#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC6A3	6531	broad.mit.edu	37	5	1409836	1409836	+	Splice_Site	SNP	G	G	A	rs2270912	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr5:1409836G>A	ENST00000270349.9	-	10	1525	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	SLC6A3_ENST00000453492.2_Splice_Site_p.N466N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	466					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGTACGTACGTTGGTGACGC	0.617													G|||	23	0.00459265	0.0061	0.0043	5008	,	,		22372	0.0089		0.0	False		,,,				2504	0.0031					ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.e10+1		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	G		20,4386	27.2+/-55.0	0,20,2183	192.0	142.0	159.0		1398	-3.6	0.5	5	dbSNP_100	159	1,8597	1.2+/-3.3	0,1,4298	yes	coding-synonymous-near-splice	SLC6A3	NM_001044.4		0,21,6481	AA,AG,GG		0.0116,0.4539,0.1615		466/621	1409836	21,12983	2203	4299	6502	SO:0001630	splice_region_variant	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409836G>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1398+1C>T	5.37:g.1409836G>A						SLC6A3_ENST00000453492.2_Splice_Site_p.N466_splice	p.N466_splice	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		10	1525	-			466					A2RUN4|Q14996	Splice_Site	SNP	ENST00000270349.9	37	c.1398_splice	CCDS3863.1																																																																																				0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044	Silent	34	44	0	0	0	1	0	34	44				
TMC8	147138	broad.mit.edu	37	17	76130033	76130033	+	Silent	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:76130033G>A	ENST00000318430.5	+	7	1142	c.768G>A	c.(766-768)gtG>gtA	p.V256V	TMC8_ENST00000589691.1_Silent_p.V33V|TMC6_ENST00000322914.3_5'Flank	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	256					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCATCCGGGTGCAGGAAGCAG	0.577																																						ENST00000318430.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(766-768)gtG>gtA		transmembrane channel-like 8							73.0	72.0	73.0					17																	76130033		2203	4300	6503	SO:0001819	synonymous_variant	147138					endoplasmic reticulum membrane|integral to membrane		g.chr17:76130033G>A	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.768G>A	17.37:g.76130033G>A						TMC8_ENST00000589691.1_Silent_p.V33V	p.V256V	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		7	1142	+			256					Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.768G>A	CCDS32749.1																																																																																				0.577	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			31	35	0	0	0	1	0	31	35				
GATA6	2627	broad.mit.edu	37	18	19751533	19751533	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr18:19751533A>G	ENST00000269216.3	+	2	705	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	GATA6_ENST00000581694.1_Missense_Mutation_p.Q143R|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	143					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCCGAGCAGCCGGAGGAG	0.716																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(427-429)cAg>cGg		GATA binding protein 6							14.0	19.0	17.0					18																	19751533		2176	4263	6439	SO:0001583	missense	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751533A>G	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.428A>G	18.37:g.19751533A>G	ENSP00000269216:p.Gln143Arg					GATA6_ENST00000581694.1_Missense_Mutation_p.Q143R	p.Q143R	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	705	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		143					B0YJ17|P78327	Missense_Mutation	SNP	ENST00000269216.3	37	c.428A>G	CCDS11872.1	.	.	.	.	.	.	.	.	.	.	a	14.72	2.620219	0.46736	.	.	ENSG00000141448	ENST00000269216	D	0.97870	-4.58	3.15	1.95	0.26073	.	1.149030	0.06494	N	0.735174	D	0.93284	0.7860	N	0.24115	0.695	0.20926	N	0.999826	P	0.42827	0.791	B	0.38056	0.264	D	0.86812	0.1999	10	0.16420	T	0.52	-23.1144	7.9805	0.30181	0.5901:0.4099:0.0:0.0	.	143	Q92908	GATA6_HUMAN	R	143	ENSP00000269216:Q143R	ENSP00000269216:Q143R	Q	+	2	0	GATA6	18005531	0.998000	0.40836	0.867000	0.34043	0.991000	0.79684	0.922000	0.28734	0.304000	0.22809	0.370000	0.22315	CAG		0.716	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		6	33	0	0	0	1	0	6	33				
MYO3A	53904	broad.mit.edu	37	10	26500833	26500833	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:26500833G>A	ENST00000265944.5	+	35	4958	c.4792G>A	c.(4792-4794)Gac>Aac	p.D1598N	MYO3A_ENST00000543632.1_Missense_Mutation_p.R613Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1598					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAACCCCTACGACTTCAGGAG	0.652																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(4792-4794)Gac>Aac		myosin IIIA							46.0	54.0	52.0					10																	26500833		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26500833G>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.4792G>A	10.37:g.26500833G>A	ENSP00000265944:p.Asp1598Asn					MYO3A_ENST00000543632.1_Missense_Mutation_p.R613Q	p.D1598N	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			35	4958	+			1598					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.4792G>A	CCDS7148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.047550|4.047550	0.75846|0.75846	.|.	.|.	ENSG00000095777|ENSG00000095777	ENST00000265944|ENST00000543632	D|T	0.83914|0.75704	-1.78|-0.96	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81211|0.81211	0.4775|0.4775	L|L	0.36672|0.36672	1.1|1.1	0.35295|0.35295	D|D	0.782547|0.782547	D|D	0.89917|0.71674	1.0|0.998	D|D	0.83275|0.72982	0.996|0.979	D|D	0.86433|0.86433	0.1762|0.1762	10|9	0.35671|0.87932	T|D	0.21|0	.|.	17.9464|17.9464	0.89040|0.89040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1598|613	Q8NEV4|F5H0U9	MYO3A_HUMAN|.	N|Q	1598|613	ENSP00000265944:D1598N|ENSP00000445909:R613Q	ENSP00000265944:D1598N|ENSP00000445909:R613Q	D|R	+|+	1|2	0|0	MYO3A|MYO3A	26540839|26540839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.056000|0.056000	0.15407|0.15407	8.346000|8.346000	0.90060|0.90060	2.478000|2.478000	0.83669|0.83669	0.455000|0.455000	0.32223|0.32223	GAC|CGA		0.652	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	11	0	0	0	1	0	5	11				
