina GAIIx	Phase_I	Q8IZJ1	UNC5B_HUMAN			9	1701	+			429					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1285G>A	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	4.088	0.014355	0.07959	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.51574	0.78;0.7	5.39	2.49	0.30216	.	0.365957	0.31495	N	0.007559	T	0.37758	0.1015	L	0.53249	1.67	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.002	T	0.25152	-1.0140	10	0.31617	T	0.26	-3.4221	6.4845	0.22081	0.1408:0.0:0.4509:0.4083	.	418;429	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	T	429;418	ENSP00000334329:A429T;ENSP00000362288:A418T	ENSP00000334329:A429T	A	+	1	0	UNC5B	72720863	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	1.081000	0.30791	0.253000	0.21552	-0.136000	0.14681	GCA		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		4	171	0	0	0	1	0	4	171				
AHCTF1	25909	broad.mit.edu	37	1	247006072	247006072	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:247006072C>T	ENST00000391829.2	-	35	6655	c.6532G>A	c.(6532-6534)Gat>Aat	p.D2178N	AHCTF1_ENST00000326225.3_Missense_Mutation_p.D2187N|AHCTF1_ENST00000366508.1_Missense_Mutation_p.D2213N|AHCTF1_ENST00000470300.1_Intron			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2178	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GATTGTGCATCATCTTTCTAT	0.358																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(6637-6639)Gat>Aat		AT hook containing transcription factor 1							210.0	193.0	198.0					1																	247006072		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247006072C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.6532G>A	1.37:g.247006072C>T	ENSP00000375705:p.Asp2178Asn		Somatic				AHCTF1_ENST00000391829.2_Missense_Mutation_p.D2178N|AHCTF1_ENST00000470300.1_Intron|AHCTF1_ENST00000326225.3_Missense_Mutation_p.D2187N	p.D2213N			WXS	Illumina GAIIx	Phase_I	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		35	6773	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	2178	P -> L (in Ref. 1; BAB78516).		Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.6637G>A		.	.	.	.	.	.	.	.	.	.	C	11.66	1.705405	0.30232	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.38560	1.13;1.14;1.14	5.06	3.16	0.36331	.	0.275715	0.31233	N	0.008009	T	0.34424	0.0897	L	0.52364	1.645	0.35087	D	0.763997	B;B	0.20887	0.047;0.049	B;B	0.18263	0.021;0.018	T	0.35500	-0.9786	10	0.31617	T	0.26	-11.8773	9.7454	0.40444	0.0:0.8362:0.0:0.1638	.	2213;2178	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	N	2213;2187;2178	ENSP00000355464:D2213N;ENSP00000355465:D2187N;ENSP00000375705:D2178N	ENSP00000355465:D2187N	D	-	1	0	AHCTF1	245072695	0.697000	0.27767	0.975000	0.42487	0.300000	0.27592	0.040000	0.13905	0.624000	0.30286	0.591000	0.81541	GAT		0.358	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		22	43	0	0	0	1	0	22	43				
TNS4	84951	broad.mit.edu	37	17	38645057	38645057	+	Missense_Mutation	SNP	T	T	C	rs372464786		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:38645057T>C	ENST00000254051.6	-	3	762	c.604A>G	c.(604-606)Atc>Gtc	p.I202V		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	202	Ser-rich.				apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCAGAGAAGATGAGGCTCTCA	0.652																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(604-606)Atc>Gtc		tensin 4		T	VAL/ILE	0,4390		0,0,2195	37.0	46.0	43.0		604	5.8	1.0	17		43	1,8577		0,1,4288	no	missense	TNS4	NM_032865.5	29	0,1,6483	CC,CT,TT		0.0117,0.0,0.0077	probably-damaging	202/716	38645057	1,12967	2195	4289	6484	SO:0001583	missense	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38645057T>C	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.604A>G	17.37:g.38645057T>C	ENSP00000254051:p.Ile202Val		Somatic					p.I202V	NM_032865.5	NP_116254.4	WXS	Illumina GAIIx	Phase_I	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		3	762	-		Breast(137;0.000496)	202			Ser-rich.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	ENST00000254051.6	37	c.604A>G	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501552	0.64298	0.0	1.17E-4	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19669	2.13	5.77	5.77	0.91146	.	0.448288	0.16590	N	0.207787	T	0.20780	0.0500	L	0.34521	1.04	0.24227	N	0.995418	D	0.55605	0.972	P	0.49085	0.6	T	0.11542	-1.0583	10	0.20519	T	0.43	-30.3227	9.592	0.39552	0.0:0.0793:0.0:0.9207	.	202	Q8IZW8	TENS4_HUMAN	V	202	ENSP00000254051:I202V	ENSP00000254051:I202V	I	-	1	0	TNS4	35898583	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.385000	0.44371	2.203000	0.70933	0.460000	0.39030	ATC		0.652	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		23	50	0	0	0	1	0	23	50				
