#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
ZMIZ2	83637	broad.mit.edu	37	7	44801338	44801338	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr7:44801338G>A	ENST00000309315.4	+	11	1553	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R445Q|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R477Q|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R451Q|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R419Q	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	477	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACGAGGACCGGCAGATGAAC	0.612																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1429-1431)cGg>cAg		Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.							57.0	61.0	60.0					7																	44801338		2203	4300	6503	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44801338G>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1430G>A	7.37:g.44801338G>A	ENSP00000311778:p.Arg477Gln					ZMIZ2_uc003tlq.3_Missense_Mutation_p.R419Q|ZMIZ2_uc003tls.3_Missense_Mutation_p.R451Q|ZMIZ2_uc003tlt.3_Missense_Mutation_p.R100Q|ZMIZ2_uc010kyj.3_5'UTR	p.R477Q	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			10	1553	+			477			Interaction with AR.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1430G>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	G	37	6.209731	0.97380	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	4.73	4.73	0.59995	.	0.000000	0.56097	D	0.000039	T	0.63954	0.2555	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.966;0.987	T	0.64659	-0.6355	10	0.44086	T	0.13	-16.8339	17.4928	0.87709	0.0:0.0:1.0:0.0	.	451;477;419	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	Q	419;477;477;445;451;477	ENSP00000409648:R419Q;ENSP00000311778:R477Q;ENSP00000414723:R477Q;ENSP00000396601:R445Q;ENSP00000265346:R451Q	ENSP00000265346:R451Q	R	+	2	0	ZMIZ2	44767863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.131000	0.94446	2.444000	0.82710	0.655000	0.94253	CGG		0.612	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		16	17	0	0	0	1	0	16	17				
FUT3	2525	broad.mit.edu	37	19	5844400	5844400	+	Missense_Mutation	SNP	T	T	C	rs417341	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr19:5844400T>C	ENST00000303225.6	-	3	1085	c.451A>G	c.(451-453)Aga>Gga	p.R151G	FUT3_ENST00000589620.1_Missense_Mutation_p.R151G|FUT3_ENST00000458379.2_Missense_Mutation_p.R151G|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.R151G	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	151					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTGAAGTATCTGTCCAGGGCT	0.642													T|||	11	0.00219649	0.0061	0.0014	5008	,	,		14700	0.002		0.0	False		,,,				2504	0.0				Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						c.(451-453)Aga>Gga		Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.		T	GLY/ARG,GLY/ARG,GLY/ARG,GLY/ARG	35,4371	40.0+/-72.8	0,35,2168	68.0	62.0	64.0		451,451,451,451	-0.1	0.1	19	dbSNP_80	64	0,8600		0,0,4300	yes	missense,missense,missense,missense	FUT3	NM_000149.3,NM_001097639.1,NM_001097640.1,NM_001097641.1	125,125,125,125	0,35,6468	CC,CT,TT		0.0,0.7944,0.2691	benign,benign,benign,benign	151/362,151/362,151/362,151/362	5844400	35,12971	2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844400T>C		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.451A>G	19.37:g.5844400T>C	ENSP00000305603:p.Arg151Gly					FUT3_uc002mdm.2_Missense_Mutation_p.R151G|FUT3_uc002mdj.2_Missense_Mutation_p.R151G|FUT3_uc002mdl.2_Missense_Mutation_p.R151G|FUT3_uc021unn.1_Missense_Mutation_p.R151G	p.R151G	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			1	548	-			151					B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.451A>G	CCDS12153.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	T	0.001	-3.133225	0.00030	0.007944	0.0	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.25579	1.79;1.79	2.24	-0.0815	0.13702	.	0.613784	0.14038	N	0.345642	T	0.02047	0.0064	N	0.00054	-2.38	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.42498	-0.9448	10	0.06625	T	0.88	.	4.5324	0.12011	0.0:0.4765:0.0:0.5235	rs417341;rs2561801;rs417341	151;151;151;151	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	G	151	ENSP00000305603:R151G;ENSP00000416443:R151G	ENSP00000305603:R151G	R	-	1	2	FUT3	5795400	0.000000	0.05858	0.072000	0.20136	0.088000	0.18126	-0.920000	0.04013	0.208000	0.20626	-1.216000	0.01612	AGA		0.642	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		14	56	0	0	0	1	0	14	56				