MXRA5	25878	broad.mit.edu	37	X	3238337	3238337	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:3238337C>T	ENST00000217939.6	-	5	5543	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1797						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGGTGATCCCGTGGTCTGC	0.493																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(5389-5391)Gga>Aga		matrix-remodelling associated 5							88.0	83.0	85.0					X																	3238337		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238337C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5389G>A	X.37:g.3238337C>T	ENSP00000217939:p.Gly1797Arg						p.G1797R	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	5543	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1797					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.5389G>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	8.335	0.827310	0.16749	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62232	0.04	3.53	-1.14	0.09741	.	1.982520	0.03569	U	0.228242	T	0.36880	0.0983	N	0.08118	0	0.09310	N	1	B	0.19583	0.037	B	0.15484	0.013	T	0.20940	-1.0260	10	0.48119	T	0.1	.	0.2047	0.00149	0.2188:0.2104:0.2271:0.3437	.	1797	Q9NR99	MXRA5_HUMAN	R	1797	ENSP00000217939:G1797R	ENSP00000217939:G1797R	G	-	1	0	MXRA5	3248337	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.607000	0.05648	-0.005000	0.14395	-0.381000	0.06696	GGA		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		20	23	0	0	0	1	0	20	23				
TMEM248	55069	broad.mit.edu	37	7	66416082	66416082	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:66416082A>G	ENST00000341567.4	+	5	995	c.740A>G	c.(739-741)tAt>tGt	p.Y247C		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	247						integral component of membrane (GO:0016021)											GGAAAAGTCTATCATGCTTTA	0.428																																						ENST00000341567.4																			0											c.(739-741)tAt>tGt		transmembrane protein 248							112.0	105.0	107.0					7																	66416082		2203	4300	6503	SO:0001583	missense	55069							g.chr7:66416082A>G		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.740A>G	7.37:g.66416082A>G	ENSP00000340668:p.Tyr247Cys						p.Y247C	NM_017994.4	NP_060464.1					5	995	+								Q53H07|Q96FR2	Missense_Mutation	SNP	ENST00000341567.4	37	c.740A>G	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.455030	0.84209	.	.	ENSG00000106609	ENST00000341567	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.66915	0.2838	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.69892	-0.5022	9	0.72032	D	0.01	-11.6184	15.5232	0.75881	1.0:0.0:0.0:0.0	.	247	Q9NWD8	CG042_HUMAN	C	247	.	ENSP00000340668:Y247C	Y	+	2	0	C7orf42	66053517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.833000	0.92089	2.317000	0.78254	0.460000	0.39030	TAT		0.428	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		34	56	0	0	0	1	0	34	56				
ATP13A1	57130	broad.mit.edu	37	19	19758334	19758334	+	Missense_Mutation	SNP	G	G	A	rs568921217		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:19758334G>A	ENST00000357324.6	-	21	2823	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R815C	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	933						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGCTCAGGCGGTCCTGCAGG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		15950	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(142;920 1789 9047 14684 24777)	ENST00000357324.6																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						c.(2797-2799)Cgc>Tgc		ATPase type 13A1							62.0	53.0	56.0					19																	19758334		2203	4300	6503	SO:0001583	missense	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19758334G>A	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.2797C>T	19.37:g.19758334G>A	ENSP00000349877:p.Arg933Cys					ATP13A1_ENST00000291503.5_Missense_Mutation_p.R815C	p.R933C	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN			21	2823	-			933					B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Missense_Mutation	SNP	ENST00000357324.6	37	c.2797C>T	CCDS32970.2	.	.	.	.	.	.	.	.	.	.	g	18.50	3.637537	0.67130	.	.	ENSG00000105726	ENST00000291503;ENST00000357324	T;T	0.25912	1.77;1.77	5.52	4.47	0.54385	.	0.208611	0.48286	D	0.000193	T	0.42471	0.1204	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.61800	0.856;0.894	T	0.33189	-0.9878	10	0.59425	D	0.04	-26.4473	9.224	0.37395	0.0:0.1596:0.6751:0.1653	.	933;815	Q9HD20;Q9HD20-2	AT131_HUMAN;.	C	815;933	ENSP00000291503:R815C;ENSP00000349877:R933C	ENSP00000291503:R815C	R	-	1	0	ATP13A1	19619334	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.837000	0.48191	1.314000	0.45095	0.651000	0.88453	CGC		0.637	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410		3	22	0	0	0	1	0	3	22				
MET	4233	broad.mit.edu	37	7	116436092	116436092	+	Missense_Mutation	SNP	G	G	A	rs45578433	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:116436092G>A	ENST00000318493.6	+	21	4328	c.4141G>A	c.(4141-4143)Gct>Act	p.A1381T	MET_ENST00000397752.3_Missense_Mutation_p.A1363T|MET_ENST00000539704.1_Missense_Mutation_p.A233T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAAATGTGTCGCTCCGTATCC	0.463			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				G|||	6	0.00119808	0.0	0.0	5008	,	,		19634	0.005		0.0	False		,,,				2504	0.001					ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(4087-4089)Gct>Act		met proto-oncogene							191.0	173.0	179.0					7																	116436092		2011	4190	6201	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116436092G>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.4141G>A	7.37:g.116436092G>A	ENSP00000317272:p.Ala1381Thr					MET_ENST00000539704.1_Missense_Mutation_p.A233T|MET_ENST00000318493.6_Missense_Mutation_p.A1381T	p.A1363T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		21	4287	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1363			Interaction with RANBP9.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.4087G>A	CCDS47689.1	6	0.0027472527472527475	0	0.0	0	0.0	4	0.006993006993006993	2	0.002638522427440633	G	12.47	1.946470	0.34377	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.76968	-0.73;-0.73;-1.06	5.72	4.83	0.62350	.	0.196194	0.53938	D	0.000049	T	0.63861	0.2547	L	0.55481	1.735	0.39657	D	0.970559	B;P	0.52692	0.416;0.955	B;B	0.37989	0.062;0.262	T	0.69105	-0.5233	10	0.20046	T	0.44	.	16.4055	0.83662	0.0:0.0:0.8673:0.1327	rs45578433	1381;1363	P08581-2;P08581	.;MET_HUMAN	T	1363;1381;233	ENSP00000380860:A1363T;ENSP00000317272:A1381T;ENSP00000445020:A233T	ENSP00000317272:A1381T	A	+	1	0	MET	116223328	1.000000	0.71417	0.984000	0.44739	0.987000	0.75469	3.828000	0.55753	1.529000	0.49120	0.655000	0.94253	GCT		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			4	183	0	0	0	1	0	4	183				