PRR14	78994	broad.mit.edu	37	16	30666177	30666177	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:30666177G>A	ENST00000542965.2	+	7	1342	c.886G>A	c.(886-888)Gct>Act	p.A296T	PRR14_ENST00000300835.4_Missense_Mutation_p.A296T|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	296	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCAGTCTGGGGCTGCTGAGGG	0.637																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(886-888)Gct>Act		proline rich 14							40.0	43.0	42.0					16																	30666177		2197	4299	6496	SO:0001583	missense	78994							g.chr16:30666177G>A	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.886G>A	16.37:g.30666177G>A	ENSP00000441641:p.Ala296Thr		Somatic				PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.A296T	p.A296T			WXS	Illumina GAIIx	Phase_I	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1342	+			296			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.886G>A	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675314	0.47781	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.46063	0.88;0.88	5.45	4.48	0.54585	.	2.915910	0.01328	N	0.011165	T	0.52500	0.1738	L	0.57536	1.79	0.18873	N	0.999986	P	0.44816	0.844	P	0.46076	0.503	T	0.49000	-0.8984	10	0.52906	T	0.07	-5.3799	12.3215	0.54987	0.0852:0.0:0.9148:0.0	.	296	Q9BWN1	PRR14_HUMAN	T	269;296;296	ENSP00000300835:A296T;ENSP00000441641:A296T	ENSP00000287463:A269T	A	+	1	0	PRR14	30573678	0.784000	0.28713	0.358000	0.25811	0.997000	0.91878	1.092000	0.30927	2.716000	0.92895	0.643000	0.83706	GCT		0.637	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		15	21	0	0	0	1	0	15	21				
NEFH	4744	broad.mit.edu	37	22	29885828	29885828	+	Silent	SNP	C	C	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr22:29885828C>A	ENST00000310624.6	+	4	2232	c.2199C>A	c.(2197-2199)ccC>ccA	p.P733P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	739	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.P733P(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAAAGACCCCCGAGAAGGCCA	0.542																																						ENST00000310624.6																			1	Substitution - coding silent(1)	p.P733P(1)	endometrium(1)	cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2197-2199)ccC>ccA		neurofilament, heavy polypeptide							103.0	107.0	106.0					22																	29885828		2203	4300	6503	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29885828C>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2199C>A	22.37:g.29885828C>A			Somatic					p.P733P	NM_021076.3	NP_066554.2	WXS	Illumina GAIIx	Phase_I	P12036	NFH_HUMAN			4	2232	+			739			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.2199C>A	CCDS13858.1																																																																																				0.542	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		3	65	1	0	1	1	1	3	65				
MAN2A1	4124	broad.mit.edu	37	5	109106204	109106204	+	Silent	SNP	C	C	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:109106204C>G	ENST00000261483.4	+	7	2210	c.1158C>G	c.(1156-1158)gtC>gtG	p.V386V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	386					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CCTGGGGAGTCCCCCCAGAAA	0.433																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1156-1158)gtC>gtG		mannosidase, alpha, class 2A, member 1							86.0	84.0	85.0					5																	109106204		2202	4300	6502	SO:0001819	synonymous_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109106204C>G		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1158C>G	5.37:g.109106204C>G			Somatic					p.V386V	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	7	2210	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	386					Q16767	Silent	SNP	ENST00000261483.4	37	c.1158C>G	CCDS34209.1																																																																																				0.433	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			3	68	0	0	0	1	0	3	68				
