#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
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		19	24	0	0	0	1	0	19	24				
ABCA13	154664	broad.mit.edu	37	7	48311887	48311887	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr7:48311887A>T	ENST00000435803.1	+	17	2648	c.2624A>T	c.(2623-2625)cAg>cTg	p.Q875L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	875					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AACTTTTCCCAGTTGTTCCAT	0.313																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(2623-2625)cAg>cTg		ATP-binding cassette, sub-family A (ABC1), member 13							107.0	106.0	107.0					7																	48311887		1811	4073	5884	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48311887A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2624A>T	7.37:g.48311887A>T	ENSP00000411096:p.Gln875Leu		Somatic					p.Q875L	NM_152701.3	NP_689914.2	WXS	Illumina GAIIx	Phase_I	Q86UQ4	ABCAD_HUMAN			17	2648	+			875					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.2624A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	9.081	0.999410	0.19121	.	.	ENSG00000179869	ENST00000435803	D	0.85629	-2.01	5.33	1.53	0.23141	.	0.536026	0.15692	N	0.249392	T	0.78000	0.4215	M	0.64997	1.995	0.09310	N	1	P	0.38922	0.651	B	0.32805	0.153	T	0.70324	-0.4903	10	0.87932	D	0	.	5.1346	0.14928	0.6893:0.1521:0.1586:0.0	.	875	Q86UQ4	ABCAD_HUMAN	L	875	ENSP00000411096:Q875L	ENSP00000411096:Q875L	Q	+	2	0	ABCA13	48282433	0.008000	0.16893	0.002000	0.10522	0.242000	0.25591	1.272000	0.33109	0.502000	0.28037	0.528000	0.53228	CAG		0.313	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		31	50	0	0	0	1	0	31	50				
ANKAR	150709	broad.mit.edu	37	2	190569815	190569815	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:190569815C>G	ENST00000520309.1	+	8	1863	c.1775C>G	c.(1774-1776)tCc>tGc	p.S592C	ANKAR_ENST00000431575.2_Missense_Mutation_p.S521C|ANKAR_ENST00000438402.2_Missense_Mutation_p.S592C|ANKAR_ENST00000313581.4_Missense_Mutation_p.S592C|ANKAR_ENST00000281412.6_Missense_Mutation_p.S356C	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	592						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACTGTGTTCCAAAGCTGAT	0.433																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(1774-1776)tCc>tGc		ankyrin and armadillo repeat containing							166.0	142.0	150.0					2																	190569815		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190569815C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.1775C>G	2.37:g.190569815C>G	ENSP00000427882:p.Ser592Cys		Somatic				ANKAR_ENST00000313581.4_Missense_Mutation_p.S592C|ANKAR_ENST00000281412.6_Missense_Mutation_p.S356C|ANKAR_ENST00000431575.2_Missense_Mutation_p.S521C|ANKAR_ENST00000438402.2_Missense_Mutation_p.S592C	p.S592C	NM_144708.3	NP_653309.3	WXS	Illumina GAIIx	Phase_I	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		8	1863	+			592					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.1775C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	5.850	0.341047	0.11069	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17	5.63	-0.945	0.10388	.	0.484707	0.19558	N	0.111382	T	0.45915	0.1366	N	0.25380	0.74	0.09310	N	0.999997	.	.	.	.	.	.	T	0.38090	-0.9677	8	0.38643	T	0.18	-5.1425	6.9316	0.24444	0.3394:0.0693:0.0:0.5912	.	.	.	.	C	592;592;592;521;356	ENSP00000427882:S592C;ENSP00000313513:S592C;ENSP00000397243:S592C;ENSP00000393043:S521C;ENSP00000281412:S356C	ENSP00000281412:S356C	S	+	2	0	ANKAR	190278060	0.800000	0.28916	0.675000	0.29917	0.224000	0.24922	0.735000	0.26115	0.065000	0.16485	-1.683000	0.00735	TCC		0.433	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		7	129	0	0	0	1	0	7	129				