SON	6651	broad.mit.edu	37	21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	rs142324795		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:34924118A>G	ENST00000356577.4	+	3	3056	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000381679.4_Missense_Mutation_p.M861V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493													A|||	1	0.000199681	0.0	0.0014	5008	,	,		26099	0.0		0.0	False		,,,				2504	0.0					ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2581-2583)Atg>Gtg		SON DNA binding protein		A	VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	173.0	169.0	170.0		2581,2581	5.7	1.0	21	dbSNP_134	170	0,8600		0,0,4300	yes	missense,missense	SON	NM_032195.1,NM_138927.1	21,21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	861/2304,861/2427	34924118	1,13005	2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34924118A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.2581A>G	21.37:g.34924118A>G	ENSP00000348984:p.Met861Val					SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.M861V	p.M861V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	3056	+			861			17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.		D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.2581A>G	CCDS13629.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	A	13.29	2.193512	0.38707	2.27E-4	0.0	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.80653	-1.4;-1.4;-1.4;-1.4	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000003	D	0.86418	0.5928	M	0.63843	1.955	0.29292	N	0.869312	P;P;B	0.50369	0.891;0.934;0.02	P;D;B	0.65684	0.867;0.937;0.041	T	0.80930	-0.1162	10	0.21014	T	0.42	.	13.9442	0.64075	1.0:0.0:0.0:0.0	.	861;861;861	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	V	861	ENSP00000348984:M861V;ENSP00000290239:M861V;ENSP00000300278:M861V;ENSP00000371095:M861V	ENSP00000290239:M861V	M	+	1	0	SON	33845988	0.861000	0.29849	1.000000	0.80357	0.955000	0.61496	1.578000	0.36525	2.168000	0.68352	0.524000	0.50904	ATG		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		81	112	0	0	0	1	0	81	112				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	89	0	0	0	1	0	3	89				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	76	0	0	0	1	0	4	76				
ZNF512B	57473	broad.mit.edu	37	20	62598777	62598777	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr20:62598777T>C	ENST00000450537.1	-	3	281	c.221A>G	c.(220-222)aAg>aGg	p.K74R	ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R|ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.(220-222)aAg>aGg		zinc finger protein 512B							132.0	131.0	131.0					20																	62598777		2203	4300	6503	SO:0001583	missense	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598777T>C	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.221A>G	20.37:g.62598777T>C	ENSP00000393795:p.Lys74Arg					ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R	p.K74R			Q96KM6	Z512B_HUMAN			3	281	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)		74					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.221A>G	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.861503	0.91433	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.50813	0.73;0.73;0.73	5.37	5.37	0.77165	.	0.052827	0.64402	D	0.000001	T	0.54351	0.1853	L	0.29908	0.895	0.35311	D	0.783854	D	0.76494	0.999	D	0.63283	0.913	T	0.67473	-0.5662	10	0.87932	D	0	-24.5009	13.9406	0.64052	0.0:0.0:0.0:1.0	.	74	Q96KM6	Z512B_HUMAN	R	74	ENSP00000358904:K74R;ENSP00000393795:K74R;ENSP00000217130:K74R	ENSP00000217130:K74R	K	-	2	0	ZNF512B	62069221	1.000000	0.71417	0.995000	0.50966	0.824000	0.46624	6.885000	0.75606	2.032000	0.59987	0.459000	0.35465	AAG		0.632	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		3	125	0	0	0	1	0	3	125				
PZP	5858	broad.mit.edu	37	12	9309931	9309931	+	Silent	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:9309931G>A	ENST00000261336.2	-	28	3418	c.3390C>T	c.(3388-3390)gcC>gcT	p.A1130A	PZP_ENST00000381997.2_Silent_p.A916A	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1130					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGCAGAACAGGGCATTGCGAA	0.507																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(3388-3390)gcC>gcT		pregnancy-zone protein							90.0	87.0	88.0					12																	9309931		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9309931G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3390C>T	12.37:g.9309931G>A						PZP_ENST00000381997.2_Silent_p.A916A	p.A1130A	NM_002864.2	NP_002855.2					28	3418	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.3390C>T	CCDS8600.1																																																																																				0.507	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		4	122	0	0	0	1	0	4	122				
CACNA1E	777	broad.mit.edu	37	1	181765891	181765891	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:181765891G>A	ENST00000367573.2	+	47	6296	c.6296G>A	c.(6295-6297)cGc>cAc	p.R2099H	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2037H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2056H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2050H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1988H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1663H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2080H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2099					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGTCTCCCGCTGCAATTCA	0.602																																						ENST00000526775.1																			0				NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(6109-6111)cGc>cAc		calcium channel, voltage-dependent, R type, alpha 1E subunit							36.0	39.0	38.0					1																	181765891		1969	4166	6135	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181765891G>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6296G>A	1.37:g.181765891G>A	ENSP00000356545:p.Arg2099His					CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1663H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1988H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2050H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2056H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2099H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2080H	p.R2037H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			45	6275	+			2099					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6110G>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659027	0.96734	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99158	-5.33;-5.31;-4.67;-5.3;-5.5;-4.67;-4.67	5.91	5.91	0.95273	.	0.000000	0.50627	D	0.000113	D	0.98842	0.9609	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.984;0.996	D	0.99924	1.1272	10	0.62326	D	0.03	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	2037;2056	Q15878-2;Q15878-3	.;.	H	2056;2037;2050;1988;1663;2080;2099	ENSP00000356542:R2056H;ENSP00000434814:R2037H;ENSP00000350183:R2050H;ENSP00000351101:R1988H;ENSP00000356539:R1663H;ENSP00000353222:R2080H;ENSP00000356545:R2099H	ENSP00000350183:R2050H	R	+	2	0	CACNA1E	180032514	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.050000	0.93843	2.793000	0.96121	0.655000	0.94253	CGC		0.602	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	15	0	0	0	1	0	3	15				