ANXA2	302	broad.mit.edu	37	15	60648185	60648185	+	Missense_Mutation	SNP	T	T	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:60648185T>A	ENST00000396024.3	-	8	620	c.461A>T	c.(460-462)gAt>gTt	p.D154V	ANXA2_ENST00000332680.4_Missense_Mutation_p.D172V|ANXA2_ENST00000421017.2_Missense_Mutation_p.D154V|ANXA2_ENST00000451270.2_Missense_Mutation_p.D154V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	154					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	CTTCTCCAGATCAGTCTTGTA	0.473																																						ENST00000396024.3																			0				kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9						c.(460-462)gAt>gTt		annexin A2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						151.0	131.0	137.0					15																	60648185		2203	4300	6503	SO:0001583	missense	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60648185T>A	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.461A>T	15.37:g.60648185T>A	ENSP00000379342:p.Asp154Val		Somatic				ANXA2_ENST00000451270.2_Missense_Mutation_p.D154V|ANXA2_ENST00000332680.4_Missense_Mutation_p.D172V|ANXA2_ENST00000421017.2_Missense_Mutation_p.D154V	p.D154V	NM_001136015.2	NP_001129487.1	WXS	Illumina GAIIx	Phase_I	P07355	ANXA2_HUMAN			8	620	-			154					Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	c.461A>T	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898927	0.72754	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270;ENST00000504475	T;T;T;T	0.04360	3.64;3.64;3.64;3.64	5.78	5.78	0.91487	Annexin repeat, conserved site (1);	0.059193	0.64402	U	0.000004	T	0.25494	0.0620	H	0.96015	3.755	0.80722	D	1	B;P	0.36683	0.442;0.565	B;P	0.47346	0.188;0.544	T	0.07770	-1.0755	10	0.72032	D	0.01	.	15.0972	0.72244	0.0:0.0:0.0:1.0	.	172;154	P07355-2;P07355	.;ANXA2_HUMAN	V	154;172;154;154;37	ENSP00000379342:D154V;ENSP00000346032:D172V;ENSP00000411352:D154V;ENSP00000387545:D154V	ENSP00000346032:D172V	D	-	2	0	ANXA2	58435477	1.000000	0.71417	0.728000	0.30774	0.633000	0.38033	6.898000	0.75676	2.200000	0.70718	0.460000	0.39030	GAT		0.473	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1	NM_001002857		16	17	0	0	0	1	0	16	17				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G			Somatic								WXS	Illumina GAIIx	Phase_I			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	16	0	0	0	1	0	4	16				
NBPF3	84224	broad.mit.edu	37	1	21798124	21798124	+	Missense_Mutation	SNP	A	A	G	rs568222571		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr1:21798124A>G	ENST00000318249.5	+	5	859	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	NBPF3_ENST00000454000.2_Missense_Mutation_p.Q100R|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000318220.6_Missense_Mutation_p.Q114R	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	170						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGAAGTTACAGGAAGGGAGA	0.517													.|||	1	0.000199681	0.0	0.0	5008	,	,		20334	0.0		0.0	False		,,,				2504	0.001					ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(340-342)cAg>cGg		neuroblastoma breakpoint family, member 3							119.0	130.0	126.0					1																	21798124		2203	4298	6501	SO:0001583	missense	84224					cytoplasm		g.chr1:21798124A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.509A>G	1.37:g.21798124A>G	ENSP00000316782:p.Gln170Arg		Somatic				NBPF3_ENST00000318249.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000342104.5_Missense_Mutation_p.Q170R|NBPF3_ENST00000454000.2_Missense_Mutation_p.Q100R	p.Q114R			WXS	Illumina GAIIx	Phase_I	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1389	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	170		Y -> C (in dbSNP:rs1827293).			A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.341A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.352898	0.00217	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.43688	0.94;4.79;4.76;4.71;4.79	1.23	-1.78	0.07957	.	.	.	.	.	T	0.10723	0.0262	N	0.00960	-1.095	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.24261	-1.0165	9	0.02654	T	1	.	5.6506	0.17614	0.6152:0.0:0.3848:0.0	.	100;170;170	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	R	100;114;170;114;170;114	ENSP00000415711:Q100R;ENSP00000316739:Q114R;ENSP00000316782:Q170R;ENSP00000340336:Q170R;ENSP00000391865:Q114R	ENSP00000316739:Q114R	Q	+	2	0	NBPF3	21670711	0.082000	0.21442	0.000000	0.03702	0.005000	0.04900	-1.244000	0.02902	-1.121000	0.02949	-1.559000	0.00887	CAG		0.517	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	170	0	0	0	1	0	6	170				