AADACL4	343066	broad.mit.edu	37	1	12711307	12711307	+	Missense_Mutation	SNP	C	C	T	rs559695381		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr1:12711307C>T	ENST00000376221.1	+	2	334	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	112						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCCAGACCCCGGCGAGGCAT	0.572																																						ENST00000376221.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(334-336)Cgg>Tgg		arylacetamide deacetylase-like 4							57.0	57.0	57.0					1																	12711307		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12711307C>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.334C>T	1.37:g.12711307C>T	ENSP00000365395:p.Arg112Trp		Somatic					p.R112W	NM_001013630.1	NP_001013652.1	WXS	Illumina GAIIx	Phase_I	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	2	334	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	112						Missense_Mutation	SNP	ENST00000376221.1	37	c.334C>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152062	0.38021	.	.	ENSG00000204518	ENST00000376221	T	0.60040	0.22	4.9	1.84	0.25277	.	0.076451	0.49916	U	0.000138	T	0.49253	0.1546	M	0.75085	2.285	0.09310	N	1	D	0.53619	0.961	B	0.40038	0.317	T	0.49283	-0.8956	10	0.48119	T	0.1	-18.1748	4.5334	0.12017	0.2898:0.5378:0.0:0.1725	.	112	Q5VUY2	ADCL4_HUMAN	W	112	ENSP00000365395:R112W	ENSP00000365395:R112W	R	+	1	2	AADACL4	12633894	0.000000	0.05858	0.005000	0.12908	0.917000	0.54804	-2.711000	0.00817	0.468000	0.27243	0.462000	0.41574	CGG		0.572	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630		14	25	0	0	0	1	0	14	25				
USP34	9736	broad.mit.edu	37	2	61433951	61433951	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:61433951A>G	ENST00000398571.2	-	71	9066	c.8990T>C	c.(8989-8991)cTt>cCt	p.L2997P	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2997					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TATTGACAGAAGTTCTACTAA	0.358																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(8989-8991)cTt>cCt		ubiquitin specific peptidase 34							74.0	70.0	71.0					2																	61433951		1858	4102	5960	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61433951A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8990T>C	2.37:g.61433951A>G	ENSP00000381577:p.Leu2997Pro		Somatic					p.L2997P	NM_014709.3	NP_055524.3	WXS	Illumina GAIIx	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		71	9066	-			2997					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8990T>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.813613	0.90790	.	.	ENSG00000115464	ENST00000263989;ENST00000398571	T	0.29142	1.58	5.82	5.82	0.92795	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45816	0.1361	L	0.55481	1.735	0.80722	D	1	D	0.58970	0.984	P	0.55161	0.77	T	0.43343	-0.9397	10	0.87932	D	0	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	2997	Q70CQ2	UBP34_HUMAN	P	2845;2997	ENSP00000381577:L2997P	ENSP00000263989:L2845P	L	-	2	0	USP34	61287455	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.225000	0.72522	0.460000	0.39030	CTT		0.358	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			8	24	0	0	0	1	0	8	24				
COL14A1	7373	broad.mit.edu	37	8	121237427	121237427	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr8:121237427A>G	ENST00000297848.3	+	15	2108	c.1838A>G	c.(1837-1839)gAg>gGg	p.E613G	COL14A1_ENST00000309791.4_Missense_Mutation_p.E613G|COL14A1_ENST00000247781.3_Missense_Mutation_p.E518G|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACAGTCAGAGCCTCTGACT	0.423																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1837-1839)gAg>gGg		collagen, type XIV, alpha 1							75.0	74.0	74.0					8																	121237427		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121237427A>G		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1838A>G	8.37:g.121237427A>G	ENSP00000297848:p.Glu613Gly		Somatic				COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.E613G|COL14A1_ENST00000247781.3_Missense_Mutation_p.E518G|COL14A1_ENST00000432943.2_3'UTR	p.E613G	NM_021110.1	NP_066933.1	WXS	Illumina GAIIx	Phase_I	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		15	2108	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		613			Fibronectin type-III 4.			