STAB1	23166	broad.mit.edu	37	3	52552602	52552602	+	Silent	SNP	C	C	T			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr3:52552602C>T	ENST00000321725.6	+	47	4936	c.4860C>T	c.(4858-4860)caC>caT	p.H1620H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1620	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCGTGCCGCACGCAGATCTAA	0.627																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4858-4860)caC>caT		stabilin 1							43.0	34.0	37.0					3																	52552602		2199	4295	6494	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52552602C>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4860C>T	3.37:g.52552602C>T							p.H1620H	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	47	4936	+			1620			FAS1 5.		A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.4860C>T	CCDS33768.1																																																																																				0.627	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		4	7	0	0	0	1	0	4	7				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			42	54	0	0	0	1	0	42	54				
MYH4	4622	broad.mit.edu	37	17	10355562	10355562	+	Missense_Mutation	SNP	C	C	T	rs534689609		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:10355562C>T	ENST00000255381.2	-	27	3544	c.3434G>A	c.(3433-3435)cGg>cAg	p.R1145Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1145					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)	p.R1145L(1)		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						CTCCAGCTCCCGGGAGAGGTC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17016	0.0		0.0	False		,,,				2504	0.001					ENST00000255381.2																			1	Substitution - Missense(1)	p.R1145L(1)	lung(1)	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.(3433-3435)cGg>cAg		myosin, heavy chain 4, skeletal muscle							66.0	75.0	72.0					17																	10355562		2203	4299	6502	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.chr17:10355562C>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.3434G>A	17.37:g.10355562C>T	ENSP00000255381:p.Arg1145Gln					CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1145Q	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			27	3544	-			1145						Missense_Mutation	SNP	ENST00000255381.2	37	c.3434G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390348	0.95988	.	.	ENSG00000141048	ENST00000255381	T	0.81163	-1.46	5.4	5.4	0.78164	Myosin tail (1);	0.000000	0.36101	U	0.002792	D	0.89385	0.6700	M	0.72118	2.19	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	D	0.88321	0.2962	10	0.44086	T	0.13	.	19.5183	0.95174	0.0:1.0:0.0:0.0	.	1145	Q9Y623	MYH4_HUMAN	Q	1145	ENSP00000255381:R1145Q	ENSP00000255381:R1145Q	R	-	2	0	MYH4	10296287	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.826000	0.62715	2.685000	0.91497	0.655000	0.94253	CGG		0.592	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		6	155	0	0	0	1	0	6	155				
ZNF761	388561	broad.mit.edu	37	19	53959188	53959188	+	RNA	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:53959188G>A	ENST00000454407.1	+	0	1880							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCGTTTCAAATCA	0.423																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							75.0	80.0	78.0					19																	53959188		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53959188G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959188G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1880	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.423	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		36	2	0	0	0	1	0	36	2				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	142	0	0	0	1	0	3	142				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	96	0	0	0	1	0	4	96				
CHST15	51363	broad.mit.edu	37	10	125780796	125780796	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:125780796G>C	ENST00000346248.5	-	6	1965	c.1323C>G	c.(1321-1323)aaC>aaG	p.N441K	CHST15_ENST00000435907.1_Missense_Mutation_p.N441K|CHST15_ENST00000421115.1_Missense_Mutation_p.N441K	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	441					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGAGGGTGTTGTTGTAGACGC	0.542																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(1321-1323)aaC>aaG		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							65.0	58.0	60.0					10																	125780796		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125780796G>C	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1323C>G	10.37:g.125780796G>C	ENSP00000333947:p.Asn441Lys					CHST15_ENST00000435907.1_Missense_Mutation_p.N441K|CHST15_ENST00000421115.1_Missense_Mutation_p.N441K	p.N441K	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			6	1965	-			441					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.1323C>G	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026926	0.75390	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	4.41	3.49	0.39957	Sulfotransferase domain (1);	0.108239	0.64402	D	0.000010	T	0.65811	0.2727	L	0.45422	1.42	0.51233	D	0.99991	D;B	0.89917	1.0;0.408	D;B	0.87578	0.998;0.13	T	0.62923	-0.6751	9	0.31617	T	0.26	-22.8097	12.6393	0.56700	0.0832:0.0:0.9168:0.0	.	441;441	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	K	441	.	ENSP00000333947:N441K	N	-	3	2	CHST15	125770786	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.332000	0.72934	1.996000	0.58369	0.467000	0.42956	AAC		0.542	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		10	10	0	0	0	1	0	10	10				