RGS11	8786	broad.mit.edu	37	16	321227	321227	+	Silent	SNP	G	G	A	rs370941756		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr16:321227G>A	ENST00000397770.3	-	12	854	c.837C>T	c.(835-837)gaC>gaT	p.D279D	RGS11_ENST00000359740.5_Silent_p.D268D|RGS11_ENST00000316163.5_Silent_p.D258D|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	279	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.D279E(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCAGTAGGCGTCATTGTCTG	0.672																																						ENST00000397770.3																			1	Substitution - Missense(1)	p.D279E(1)	lung(1)	endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(835-837)gaC>gaT		regulator of G-protein signaling 11		G	,	0,4404		0,0,2202	30.0	36.0	34.0		774,837	-8.2	0.0	16		34	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous	RGS11	NM_003834.1,NM_183337.1	,	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	,	258/447,279/468	321227	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321227G>A	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.837C>T	16.37:g.321227G>A			Somatic				ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.D268D|RGS11_ENST00000316163.5_Silent_p.D258D	p.D279D			WXS	Illumina GAIIx	Phase_I	O94810	RGS11_HUMAN			12	854	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	279			G protein gamma.		O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	c.837C>T	CCDS42088.1																																																																																				0.672	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			8	12	0	0	0	1	0	8	12				
VWA8	23078	broad.mit.edu	37	13	42461419	42461419	+	Missense_Mutation	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr13:42461419G>A	ENST00000379310.3	-	6	798	c.730C>T	c.(730-732)Cca>Tca	p.P244S	VWA8_ENST00000281496.6_Missense_Mutation_p.P244S	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	244						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CTTGGCACTGGCAAGCCCAAG	0.413																																						ENST00000379310.3																			0											c.(730-732)Cca>Tca		von Willebrand factor A domain containing 8							69.0	73.0	72.0					13																	42461419		2203	4300	6503	SO:0001583	missense	23078							g.chr13:42461419G>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.730C>T	13.37:g.42461419G>A	ENSP00000368612:p.Pro244Ser		Somatic				VWA8_ENST00000281496.6_Missense_Mutation_p.P244S	p.P244S	NM_015058.1	NP_055873.1	WXS	Illumina GAIIx	Phase_I					6	798	-								O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.730C>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857441	0.91433	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.55760	0.5;0.5	5.11	5.11	0.69529	ATPase, dynein-related, AAA domain (1);	0.000000	0.64402	D	0.000001	T	0.81178	0.4768	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86716	0.1939	10	0.87932	D	0	.	18.9359	0.92584	0.0:0.0:1.0:0.0	.	244	A3KMH1	K0564_HUMAN	S	148;244;244;244	ENSP00000368612:P244S;ENSP00000281496:P244S	ENSP00000251030:P148S	P	-	1	0	KIAA0564	41359419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.740000	0.98839	2.538000	0.85594	0.650000	0.86243	CCA		0.413	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		3	52	0	0	0	1	0	3	52				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G			Somatic								WXS	Illumina GAIIx	Phase_I					0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			4	21	0	0	0	1	0	4	21				
ABHD2	11057	broad.mit.edu	37	15	89694924	89694924	+	Missense_Mutation	SNP	A	A	G			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr15:89694924A>G	ENST00000352732.5	+	4	731	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	ABHD2_ENST00000565973.1_Missense_Mutation_p.I71V|ABHD2_ENST00000355100.3_Missense_Mutation_p.I71V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	71					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCCACCGTTGATCTGGGGGAA	0.453																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(211-213)Atc>Gtc		abhydrolase domain containing 2							135.0	123.0	127.0					15																	89694924		2200	4299	6499	SO:0001583	missense	11057					integral to membrane	carboxylesterase activity	g.chr15:89694924A>G	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.211A>G	15.37:g.89694924A>G	ENSP00000268129:p.Ile71Val		Somatic				ABHD2_ENST00000565973.1_Missense_Mutation_p.I71V|ABHD2_ENST00000355100.3_Missense_Mutation_p.I71V	p.I71V	NM_152924.4	NP_690888.1	WXS	Illumina GAIIx	Phase_I	P08910	ABHD2_HUMAN			4	731	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		71					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	ENST00000352732.5	37	c.211A>G	CCDS10348.