Missense_Mutation	SNP	ENST00000297848.3	37	c.1838A>G	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	A	15.39	2.819041	0.50633	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.39	4.22	0.49857	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.133204	0.52532	D	0.000079	T	0.61974	0.2390	M	0.76328	2.33	0.80722	D	1	D;P	0.54397	0.966;0.879	P;P	0.57371	0.819;0.708	T	0.60271	-0.7296	10	0.14252	T	0.57	.	9.7997	0.40757	0.8168:0.0:0.0:0.1832	.	613;613	Q05707-2;Q05707	.;COEA1_HUMAN	G	613;613;518;426	ENSP00000311809:E613G;ENSP00000297848:E613G;ENSP00000247781:E518G;ENSP00000409461:E426G	ENSP00000247781:E518G	E	+	2	0	COL14A1	121306608	1.000000	0.71417	0.506000	0.27664	0.796000	0.44982	5.607000	0.67648	0.847000	0.35167	0.459000	0.35465	GAG		0.423	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		29	60	0	0	0	1	0	29	60				
AGO2	27161	broad.mit.edu	37	8	141570580	141570580	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr8:141570580G>A	ENST00000220592.5	-	5	660	c.548C>T	c.(547-549)aCc>aTc	p.T183I	AGO2_ENST00000519980.1_Missense_Mutation_p.T183I	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	183					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TTCGGACGCGGTGAAGAAGGA	0.612																																						ENST00000220592.5																			0											c.(547-549)aCc>aTc		argonaute RISC catalytic component 2							56.0	60.0	59.0					8																	141570580		2203	4300	6503	SO:0001583	missense	27161							g.chr8:141570580G>A	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.548C>T	8.37:g.141570580G>A	ENSP00000220592:p.Thr183Ile		Somatic				AGO2_ENST00000519980.1_Missense_Mutation_p.T183I	p.T183I	NM_012154.3	NP_036286.2	WXS	Illumina GAIIx	Phase_I					5	660	-								Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	c.548C>T	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427286	0.62733	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.10288	2.89;2.89	5.02	5.02	0.67125	Argonaute/Dicer protein, PAZ (1);Domain of unknown function DUF1785 (1);	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	L	0.28649	0.875	0.80722	D	1	B;B	0.29805	0.257;0.069	B;B	0.33121	0.142;0.158	T	0.09907	-1.0653	10	0.87932	D	0	-14.5758	18.7056	0.91637	0.0:0.0:1.0:0.0	.	183;183	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	I	183	ENSP00000220592:T183I;ENSP00000430176:T183I	ENSP00000220592:T183I	T	-	2	0	EIF2C2	141639762	1.000000	0.71417	0.930000	0.37139	0.479000	0.33129	7.867000	0.87062	2.495000	0.84180	0.655000	0.94253	ACC		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			3	47	0	0	0	1	0	3	47				
SPHKAP	80309	broad.mit.edu	37	2	228881555	228881555	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr2:228881555C>T	ENST00000392056.3	-	7	4061	c.4015G>A	c.(4015-4017)Ggc>Agc	p.G1339S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1339S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1339						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAGGGAGAGCCACCAGAAACA	0.512																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(4015-4017)Ggc>Agc		SPHK1 interactor, AKAP domain containing							100.0	88.0	92.0					2																	228881555		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881555C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4015G>A	2.37:g.228881555C>T	ENSP00000375909:p.Gly1339Ser		Somatic				SPHKAP_ENST00000344657.5_Missense_Mutation_p.G1339S	p.G1339S	NM_001142644.1	NP_001136116.1	WXS	Illumina GAIIx	Phase_I	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4061	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1339					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4015G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886879	0.51908	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12039	2.72;2.72	5.67	4.79	0.61399	.	0.323944	0.36703	N	0.002456	T	0.15998	0.0385	M	0.69823	2.125	0.09310	N	0.999997	B;B;B	0.32653	0.094;0.379;0.372	B;B;B	0.27076	0.024;0.03;0.076	T	0.12604	-1.0541	10	0.22706	T	0.39	.	13.5017	0.61459	0.0:0.9254:0.0:0.0746	.	370;1339;1339	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	S	1339	ENSP00000375909:G1339S;ENSP00000339886:G1339S	ENSP00000339886:G1339S	G	-	1	0	SPHKAP	228589799	0.612000	0.27000	0.002000	0.10522	0.014000	0.08584	2.320000	0.43797	1.401000	0.46761	0.467000	0.42956	GGC		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		20	81	0	0	0	1	0	20	81				