TTYH3	80727	broad.mit.edu	37	7	2698612	2698612	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:2698612A>G	ENST00000258796.7	+	13	1668	c.1463A>G	c.(1462-1464)aAc>aGc	p.N488S	TTYH3_ENST00000403167.1_Missense_Mutation_p.N317S|TTYH3_ENST00000407643.1_Missense_Mutation_p.N456S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	488					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|intracellular calcium activated chloride channel activity (GO:0005229)			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCTGTGAGAACACCCCACTC	0.642																																						ENST00000258796.7																			0				kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17						c.(1462-1464)aAc>aGc		tweety family member 3							136.0	130.0	132.0					7																	2698612		2203	4300	6503	SO:0001583	missense	80727					chloride channel complex|plasma membrane	chloride channel activity	g.chr7:2698612A>G		CCDS34588.1	7p22	2013-09-02	2013-09-02		ENSG00000136295	ENSG00000136295			22222	protein-coding gene	gene with protein product		608919	"""tweety homolog 3 (Drosophila)"""				Standard	NM_025250		Approved	KIAA1691	uc003smp.3	Q9C0H2	OTTHUMG00000152050	ENST00000258796.7:c.1463A>G	7.37:g.2698612A>G	ENSP00000258796:p.Asn488Ser					TTYH3_ENST00000407643.1_Missense_Mutation_p.N456S|TTYH3_ENST00000403167.1_Missense_Mutation_p.N317S	p.N488S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)	13	1668	+		Ovarian(82;0.0112)	488					A4D201|B7WP98|Q6L749|Q6ZVG3|Q8TEG6	Missense_Mutation	SNP	ENST00000258796.7	37	c.1463A>G	CCDS34588.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390116	0.82902	.	.	ENSG00000136295	ENST00000258796;ENST00000407643;ENST00000403167;ENST00000429448	T;T;T;T	0.37235	1.21;1.21;1.21;1.71	4.11	4.11	0.48088	.	0.000000	0.85682	U	0.000000	T	0.52041	0.1710	L	0.54323	1.7	0.54753	D	0.999988	D;D	0.89917	0.998;1.0	D;D	0.80764	0.994;0.994	T	0.46978	-0.9152	10	0.30078	T	0.28	.	13.409	0.60931	1.0:0.0:0.0:0.0	.	317;488	Q9C0H2-3;Q9C0H2	.;TTYH3_HUMAN	S	488;456;317;148	ENSP00000258796:N488S;ENSP00000385316:N456S;ENSP00000385015:N317S;ENSP00000413757:N148S	ENSP00000258796:N488S	N	+	2	0	TTYH3	2665138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.744000	0.68664	1.631000	0.50456	0.379000	0.24179	AAC		0.642	TTYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325082.2	XM_166523		95	131	0	0	0	1	0	95	131				
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							155.0	134.0	140.0					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu					ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	225	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	151			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		3	82	0	0	0	1	0	3	82				
KIAA1324	57535	broad.mit.edu	37	1	109707134	109707134	+	Silent	SNP	C	C	T	rs144842352		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:109707134C>T	ENST00000369939.3	+	3	471	c.288C>T	c.(286-288)aaC>aaT	p.N96N	KIAA1324_ENST00000529753.1_Silent_p.N96N	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	96					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCTCCTGCAACGCCGGGGAGT	0.592																																						ENST00000369939.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(286-288)aaC>aaT		KIAA1324		C		1,4405	2.1+/-5.4	0,1,2202	109.0	108.0	108.0		288	-7.5	0.9	1	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	KIAA1324	NM_020775.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		96/1014	109707134	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109707134C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.288C>T	1.37:g.109707134C>T						KIAA1324_ENST00000529753.1_Silent_p.N96N	p.N96N	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	3	471	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	96					Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Silent	SNP	ENST00000369939.3	37	c.288C>T	CCDS794.1																																																																																				0.592	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		76	18	0	0	0	1	0	76	18				
CCNT1	904	broad.mit.edu	37	12	49087565	49087565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:49087565C>A	ENST00000261900.3	-	9	1654	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	478					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TTTATCTCCTCTGGTTTTGAA	0.453																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1432-1434)Gag>Tag		cyclin T1							95.0	94.0	94.0					12																	49087565		2203	4300	6503	SO:0001587	stop_gained	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087565C>A	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1432G>T	12.37:g.49087565C>A	ENSP00000261900:p.Glu478*						p.E478*	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1654	-			478					A9XU13|E7EX76|O60581	Nonsense_Mutation	SNP	ENST00000261900.3	37	c.1432G>T	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803314	0.96960	.	.	ENSG00000129315	ENST00000261900	.	.	.	4.8	4.8	0.61643	.	0.458255	0.24590	N	0.037239	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.8064	16.968	0.86291	0.0:1.0:0.0:0.0	.	.	.	.	X	478	.	ENSP00000261900:E478X	E	-	1	0	CCNT1	47373832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.983000	0.70540	2.368000	0.80403	0.561000	0.74099	GAG		0.453	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		36	65	1	0	1.836e-18	1	1.93263e-18	36	65				
COLGALT1	79709	broad.mit.edu	37	19	17690296	17690296	+	Silent	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:17690296G>A	ENST00000252599.4	+	10	1392	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V		NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	424					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										CTCAGGTGGTGGACCGGGGGC	0.562																																						ENST00000252599.4																			0											c.(1270-1272)gtG>gtA		collagen beta(1-O)galactosyltransferase 1							79.0	70.0	73.0					19																	17690296		2203	4300	6503	SO:0001819	synonymous_variant	79709							g.chr19:17690296G>A	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.1272G>A	19.37:g.17690296G>A							p.V424V	NM_024656.2	NP_078932.2					10	1392	+								Q8NC64	Silent	SNP	ENST00000252599.4	37	c.1272G>A	CCDS12363.1																																																																																				0.562	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656		29	42	0	0	0	1	0	29	42				