CCDC105	126402	broad.mit.edu	37	19	15132292	15132292	+	Silent	SNP	C	C	T			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr19:15132292C>T	ENST00000292574.3	+	4	1084	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	334						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTGTGTGTGCCTCGCTGGCGC	0.622																																						uc002nae.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(1000-1002)gcC>gcT		Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.							98.0	67.0	78.0					19																	15132292		2203	4300	6503	SO:0001819	synonymous_variant	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15132292C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.1002C>T	19.37:g.15132292C>T							p.A334A	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			3	1101	+			334					Q8N7T5|Q8NDL5	Silent	SNP	ENST00000292574.3	37	c.1002C>T	CCDS12322.1																																																																																				0.622	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		3	30	0	0	0	1	0	3	30				
GRAMD2	196996	broad.mit.edu	37	15	72454662	72454662	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr15:72454662T>C	ENST00000309731.7	-	11	1026	c.1013A>G	c.(1012-1014)gAg>gGg	p.E338G	GRAMD2_ENST00000564184.1_5'Flank	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	338						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TAACTGCTGCTCTAGCCGAGA	0.488																																						uc002atq.3																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1012-1014)gAg>gGg		Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.							87.0	80.0	83.0					15																	72454662		2199	4297	6496	SO:0001583	missense	196996					integral to membrane		g.chr15:72454662T>C	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.1013A>G	15.37:g.72454662T>C	ENSP00000311657:p.Glu338Gly					GRAMD2_uc010bis.2_Missense_Mutation_p.E338G|GRAMD2_uc010ukh.2_Missense_Mutation_p.E132G	p.E338G	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN			10	1037	-			338					B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	c.1013A>G	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.866427	0.72065	.	.	ENSG00000175318	ENST00000309731	T	0.69040	-0.37	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	L	0.61218	1.895	0.51482	D	0.999923	D	0.89917	1.0	D	0.87578	0.998	T	0.80913	-0.1170	10	0.87932	D	0	.	12.5847	0.56410	0.0:0.0:0.0:1.0	.	338	Q8IUY3	GRAM2_HUMAN	G	338	ENSP00000311657:E338G	ENSP00000311657:E338G	E	-	2	0	GRAMD2	70241716	1.000000	0.71417	0.956000	0.39512	0.435000	0.31806	6.284000	0.72652	1.983000	0.57843	0.460000	0.39030	GAG		0.488	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642		11	33	0	0	0	1	0	11	33				
SPECC1	92521	broad.mit.edu	37	17	20013740	20013740	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr17:20013740C>A	ENST00000261503.5	+	3	199	c.148C>A	c.(148-150)Ctc>Atc	p.L50I	SPECC1_ENST00000395527.4_Splice_Site_p.L50I|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Splice_Site_p.L50I	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	50					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ACTCTCTCAGCTCAAGAGGGC	0.572																																						uc002gwq.3																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.e3-1		Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.							90.0	92.0	92.0					17																	20013740		2203	4300	6503	SO:0001630	splice_region_variant	92521					nucleus		g.chr17:20013740C>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.148-1C>A	17.37:g.20013740C>A						SPECC1_uc010cqx.3_Splice_Site_p.L50_splice|SPECC1_uc002gwr.3_Splice_Site_p.L50_splice|SPECC1_uc002gws.3_Splice_Site_p.L50_splice	p.L50_splice	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	3	258	+			50					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Splice_Site	SNP	ENST00000261503.5	37	c.148_splice	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	17.03	3.284741	0.59867	.	