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870785	0.51695	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.13901	2.55;2.55	6.03	6.03	0.97812	.	0.059876	0.64402	D	0.000002	T	0.12008	0.0292	L	0.29908	0.895	0.47778	D	0.999519	B	0.18310	0.027	B	0.19946	0.027	T	0.16158	-1.0412	10	0.15066	T	0.55	-0.1146	16.5655	0.84588	1.0:0.0:0.0:0.0	.	71	P08910	ABHD2_HUMAN	V	71	ENSP00000268129:I71V;ENSP00000347217:I71V	ENSP00000268129:I71V	I	+	1	0	ABHD2	87495928	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.166000	0.58203	2.302000	0.77476	0.533000	0.62120	ATC		0.453	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			36	68	0	0	0	1	0	36	68				
MYH4	4622	broad.mit.edu	37	17	10355524	10355524	+	Missense_Mutation	SNP	C	C	T			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr17:10355524C>T	ENST00000255381.2	-	27	3582	c.3472G>A	c.(3472-3474)Ggt>Agt	p.G1158S	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1158					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGGCCCCACCGGCTTCTTCC	0.612																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3472-3474)Ggt>Agt		myosin, heavy chain 4, skeletal muscle							82.0	91.0	88.0					17																	10355524		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10355524C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3472G>A	17.37:g.10355524C>T	ENSP00000255381:p.Gly1158Ser		Somatic				CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	p.G1158S	NM_017533.2	NP_060003.2	WXS	Illumina GAIIx	Phase_I	Q9Y623	MYH4_HUMAN			27	3582	-			1158						Missense_Mutation	SNP	ENST00000255381.2	37	c.3472G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771001	0.69992	.	.	ENSG00000141048	ENST00000255381	D	0.82167	-1.58	5.4	4.43	0.53597	Myosin tail (1);	0.000000	0.37955	U	0.001862	D	0.87281	0.6138	M	0.74647	2.275	0.58432	D	0.999997	P	0.50443	0.935	P	0.52481	0.7	D	0.88485	0.3071	10	0.59425	D	0.04	.	14.4601	0.67442	0.0:0.9286:0.0:0.0714	.	1158	Q9Y623	MYH4_HUMAN	S	1158	ENSP00000255381:G1158S	ENSP00000255381:G1158S	G	-	1	0	MYH4	10296249	1.000000	0.71417	0.278000	0.24718	0.760000	0.43138	6.017000	0.70805	1.417000	0.47077	0.655000	0.94253	GGT		0.612	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		51	93	0	0	0	1	0	51	93				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A			Somatic				MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	WXS	Illumina GAIIx	Phase_I	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	33	0	0	0	1	0	3	33				
PURA	5813	broad.mit.edu	37	5	139493896	139493898	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr5:139493896_139493898delGGC	ENST00000331327.3	+	1	189_191	c.130_132delGGC	c.(130-132)ggcdel	p.G49del	PURA_ENST00000505703.1_3'UTR	NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	49	Gly-rich.				DNA replication initiation (GO:0006270)|DNA unwinding involved in DNA replication (GO:0006268)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|DNA replication factor A complex (GO:0005662)|neuronal cell body (GO:0043025)|nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)	double-stranded telomeric DNA binding (GO:0003691)|poly(A) RNA binding (GO:0044822)|purine-rich negative regulatory element binding (GO:0032422)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)	p.G44delG(1)		central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcggcagtggcggcggcggcg	0.778																																						ENST00000331327.3																			1	Deletion - In frame(1)	p.G44delG(1)	central_nervous_system(1)	central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						c.(130-132)ggcdel		purine-rich element binding protein A				16,814		2,12,401						2.8	1.0			3	100,2536		12,76,1230	no	coding	PURA	NM_005859.4		14,88,1631	A1A1,A1R,RR		3.7936,1.9277,3.3468				116,3350				SO:0001651	inframe_deletion	5813				DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding	g.chr5:139493896_139493898delGGC	BC036087	CCDS4220.1	5q31	2008-02-05			ENSG00000185129	ENSG00000185129			9701	protein-coding gene	gene with protein product		600473				1448097	Standard	NM_005859		Approved	PURALPHA, PUR1, PUR-ALPHA	uc003lfa.3	Q00577	OTTHUMG00000129242	ENST00000331327.3:c.130_132delGGC	5.37:g.139493905_139493907delGGC	ENSP00000332706:p.Gly49del		Somatic				PURA_ENST00000505703.1_3'UTR	p.G49del	NM_005859.4	NP_005850.1	WXS	Illumina GAIIx	Phase_I	Q00577	PURA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	189_191	+			49			Gly-rich.			