GCM1	8521	broad.mit.edu	37	6	52993190	52993190	+	Silent	SNP	G	G	A	rs575787885		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr6:52993190G>A	ENST00000259803.7	-	6	1336	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	375					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GAGACTGGACGTAGCTGTTAA	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		18521	0.0		0.0	False		,,,				2504	0.001					ENST00000259803.7																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24						c.(1123-1125)taC>taT		glial cells missing homolog 1 (Drosophila)							182.0	182.0	182.0					6																	52993190		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993190G>A	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1125C>T	6.37:g.52993190G>A							p.Y375Y	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN			6	1336	-	Lung NSC(77;0.0755)		375					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.1125C>T	CCDS4950.1																																																																																				0.483	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			5	186	0	0	0	1	0	5	186				
FUBP1	8880	broad.mit.edu	37	1	78430773	78430773	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:78430773C>A	ENST00000370768.2	-	8	697	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	FUBP1_ENST00000370767.1_Nonsense_Mutation_p.E206*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E227*	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	206	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTAATAGTTTCTCCCCCTTTT	0.393			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(616-618)Gaa>Taa		far upstream element (FUSE) binding protein 1							182.0	183.0	183.0					1																	78430773		2203	4300	6503	SO:0001587	stop_gained	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78430773C>A	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.616G>T	1.37:g.78430773C>A	ENSP00000359804:p.Glu206*					FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E206*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E227*	p.E206*			Q96AE4	FUBP1_HUMAN			8	703	-			206			KH 2.		Q12828	Nonsense_Mutation	SNP	ENST00000370768.2	37	c.616G>T	CCDS683.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629714	0.87660	.	.	ENSG00000162613	ENST00000370773;ENST00000370767;ENST00000370768;ENST00000394922;ENST00000436586;ENST00000421641	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-14.9192	19.9468	0.97185	0.0:1.0:0.0:0.0	.	.	.	.	X	205;206;206;205;227;226	.	ENSP00000294623:E205X	E	-	1	0	FUBP1	78203361	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.776000	0.85560	2.784000	0.95788	0.650000	0.86243	GAA		0.393	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		105	29	1	0	3.41453e-61	1	3.69138e-61	105	29				
LRRC3	81543	broad.mit.edu	37	21	45876870	45876870	+	Silent	SNP	C	C	T	rs138458454		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:45876870C>T	ENST00000291592.4	+	2	660	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	LRRC3-AS1_ENST00000426578.1_RNA|LRRC3DN_ENST00000596691.1_5'Flank	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	115						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCCGGGGGCCTGCGGCTGCT	0.672																																						ENST00000291592.4																			0				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						c.(343-345)Ctg>Ttg		leucine rich repeat containing 3		C		0,4370		0,0,2185	26.0	30.0	28.0		343	3.9	1.0	21	dbSNP_134	28	1,8525		0,1,4262	no	coding-synonymous	LRRC3	NM_030891.3		0,1,6447	TT,TC,CC		0.0117,0.0,0.0078		115/258	45876870	1,12895	2185	4263	6448	SO:0001819	synonymous_variant	81543					integral to membrane	protein binding	g.chr21:45876870C>T	AB058646	CCDS13711.1	21q22.3	2011-12-07	2002-06-20		ENSG00000160233	ENSG00000160233			14965	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 102"""	C21orf102		12036297	Standard	NM_030891		Approved		uc002zfa.3	Q9BY71	OTTHUMG00000040847	ENST00000291592.4:c.343C>T	21.37:g.45876870C>T							p.L115L	NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)	2	660	+		Breast(209;0.00908)	115					Q0VDJ2	Silent	SNP	ENST00000291592.4	37	c.343C>T	CCDS13711.1																																																																																				0.672	LRRC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098095.3			4	49	0	0	0	1	0	4	49				
NAB2	4665	broad.mit.edu	37	12	57485439	57485439	+	Silent	SNP	G	G	C			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:57485439G>C	ENST00000300131.3	+	2	993	c.615G>C	c.(613-615)tcG>tcC	p.S205S	NAB2_ENST00000342556.6_Silent_p.S205S|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.S205S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	205					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCTGGCTCGCCCCCCTTCT	0.726																																						ENST00000300131.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(613-615)tcG>tcC		NGFI-A binding protein 2 (EGR1 binding protein 2)							12.0	17.0	15.0					12																	57485439		2194	4280	6474	SO:0001819	synonymous_variant	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485439G>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.615G>C	12.37:g.57485439G>C						NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Silent_p.S205S|NAB2_ENST00000342556.6_Silent_p.S205S	p.S205S	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN			2	993	+			205					B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	c.615G>C	CCDS8930.1																																																																																				0.726	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967		4	11	0	0	0	1	0	4	11				
CHRNA3	1136	broad.mit.edu	37	15	78894483	78894483	+	Silent	SNP	C	C	T	rs577413653		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr15:78894483C>T	ENST00000326828.5	-	5	885	c.501G>A	c.(499-501)ccG>ccA	p.P167P	CHRNA3_ENST00000348639.3_Silent_p.P167P	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	167					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GGTAATCAAACGGGAAGTAGG	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19157	0.0		0.0	False		,,,				2504	0.0					ENST00000326828.5																			0				central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(499-501)ccG>ccA		cholinergic receptor, nicotinic, alpha 3 (neuronal)							169.0	156.0	160.0					15																	78894483		2196	4293	6489	SO:0001819	synonymous_variant	0				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894483C>T		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.501G>A	15.37:g.78894483C>T						CHRNA3_ENST00000348639.3_Silent_p.P167P	p.P167P	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN			5	885	-			167					Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Silent	SNP	ENST00000326828.5	37	c.501G>A	CCDS10305.1																																																																																				0.483	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			28	137	0	0	0	1	0	28	137				