.	ENSG00000128487	ENST00000395530;ENST00000413167;ENST00000261503;ENST00000395529	T;T	0.65916	-0.18;2.8	5.29	5.29	0.74685	.	0.092570	0.44688	D	0.000425	T	0.72732	0.3497	L	0.43152	1.355	0.80722	D	1	D;P	0.71674	0.998;0.825	D;B	0.83275	0.996;0.299	T	0.70004	-0.4991	9	.	.	.	-12.3568	16.802	0.85617	0.0:1.0:0.0:0.0	.	50;50	Q5M775-2;Q5M775	.;CYTSB_HUMAN	I	50	ENSP00000261503:L50I;ENSP00000378900:L50I	.	L	+	1	0	SPECC1	19954332	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.763000	0.62257	2.647000	0.89833	0.655000	0.94253	CTC		0.572	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	Missense_Mutation	17	51	0	0	0	1	0	17	51				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												uc009wgu.3	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524	NP_002515	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	436	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		31	46	0	0	0	1	0	31	46				
CD93	22918	broad.mit.edu	37	20	23065236	23065236	+	Missense_Mutation	SNP	G	G	C	rs372540092		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr20:23065236G>C	ENST00000246006.4	-	1	1741	c.1594C>G	c.(1594-1596)Ctc>Gtc	p.L532V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	532					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCATCTTGAGTGGGGCAGAT	0.662																																						uc002wsv.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1594-1596)Ctc>Gtc		Homo sapiens CD93 molecule (CD93), mRNA.							45.0	52.0	50.0					20																	23065236		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065236G>C	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1594C>G	20.37:g.23065236G>C	ENSP00000246006:p.Leu532Val						p.L532V	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			0	1742	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		532					O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1594C>G	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	3.681	-0.065621	0.07273	.	.	ENSG00000125810	ENST00000246006	T	0.80214	-1.35	5.59	1.36	0.22044	.	1.037860	0.07629	N	0.928371	T	0.66886	0.2835	L	0.34521	1.04	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.48186	-0.9057	10	0.13853	T	0.58	-1.8619	4.7572	0.13090	0.2105:0.0:0.5355:0.2541	.	532	Q9NPY3	C1QR1_HUMAN	V	532	ENSP00000246006:L532V	ENSP00000246006:L532V	L	-	1	0	CD93	23013236	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.277000	0.18734	0.299000	0.22661	-0.137000	0.14449	CTC		0.662	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		21	59	0	0	0	1	0	21	59				
TG	7038	broad.mit.edu	37	8	133919035	133919035	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr8:133919035A>C	ENST00000220616.4	+	17	3777	c.3737A>C	c.(3736-3738)cAa>cCa	p.Q1246P	TG_ENST00000377869.1_Missense_Mutation_p.Q1246P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1246					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCAGTGCCAATTGCTGTGC	0.632																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3736-3738)cAa>cCa		Homo sapiens thyroglobulin (TG), mRNA.							65.0	56.0	59.0					8																	133919035		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133919035A>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3737A>C	8.37:g.133919035A>C	ENSP00000220616:p.Gln1246Pro					TG_uc010mdw.3_Missense_Mutation_p.Q5P	p.Q1246P	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	16	3778	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1246					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3737A>C	CCDS34944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.899|9.899	1.206274|1.206274	0.22205|0.22205	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000518505|ENST00000377869;ENST00000543313;ENST00000220616	.|T;T	.|0.65549	.|-0.16;-0.15	5.48|5.48	-4.43|-4.43	0.03568|0.03568	.|.	.|0.542430	.|0.17260	.|N	.