FTHL17	53940	broad.mit.edu	37	X	31089834	31089834	+	Silent	SNP	G	G	T			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chrX:31089834G>T	ENST00000359202.3	-	1	336	c.237C>A	c.(235-237)ggC>ggA	p.G79G		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	79	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCAGATGTGGCCACCGCGCA	0.602																																						ENST00000359202.3																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						c.(235-237)ggC>ggA		ferritin, heavy polypeptide-like 17							62.0	55.0	57.0					X																	31089834		2202	4300	6502	SO:0001819	synonymous_variant	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089834G>T	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.237C>A	X.37:g.31089834G>T			Somatic					p.G79G	NM_031894.2	NP_114100.1	WXS	Illumina GAIIx	Phase_I	Q9BXU8	FHL17_HUMAN			1	336	-			79			Ferritin-like diiron.		Q6NT24|Q6NTE2	Silent	SNP	ENST00000359202.3	37	c.237C>A	CCDS14227.1																																																																																				0.602	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		8	39	1	0	0.000157383	1	0.00017487	8	39				
FOCAD	54914	broad.mit.edu	37	9	20929514	20929514	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:20929514C>A	ENST00000380249.1	+	29	3600	c.3236C>A	c.(3235-3237)gCt>gAt	p.A1079D	FOCAD_ENST00000338382.6_Missense_Mutation_p.A1079D|FOCAD_ENST00000605086.1_Missense_Mutation_p.A515D	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	1079						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AAACCAAGTGCTGATGAGTCT	0.443																																						ENST00000380249.1																			0											c.(3235-3237)gCt>gAt		focadhesin							121.0	92.0	102.0					9																	20929514		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20929514C>A	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.3236C>A	9.37:g.20929514C>A	ENSP00000369599:p.Ala1079Asp		Somatic				FOCAD_ENST00000605086.1_Missense_Mutation_p.A515D|FOCAD_ENST00000338382.6_Missense_Mutation_p.A1079D	p.A1079D	NM_017794.3	NP_060264.3	WXS	Illumina GAIIx	Phase_I	Q5VW36	K1797_HUMAN			29	3600	+			1079					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.3236C>A	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459661	0.96240	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.14640	2.49;2.49	6.16	6.16	0.99307	Armadillo-type fold (1);	0.048945	0.85682	D	0.000000	T	0.38427	0.1040	M	0.71581	2.175	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.02126	-1.1209	10	0.87932	D	0	-26.1172	20.8598	0.99761	0.0:1.0:0.0:0.0	.	1079	Q5VW36	K1797_HUMAN	D	1079	ENSP00000369599:A1079D;ENSP00000344307:A1079D	ENSP00000344307:A1079D	A	+	2	0	KIAA1797	20919514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.271000	0.78506	2.937000	0.99478	0.650000	0.86243	GCT		0.443	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		3	45	1	0	0.115264	1	0.115264	3	45				