FMN2	56776	broad.mit.edu	37	1	240371421	240371421	+	Silent	SNP	C	C	T			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736																																						ENST00000319653.9																			2	Substitution - coding silent(2)	p.P1246P(2)	prostate(2)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(3307-3309)ccC>ccT		formin 2																																				SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371421C>T	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3309C>T	1.37:g.240371421C>T							p.P1103P	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3539	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1103			FH1.|Pro-rich.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3309C>T	CCDS31069.2																																																																																				0.736	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		5	182	0	0	0	1	0	5	182				
BMPR1A	657	broad.mit.edu	37	10	88681327	88681327	+	Missense_Mutation	SNP	G	G	A	rs587780107		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:88681327G>A	ENST00000372037.3	+	11	1754	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA	406	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|developmental growth (GO:0048589)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic digit morphogenesis (GO:0042733)|embryonic organ development (GO:0048568)|endocardial cushion formation (GO:0003272)|heart formation (GO:0060914)|hindlimb morphogenesis (GO:0035137)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lateral mesoderm development (GO:0048368)|lung development (GO:0030324)|mesendoderm development (GO:0048382)|mesoderm formation (GO:0001707)|Mullerian duct regression (GO:0001880)|negative regulation of neurogenesis (GO:0050768)|neural crest cell development (GO:0014032)|neural plate mediolateral regionalization (GO:0021998)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|paraxial mesoderm structural organization (GO:0048352)|pituitary gland development (GO:0021983)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of lateral mesodermal cell fate specification (GO:0048378)|somitogenesis (GO:0001756)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway (GO:0007179)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GGCACCAAACGCTACATGGCT	0.473			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2																												Ovarian(190;603 2086 22044 30335 47971)	ENST00000372037.2			yes	Rec		Juvenile polyposis	10	10q22.3	657	"""Mis, N, F"""	"""bone morphogenetic protein receptor, type IA"""			E		gastrointestinal polyps			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(1216-1218)cGc>cAc		bone morphogenetic protein receptor, type IA							152.0	143.0	146.0					10																	88681327		2203	4300	6503	SO:0001583	missense	657	Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2	Familial Cancer Database	incl.: Juvenile Polyposis of the Stomach;HMPS2	BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity	g.chr10:88681327G>A	BC028383	CCDS7378.1	10q22.3	2014-09-17			ENSG00000107779	ENSG00000107779		"""CD molecules"""	1076	protein-coding gene	gene with protein product		601299		ACVRLK3		8397373, 9730621	Standard	NM_004329		Approved	ALK3, CD292	uc001kdy.3	P36894	OTTHUMG00000018657	ENST00000372037.3:c.1217G>A	10.37:g.88681327G>A	ENSP00000361107:p.Arg406His						p.R406H	NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN			11	1754	+			406			Protein kinase.		A8K6U9|Q8NEN8	Missense_Mutation	SNP	ENST00000372037.3	37	c.1217G>A	CCDS7378.1	.	.	.	.	.	.	.	.	.	.	G	36	5.671812	0.96754	.	.	ENSG00000107779	ENST00000224764;ENST00000372037	T	0.66638	-0.22	5.63	5.63	0.86233	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81912	0.4923	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.82699	-0.0328	10	0.87932	D	0	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	406	P36894	BMR1A_HUMAN	H	406	ENSP00000361107:R406H	ENSP00000224764:R406H	R	+	2	0	BMPR1A	88671307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.738000	0.98835	2.826000	0.97356	0.655000	0.94253	CGC		0.473	BMPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049170.3	NM_004329		4	157	0	0	0	1	0	4	157				
ADCY10	55811	broad.mit.edu	37	1	167870912	167870912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:167870912G>A	ENST00000367851.4	-	5	608	c.424C>T	c.(424-426)Cga>Tga	p.R142*	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_Nonsense_Mutation_p.R50*	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	142	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATCTTGACTCGGATGTCTAGG	0.463																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(148-150)Cga>Tga		adenylate cyclase 10 (soluble)							170.0	164.0	166.0					1																	167870912		2203	4300	6503	SO:0001587	stop_gained	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167870912G>A	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.424C>T	1.37:g.167870912G>A	ENSP00000356825:p.Arg142*					ADCY10_ENST00000367851.4_Nonsense_Mutation_p.R142*|ADCY10_ENST00000545172.1_Intron	p.R50*			Q96PN6	ADCYA_HUMAN			5	645	-			142			Guanylate cyclase 1.		B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Nonsense_Mutation	SNP	ENST00000367851.4	37	c.148C>T	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613178	0.87359	.	.	ENSG00000143199	ENST00000367851;ENST00000367848	.	.	.	5.76	3.84	0.44239	.	0.270367	0.26983	N	0.021504	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6457	9.3555	0.38164	0.0:0.1576:0.6786:0.1638	.	.	.	.	X	142;50	.	ENSP00000356822:R50X	R	-	1	2	ADCY10	166137536	0.994000	0.37717	0.106000	0.21319	0.087000	0.18053	2.743000	0.47442	0.734000	0.32515	-0.323000	0.08544	CGA		0.463	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		76	84	0	0	0	1	0	76	84				