In_Frame_Del	DEL	ENST00000331327.3	37	c.130_132delGGC	CCDS4220.1																																																																																				0.778	PURA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251341.3	NM_005859		4	3						4	3	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.(1255-1269)ctgggggtgcaaggt>ctgt		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA			Somatic					p.GVQG420del	NM_174922.3	NP_777582.4	WXS	Illumina GAIIx	Phase_I	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		420					B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1257_1267delGGGGGTGCAAGGTGA	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	2	4						2	4	---	---	---	---
ABCB9	23457	broad.mit.edu	37	12	123466190	123466190	+	5'UTR	DEL	C	C	-	rs190753885		TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chr12:123466190delC	ENST00000542678.1	-	0	6				ARL6IP4_ENST00000392435.2_Frame_Shift_Del_p.S202fs|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000426960.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000357866.4_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000453766.2_Frame_Shift_Del_p.S213fs|ARL6IP4_ENST00000315580.5_Frame_Shift_Del_p.S221fs|ARL6IP4_ENST00000412505.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000543566.1_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000454885.2_Frame_Shift_Del_p.S87fs|ARL6IP4_ENST00000439686.2_Frame_Shift_Del_p.S90fs			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		AGctcctcctcctcttcttcc	0.562																																					Ovarian(49;786 1333 9175 38236)	ENST00000315580.5																			0											c.(601-603)tccfs		ADP-ribosylation-like factor 6 interacting protein 4							21.0	21.0	21.0					12																	123466190		2197	4290	6487	SO:0001623	5_prime_UTR_variant	51329				RNA splicing	nucleus		g.chr12:123466190delC	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.-2833G>-	12.37:g.123466190delC			Somatic				ABCB9_ENST00000542678.1_5'UTR|ARL6IP4_ENST00000357866.4_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000439686.2_Frame_Shift_Del_p.S90fs|ARL6IP4_ENST00000412505.2_Frame_Shift_Del_p.S79fs|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000454885.2_Frame_Shift_Del_p.S87fs|ARL6IP4_ENST00000453766.2_Frame_Shift_Del_p.S213fs|ARL6IP4_ENST00000426960.2_Frame_Shift_Del_p.S79fs|ARL6IP4_ENST00000392435.2_Frame_Shift_Del_p.S202fs|ARL6IP4_ENST00000543566.1_Frame_Shift_Del_p.S202fs	p.S221fs			WXS	Illumina GAIIx	Phase_I	Q66PJ3	AR6P4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	3	930	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		221			Ser-rich.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Frame_Shift_Del	DEL	ENST00000542678.1	37	c.602delC	CCDS9241.1																																																																																				0.562	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		2	4						2	4	---	---	---	---
UBA1	7317	broad.mit.edu	37	X	47060312	47060312	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WC-A87Y-01A-11D-A39W-08	TCGA-WC-A87Y-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6bff1ee-0e7e-418c-aad4-d5470a5dbd48	3a081511-d345-4f45-81a3-9ab6bc4c966a	g.chrX:47060312delC	ENST00000335972.6	+	6	683	c.500delC	c.(499-501)accfs	p.T167fs	UBA1_ENST00000377351.4_Frame_Shift_Del_p.T167fs	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	167	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTCACCAACACCCCCCTGGAG	0.622																																						ENST00000335972.6																			0				breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(499-501)accfs		ubiquitin-like modifier activating enzyme 1							58.0	44.0	49.0					X																	47060312		2201	4295	6496	SO:0001589	frameshift_variant	7317				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity	g.chrX:47060312delC	AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.500delC	X.37:g.47060312delC	ENSP00000338413:p.Thr167fs		Somatic				UBA1_ENST00000377351.4_Frame_Shift_Del_p.T167fs	p.T167fs	NM_003334.3	NP_003325.2	WXS	Illumina GAIIx	Phase_I	P22314	UBA1_HUMAN			6	683	+			167			2 approximate repeats.		Q5JRR8|Q96E13	Frame_Shift_Del	DEL	ENST00000335972.6	37	c.500delC	CCDS14275.1																																																																																				0.622	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334		2	4						2	4	---	---	---	---