DNM1	1759	broad.mit.edu	37	9	131008775	131008775	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:131008775G>A	ENST00000372923.3	+	16	1866	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	DNM1_ENST00000475805.1_Missense_Mutation_p.E592K|DNM1_ENST00000393594.3_Missense_Mutation_p.E592K|DNM1_ENST00000341179.7_Missense_Mutation_p.E592K|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000486160.1_Missense_Mutation_p.E592K|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000493925.1_3'UTR	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	592	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTTTAACACGGAGCAGAGGTG	0.557																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1774-1776)Gag>Aag		dynamin 1							136.0	95.0	109.0					9																	131008775		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008775G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1774G>A	9.37:g.131008775G>A	ENSP00000362014:p.Glu592Lys		Somatic				DNM1_ENST00000372923.3_Missense_Mutation_p.E592K|DNM1_ENST00000486160.1_Missense_Mutation_p.E592K|DNM1_ENST00000393594.3_Missense_Mutation_p.E592K|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Missense_Mutation_p.E592K	p.E592K	NM_001005336.1	NP_001005336.1	WXS	Illumina GAIIx	Phase_I	Q05193	DYN1_HUMAN			16	1866	+			592			PH.		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.1774G>A	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626414	0.96671	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160;ENST00000543158	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.249757	0.39407	N	0.001373	D	0.97059	0.9039	M	0.80982	2.52	0.80722	D	1	P;P	0.47484	0.896;0.873	P;P	0.55615	0.78;0.673	D	0.97059	0.9769	10	0.48119	T	0.1	-2.6415	17.8368	0.88700	0.0:0.0:1.0:0.0	.	592;592	Q05193;Q05193-3	DYN1_HUMAN;.	K	592;592;592;587;592;592;137	ENSP00000419225:E592K;ENSP00000345680:E592K;ENSP00000362014:E592K;ENSP00000377219:E592K;ENSP00000420045:E592K	ENSP00000345680:E592K	E	+	1	0	DNM1	130048596	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	9.476000	0.97823	2.436000	0.82500	0.498000	0.49722	GAG		0.557	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		7	8	0	0	0	1	0	7	8				
PNLIP	5406	broad.mit.edu	37	10	118314738	118314738	+	Missense_Mutation	SNP	G	G	A	rs149884015		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr10:118314738G>A	ENST00000369221.2	+	7	648	c.620G>A	c.(619-621)cGa>cAa	p.R207Q		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	207					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)	p.R207Q(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GAATTAGTCCGATTGGACCCC	0.483																																						ENST00000369221.2																			1	Substitution - Missense(1)	p.R207Q(1)	skin(1)	central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(619-621)cGa>cAa		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						91.0	83.0	85.0					10																	118314738		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118314738G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.620G>A	10.37:g.118314738G>A	ENSP00000358223:p.Arg207Gln		Somatic					p.R207Q	NM_000936.2	NP_000927.1	WXS	Illumina GAIIx	Phase_I	P16233	LIPP_HUMAN		all cancers(201;0.0131)	7	648	+			207					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.620G>A	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834656	0.91036	.	.	ENSG00000175535	ENST00000369221	D	0.93133	-3.17	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.000000	0.64402	D	0.000011	D	0.98024	0.9349	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98550	1.0636	10	0.87932	D	0	.	19.424	0.94734	0.0:0.0:1.0:0.0	.	207	P16233	LIPP_HUMAN	Q	207	ENSP00000358223:R207Q	ENSP00000358223:R207Q	R	+	2	0	PNLIP	118304728	1.000000	0.71417	0.998000	0.56505	0.521000	0.34408	8.029000	0.88807	2.890000	0.99128	0.585000	0.79938	CGA		0.483	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		21	38	0	0	0	1	0	21	38				