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Intron	DEL	T	T	-			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr2:38178783delT	ENST00000406384.1	+	2	646				RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000407257.1_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs	NM_001170792.1	NP_001164263.1	Q96LZ7	RMD2_HUMAN	regulator of microtubule dynamics 2							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)											AAGAGTGCCATTTTTTTTGAT	0.333																																						ENST00000407257.1																			0											c.(424-426)atfs		regulator of microtubule dynamics 2							67.0	73.0	71.0					2																	38178783		2195	4296	6491	SO:0001627	intron_variant	151393							g.chr2:38178783delT	AK057516	CCDS1792.1, CCDS54351.1, CCDS54352.1	2p22.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000115841	ENSG00000115841			26567	protein-coding gene	gene with protein product		611872	"""family with sequence similarity 82, member A1"""	FAM82A, FAM82A1		12477932	Standard	XM_005264161		Approved	FLJ32954, RMD2	uc002rqn.2	Q96LZ7	OTTHUMG00000128487	ENST00000406384.1:c.452+21911T>-	2.37:g.38178783delT						RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron	p.I142fs							2	572	+								A9UMZ7|A9UN00|Q4ZG33|Q6UXN4|Q8N657|Q8N9A2|Q8NCV6|Q8NHM0	Frame_Shift_Del	DEL	ENST00000406384.1	37	c.425delT	CCDS54351.1																																																																																				0.333	RMDN2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325577.1	NM_144713		7	56						7	56	---	---	---	---
POLR2J4	84820	broad.mit.edu	37	7	44056176	44056177	+	RNA	DEL	CT	CT	-	rs376381973		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:44056176_44056177delCT	ENST00000427076.1	-	0	89				POLR2J4_ENST00000326391.6_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		TCCTCCCACCCTGAGTCTAAAC	0.559																																						ENST00000427076.1																			0																																																			0							g.chr7:44056176_44056177delCT			7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44056176_44056177delCT								NR_003655.2						0	89	-									RNA	DEL	ENST00000427076.1	37																																																																																						0.559	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473169.1	NR_003655		3	6						3	6	---	---	---	---
LOC101927040	101927040	broad.mit.edu	37	8	80777174	80777174	+	lincRNA	DEL	G	G	-	rs369268558|rs61388927|rs376157001		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr8:80777174delG	ENST00000502766.2	-	0	302																											ggggcagggcggggggggggg	0.592																																						ENST00000502766.2																			0																																																			0							g.chr8:80777174delG																													8.37:g.80777174delG														0	302	-									RNA	DEL	ENST00000502766.2	37																																																																																						0.592	RP11-26J3.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379270.1			2	4						2	4	---	---	---	---
RBM4	5936	broad.mit.edu	37	11	66411034	66411035	+	Frame_Shift_Ins	INS	-	-	CGATAGAT			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:66411034_66411035insCGATAGAT	ENST00000409406.1	+	2	1303_1304	c.526_527insCGATAGAT	c.(526-528)ccgfs	p.-178fs	RBM4_ENST00000503028.2_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.-153fs|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.-153fs|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000310092.7_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4						cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CAAAGAGTGTCCGATAGATCGT	0.579																																						ENST00000409406.1																			0				endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(526-528)gatfs		RNA binding motif protein 4																																				SO:0001589	frameshift_variant	5936							g.chr11:66411034_66411035insCGATAGAT	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.527_534dupCGATAGAT	11.37:g.66411035_66411042dupCGATAGAT	ENSP00000386894:p.Asp178fs					RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_Frame_Shift_Ins_p.D176fs|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.D151fs|RBM4_ENST00000408993.2_Frame_Shift_Ins_p.D176fs|RBM4_ENST00000503028.2_Frame_Shift_Ins_p.D176fs|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.D151fs|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron	p.D176fs						Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	2	1303_1304	+								B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Frame_Shift_Ins	INS	ENST00000409406.1	37	c.526_527insCGATAGAT	CCDS41676.1																																																																																				0.579	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		14	81						14	81	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:56056605_56056607delTGC	ENST00000581208.1	-	5	1084_1086	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_ENST00000584396.1_In_Frame_Del_p.339_340QQ>Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	348	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1015-1020)caa>ca		vascular endothelial zinc finger 1																																				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056605_56056607delTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046delGCA	17.37:g.56056614_56056616delTGC	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del	p.QQ343del			Q14119	VEZF1_HUMAN			5	1105_1107	-			352			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1017_1019delGCA	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			9	252						9	252	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42794411	42794411	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:42794411delT	ENST00000575354.2	+	10	1531	c.1491delT	c.(1489-1491)cctfs	p.P497fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.P1406fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.P497fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	497					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGTTTTCACCTGTGATCCGTT	0.617			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4216-4218)ccfs		capicua transcriptional repressor							101.0	96.0	98.0					19																	42794411		2203	4300	6503	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794411delT	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1491delT	19.37:g.42794411delT	ENSP00000458663:p.Pro497fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.P497fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.P497fs	p.P1406fs			Q96RK0	CIC_HUMAN			11	4286	+		Prostate(69;0.00682)	497					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4218delT	CCDS12601.1																																																																																				0.617	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			82	27						82	27	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	428						7	428	---	---	---	---
