#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HP1BP3	50809	broad.mit.edu	37	1	21083722	21083722	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:21083722C>A	ENST00000312239.5	-	9	1057	c.918G>T	c.(916-918)caG>caT	p.Q306H	HP1BP3_ENST00000375003.2_Missense_Mutation_p.Q154H	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	306	H15 2. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CTACTGCTCTCTGCAGAGCGT	0.418																																						ENST00000375003.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16						c.(460-462)caG>caT		heterochromatin protein 1, binding protein 3							76.0	74.0	75.0					1																	21083722		2203	4300	6503	SO:0001583	missense	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21083722C>A	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.918G>T	1.37:g.21083722C>A	ENSP00000312625:p.Gln306His		Somatic				HP1BP3_ENST00000312239.5_Missense_Mutation_p.Q306H	p.Q154H			WXS	Illumina GAIIx	Phase_I	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	5	1962	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	306					A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Missense_Mutation	SNP	ENST00000312239.5	37	c.462G>T	CCDS30621.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.334969	0.41398	.	.	ENSG00000127483	ENST00000312239;ENST00000375004;ENST00000375003;ENST00000419948;ENST00000438032;ENST00000424732	T;T;T;T;T	0.23348	1.96;1.96;1.96;1.96;1.91	5.87	4.01	0.46588	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.219820	0.47455	D	0.000228	T	0.21468	0.0517	L	0.33485	1.01	0.80722	D	1	B;B	0.13145	0.006;0.007	B;B	0.18871	0.012;0.023	T	0.03212	-1.1060	10	0.72032	D	0.01	-2.6577	12.6304	0.56655	0.0:0.8656:0.0:0.1344	.	268;306	Q5SSJ5-2;Q5SSJ5	.;HP1B3_HUMAN	H	306;268;154;165;306;268	ENSP00000312625:Q306H;ENSP00000364142:Q154H;ENSP00000391721:Q165H;ENSP00000403039:Q306H;ENSP00000402754:Q268H	ENSP00000312625:Q306H	Q	-	3	2	HP1BP3	20956309	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.800000	0.47900	0.831000	0.34780	0.585000	0.79938	CAG		0.418	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287		3	72	3	72	---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94032967	94032967	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr1:94032967G>A	ENST00000370244.1	-	13	2456	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I	BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I|BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	723	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCCTTCAAAAGTCACAGCCTG	0.502																																						ENST00000370244.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25						c.(2167-2169)aCt>aTt		breast cancer anti-estrogen resistance 3							142.0	128.0	133.0					1																	94032967		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94032967G>A	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2168C>T	1.37:g.94032967G>A	ENSP00000359264:p.Thr723Ile		Somatic				BCAR3_ENST00000539242.1_Missense_Mutation_p.T399I|BCAR3_ENST00000370243.1_Missense_Mutation_p.T723I|BCAR3_ENST00000370247.3_Missense_Mutation_p.T632I|BCAR3_ENST00000260502.6_Missense_Mutation_p.T723I	p.T723I	NM_001261408.1	NP_001248337.1	WXS	Illumina GAIIx	Phase_I	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	13	2456	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	723			Ras-GEF.		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.2168C>T	CCDS745.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943706	0.34283	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.85	3.01	0.34805	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.441828	0.27266	N	0.020152	T	0.05868	0.0153	N	0.17674	0.51	0.28398	N	0.918778	B;B	0.23854	0.092;0.015	B;B	0.20955	0.032;0.016	T	0.38329	-0.9666	10	0.21540	T	0.41	-24.1593	7.5338	0.27697	0.4417:0.0:0.5583:0.0	.	723;632	O75815;Q5TEW3	BCAR3_HUMAN;.	I	632;723;723;723;399	ENSP00000359267:T632I;ENSP00000260502:T723I;ENSP00000359264:T723I;ENSP00000359263:T723I;ENSP00000441343:T399I	ENSP00000260502:T723I	T	-	2	0	BCAR3	93805555	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	2.340000	0.43974	0.406000	0.25560	-0.122000	0.15005	ACT		0.502	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			27	22	27	22	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53785827	53785827	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr3:53785827C>G	ENST00000350061.5	+	28	4079	c.3568C>G	c.(3568-3570)Ccc>Gcc	p.P1190A	CACNA1D_ENST00000288139.4_Missense_Mutation_p.P1210A|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1190					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGATACATCCCCAAAAACCC	0.502																																						ENST00000288139.4																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(3628-3630)Ccc>Gcc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						236.0	202.0	213.0					3																	53785827		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53785827C>G	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3568C>G	3.37:g.53785827C>G	ENSP00000288133:p.Pro1190Ala		Somatic				CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1190A|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P97A|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1190A	p.P1210A	NM_000720.2	NP_000711.1	WXS	Illumina GAIIx	Phase_I	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	29	3746	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3628C>G	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067819	0.93950	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97906	-4.39;-4.44;-4.42;-4.4;-4.6	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.99257	0.9741	H	0.96080	3.765	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.983;1.0;0.996;0.987;1.0	D	0.98871	1.0766	10	0.87932	D	0	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1190;97;883;1190;1210	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	A	1190;1210;1190;883;97	ENSP00000288133:P1190A;ENSP00000288139:P1210A;ENSP00000409174:P1190A;ENSP00000418014:P883A;ENSP00000438229:P97A	ENSP00000288139:P1210A	P	+	1	0	CACNA1D	53760867	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.804000	0.96469	0.655000	0.94253	CCC		0.502	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		5	137	5	137	---	---	---	---