DNM1	1759	broad.mit.edu	37	9	131008684	131008684	+	Silent	SNP	G	G	A			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:131008684G>A	ENST00000372923.3	+	16	1775	c.1683G>A	c.(1681-1683)aaG>aaA	p.K561K	DNM1_ENST00000475805.1_Silent_p.K561K|DNM1_ENST00000393594.3_Silent_p.K561K|DNM1_ENST00000341179.7_Silent_p.K561K|MIR3154_ENST00000577829.1_RNA|DNM1_ENST00000486160.1_Silent_p.K561K|MIR199B_ENST00000384849.1_RNA|DNM1_ENST00000493925.1_3'UTR	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	561	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGAAAGAGAAGAAATACATGC	0.542																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1681-1683)aaG>aaA		dynamin 1							167.0	128.0	141.0					9																	131008684		2203	4300	6503	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131008684G>A	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1683G>A	9.37:g.131008684G>A			Somatic				DNM1_ENST00000372923.3_Silent_p.K561K|DNM1_ENST00000486160.1_Silent_p.K561K|DNM1_ENST00000393594.3_Silent_p.K561K|DNM1_ENST00000493925.1_3'UTR|DNM1_ENST00000475805.1_Silent_p.K561K	p.K561K	NM_001005336.1	NP_001005336.1	WXS	Illumina GAIIx	Phase_I	Q05193	DYN1_HUMAN			16	1775	+			561			PH.		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.1683G>A	CCDS6895.1																																																																																				0.542	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		11	8	0	0	0	1	0	11	8				
RPTN	126638	broad.mit.edu	37	1	152128319	152128319	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr1:152128319T>C	ENST00000316073.3	-	3	1320	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	419	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTTGTCGGTCCATCTGACT	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1255-1257)gAc>gGc		repetin							791.0	684.0	716.0					1																	152128319		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128319T>C	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1256A>G	1.37:g.152128319T>C	ENSP00000317895:p.Asp419Gly		Somatic					p.D419G	NM_001122965.1	NP_001116437.1	WXS	Illumina GAIIx	Phase_I	Q6XPR3	RPTN_HUMAN			3	1320	-			419			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1256A>G	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	T	5.949	0.359144	0.11239	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.11063	2.81	4.12	-1.3	0.09259	.	.	.	.	.	T	0.01835	0.0058	L	0.52759	1.655	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48080	-0.9066	9	0.05721	T	0.95	.	4.3432	0.11120	0.0:0.2252:0.3305:0.4443	.	419	Q6XPR3	RPTN_HUMAN	G	419;74	ENSP00000317895:D419G	ENSP00000317895:D419G	D	-	2	0	RPTN	150394943	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.099000	0.15210	-0.129000	0.11620	0.323000	0.21402	GAC		0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		4	382	0	0	0	1	0	4	382				
GRIP2	80852	broad.mit.edu	37	3	14581879	14581879	+	RNA	DEL	T	T	-	rs199582112	byFrequency	TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr3:14581879delT	ENST00000273083.3	-	0	2							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TGGCCCTCCCTCCCCTCCCCA	0.677													T|T|-|deletion	13	0.00259585	0.0	0.0014	5008	,	,		17642	0.0		0.0119	False		,,,				2504	0.0					ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2				24,3726		5,14,1856	30.0	32.0	31.0			2.9	0.0	3		32	113,7811		2,109,3851	no	frameshift	GRIP2	NM_001080423.2		7,123,5707	A1A1,A1R,RR		1.426,0.64,1.1735			14581879	137,11537	1974	4164	6138			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14581879delT	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14581879delT			Somatic								WXS	Illumina GAIIx	Phase_I	Q9C0E4	GRIP2_HUMAN			0	2	-								Q8TEH9|Q9H7H3	RNA	DEL	ENST00000273083.3	37																																																																																						0.677	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		8	10						8	10	---	---	---	---
RPS3AP15	652670	broad.mit.edu	37	3	75591977	75591978	+	lincRNA	INS	-	-	T	rs568176757|rs376787450		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr3:75591977_75591978insT	ENST00000608389.1	-	0	22																											CATAGCAGGTGCTTTCACATCA	0.396																																						ENST00000608389.1																			0																																																			0							g.chr3:75591977_75591978insT																													3.37:g.75591977_75591978insT			Somatic								WXS	Illumina GAIIx	Phase_I					0	22	-									RNA	INS	ENST00000608389.1	37																																																																																						0.396	CTD-2026G6.