|0.180827	T|T	0.46964|0.46964	0.1420|0.1420	L|L	0.59436|0.59436	1.845|1.845	0.24681|0.24681	N|N	0.99337|0.99337	.|P	.|0.37955	.|0.612	.|B	.|0.34722	.|0.188	T|T	0.42464|0.42464	-0.9450|-0.9450	5|10	.|0.87932	.|D	.|0	.|.	4.713|4.713	0.12882|0.12882	0.3416:0.0:0.3927:0.2657|0.3416:0.0:0.3927:0.2657	.|.	.|1246	.|P01266	.|THYG_HUMAN	H|P	190|1246;52;1246	.|ENSP00000367100:Q1246P;ENSP00000220616:Q1246P	.|ENSP00000220616:Q1246P	N|Q	+|+	1|2	0|0	TG|TG	133988217|133988217	0.054000|0.054000	0.20591|0.20591	0.872000|0.872000	0.34217|0.34217	0.033000|0.033000	0.12548|0.12548	-0.627000|-0.627000	0.05521|0.05521	-0.851000|-0.851000	0.04147|0.04147	-1.054000|-1.054000	0.02325|0.02325	AAT|CAA		0.632	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		10	28	0	0	0	1	0	10	28				
EEF1A1	1915	broad.mit.edu	37	6	74228523	74228523	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr6:74228523T>C	ENST00000316292.9	-	4	1661	c.670A>G	c.(670-672)Agt>Ggt	p.S224G	EEF1A1_ENST00000309268.6_Missense_Mutation_p.S224G|EEF1A1_ENST00000331523.2_Missense_Mutation_p.S224G|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	224	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGGTTCCACTGGCATTGCCA	0.517											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003phi.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						c.(670-672)Agt>Ggt		Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.							105.0	97.0	99.0					6																	74228523		2203	4297	6500	SO:0001583	missense	1915					cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr6:74228523T>C	BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.670A>G	6.37:g.74228523T>C	ENSP00000339063:p.Ser224Gly		OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1151	EEF1A1_uc003phj.3_Missense_Mutation_p.S224G|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	p.S224G	NM_001402	NP_001393	P68104	EF1A1_HUMAN			3	1662	-			224					P04719|P04720|Q6IQ15	Missense_Mutation	SNP	ENST00000316292.9	37	c.670A>G	CCDS4980.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.177470	0.38413	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.46063	0.88;0.88;0.88	4.31	4.31	0.51392	Protein synthesis factor, GTP-binding (2);	0.264000	0.36374	U	0.002624	T	0.18964	0.0455	L	0.31664	0.95	0.53005	D	0.99996	B;B;B;B	0.09022	0.001;0.002;0.001;0.002	B;B;B;B	0.06405	0.001;0.001;0.001;0.002	T	0.09037	-1.0693	10	0.62326	D	0.03	.	13.8286	0.63366	0.0:0.0:0.0:1.0	.	224;224;224;224	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	G	224;224;224;224;203	ENSP00000339063:S224G;ENSP00000339053:S224G;ENSP00000330054:S224G	ENSP00000339053:S224G	S	-	1	0	EEF1A1	74285244	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.725000	0.54970	1.719000	0.51432	0.449000	0.29647	AGT		0.517	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041210.2	NM_001402		17	24	0	0	0	1	0	17	24				
CACNA2D1	781	broad.mit.edu	37	7	81596976	81596977	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr7:81596976_81596977delAC	ENST00000356253.5	-	30	2689_2690	c.2434_2435delGT	c.(2434-2436)gttfs	p.V812fs	CACNA2D1_ENST00000356860.3_Frame_Shift_Del_p.V800fs|CACNA2D1_ENST00000535308.1_Frame_Shift_Del_p.V12fs			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	812					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TTTAATTCCAACAACTGAAAAA	0.262																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(2398-2400)gttfs		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)																																			SO:0001589	frameshift_variant	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81596976_81596977delAC	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2434_2435delGT	7.37:g.81596976_81596977delAC	ENSP00000348589:p.Val812fs					CACNA2D1_uc011kgy.1_Frame_Shift_Del_p.V12fs	p.V800fs	NM_000722	NP_000713	P54289	CA2D1_HUMAN			29	2654_2655	-			812					Q17R45|Q9UD80|Q9UD81|Q9UD82	Frame_Shift_Del	DEL	ENST00000356253.5	37	c.2398_2399delGT																																																																																					0.262	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				2	4						2	4	---	---	---	---