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471516.1			3	4						3	4	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82585204	82585204	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr7:82585204delT	ENST00000333891.9	-	5	5402	c.5065delA	c.(5065-5067)acafs	p.T1689fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.T1689fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.T1689fs*6(1)|p.T1620fs*6(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACAAACTTGTTTTTTTCTGT	0.428																																						ENST00000333891.9																			2	Insertion - Frameshift(2)	p.T1689fs*6(1)|p.T1620fs*6(1)	haematopoietic_and_lymphoid_tissue(2)	breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5065-5067)acafs		piccolo presynaptic cytomatrix protein							88.0	81.0	84.0					7																	82585204		1856	4091	5947	SO:0001589	frameshift_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585204delT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5065delA	7.37:g.82585204delT	ENSP00000334319:p.Thr1689fs		Somatic				PCLO_ENST00000423517.2_Frame_Shift_Del_p.T1689fs	p.T1689fs	NM_033026.5	NP_149015.2	WXS	Illumina GAIIx	Phase_I	Q9Y6V0	PCLO_HUMAN			5	5402	-									Frame_Shift_Del	DEL	ENST00000333891.9	37	c.5065delA	CCDS47630.1																																																																																				0.428	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	13						7	13	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC			Somatic						NR_001296.3		WXS	Illumina GAIIx	Phase_I					0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	8						4	8	---	---	---	---
CACNA1B	774	broad.mit.edu	37	9	141014734	141014736	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-V4-A9EK-01A-11D-A39W-08	TCGA-V4-A9EK-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	397a7be6-de7f-4ad3-94db-3d70a4deac6d	db3da402-fe98-494a-9b88-860c419545fc	g.chr9:141014734_141014736delCAC	ENST00000371372.1	+	45	6293_6295	c.6148_6150delCAC	c.(6148-6150)cacdel	p.H2054del	CACNA1B_ENST00000371355.4_In_Frame_Del_p.H2055del|CACNA1B_ENST00000371363.1_In_Frame_Del_p.H2052del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.H2053del|CACNA1B_ENST00000277549.5_In_Frame_Del_p.H1248del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.H2054del	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2054	Poly-His.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.H2050delH(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCGTCGTCGCACCACCACCACC	0.7																																						ENST00000277549.5																			1	Deletion - In frame(1)	p.H2050delH(1)	central_nervous_system(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80						c.(3730-3732)cacdel		calcium channel, voltage-dependent, N type, alpha 1B subunit	Amlodipine(DB00381)|Gabapentin(DB00996)			59,3775		11,37,1869							0.2			19	137,7599		26,85,3757	no	coding	CACNA1B	NM_000718.3		37,122,5626	A1A1,A1R,RR		1.7709,1.5389,1.694				196,11374				SO:0001651	inframe_deletion	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:141014734_141014736delCAC	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6148_6150delCAC	9.37:g.141014743_141014745delCAC	ENSP00000360423:p.His2054del		Somatic				CACNA1B_ENST00000371363.1_In_Frame_Del_p.H2052del|CACNA1B_ENST00000371355.4_In_Frame_Del_p.H2055del|CACNA1B_ENST00000277551.2_In_Frame_Del_p.H2054del|CACNA1B_ENST00000371357.1_In_Frame_Del_p.H2053del|CACNA1B_ENST00000371372.1_In_Frame_Del_p.H2054del	p.H1248del			WXS	Illumina GAIIx	Phase_I	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	45	6299_6301	+	all_cancers(76;0.166)		2054					B1AQK5	In_Frame_Del	DEL	ENST00000371372.1	37	c.3730_3732delCAC	CCDS59522.1																																																																																				0.700	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		3	5						3	5	---	---	---	---