INSIG1	3638	broad.mit.edu	37	7	155094516	155094516	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr7:155094516G>A	ENST00000340368.4	+	5	975	c.764G>A	c.(763-765)gGa>gAa	p.G255E	INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	255					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTTCTCAGGAGGCGTCACG	0.408																																						ENST00000340368.4																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19						c.(763-765)gGa>gAa		insulin induced gene 1							186.0	180.0	182.0					7																	155094516		2203	4300	6503	SO:0001583	missense	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155094516G>A		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.764G>A	7.37:g.155094516G>A	ENSP00000344741:p.Gly255Glu		Somatic				INSIG1_ENST00000344756.4_Missense_Mutation_p.G103E|INSIG1_ENST00000342407.5_Missense_Mutation_p.E158K	p.G255E	NM_005542.4	NP_005533.2	WXS	Illumina GAIIx	Phase_I	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	975	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	255					A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	c.764G>A	CCDS5938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.352321|5.352321	0.95830|0.95830	.|.	.|.	ENSG00000186480|ENSG00000186480	ENST00000342407|ENST00000340368;ENST00000344756	T|T;T	0.48201|0.59083	0.82|0.35;0.29	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.102264	.|0.64402	.|D	.|0.000002	T|T	0.79240|0.79240	0.4412|0.4412	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	P|D;D	0.46395|0.89917	0.877|1.0;1.0	B|D;D	0.43360|0.97110	0.417|0.996;1.0	T|T	0.82307|0.82307	-0.0522|-0.0522	9|10	0.87932|0.87932	D|D	0|0	.|.	19.0723|19.0723	0.93145|0.93145	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	158|103;255	A4D2N1|F5H6P3;O15503	.|.;INSI1_HUMAN	K|E	158|255;103	ENSP00000344035:E158K|ENSP00000344741:G255E;ENSP00000340010:G103E	ENSP00000344035:E158K|ENSP00000344741:G255E	E|G	+|+	1|2	0|0	INSIG1|INSIG1	154725451|154725451	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.983000|0.983000	0.72400|0.72400	9.451000|9.451000	0.97610|0.97610	2.579000|2.579000	0.87056|0.87056	0.650000|0.650000	0.86243|0.86243	GAG|GGA		0.408	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		6	96	6	96	---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116356449	116356449	+	Intron	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr9:116356449G>T	ENST00000374140.2	+	23	3289				RGS3_ENST00000374134.3_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462403.1_Missense_Mutation_p.A84S|RGS3_ENST00000350696.5_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTGGCTGCAGCCTGCACCGT	0.677																																						ENST00000462403.1																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(250-252)Gcc>Tcc		regulator of G-protein signaling 3							49.0	55.0	53.0					9																	116356449		2203	4298	6501	SO:0001627	intron_variant	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116356449G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3081-261G>T	9.37:g.116356449G>T			Somatic				RGS3_ENST00000343817.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron|RGS3_ENST00000374140.2_Intron	p.A84S	NM_144489.2	NP_652760.2	WXS	Illumina GAIIx	Phase_I	P49796	RGS3_HUMAN			1	684	+			0					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.250G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629434	0.46944	.	.	ENSG00000138835	ENST00000462403	T	0.60548	0.18	5.02	3.02	0.34903	.	.	.	.	.	T	0.34513	0.0900	N	0.08118	0	0.19575	N	0.999962	B	0.10296	0.003	B	0.06405	0.002	T	0.18398	-1.0338	9	0.40728	T	0.16	.	7.57	0.27902	0.0:0.183:0.6276:0.1894	.	84	Q5VZ06	.	S	84	ENSP00000436168:A84S	ENSP00000436168:A84S	A	+	1	0	RGS3	115396270	0.004000	0.15560	0.009000	0.14445	0.526000	0.34562	0.747000	0.26290	1.078000	0.41014	0.558000	0.71614	GCC		0.677	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		19	41	19	41	---	---	---	---
ZNF215	7762	broad.mit.edu	37	11	6977301	6977301	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:6977301A>C	ENST00000278319.5	+	7	1681	c.1093A>C	c.(1093-1095)Aca>Cca	p.T365P	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	365					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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAGTTTGAGTACAGATATTCG	0.333																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1093-1095)Aca>Cca		zinc finger protein 215							60.0	60.0	60.0					11																	6977301		2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977301A>C	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1093A>C	11.37:g.6977301A>C	ENSP00000278319:p.Thr365Pro		Somatic				ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T365P|ZNF215_ENST00000527171.1_3'UTR	p.T365P	NM_013250.2	NP_037382.2	WXS	Illumina GAIIx	Phase_I	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1681	+			365					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1093A>C	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.192454	0.38707	.	.	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.15603	2.41;2.41	4.55	-2.82	0.05787	.	0.692910	0.12597	N	0.455087	T	0.06917	0.0176	N	0.08118	0	0.09310	N	1	P	0.45283	0.855	B	0.41571	0.36	T	0.24048	-1.0171	10	0.72032	D	0.01	.	3.1456	0.06471	0.3431:0.0:0.19:0.4669	.	365	Q9UL58	ZN215_HUMAN	P	365	ENSP00000278319:T365P;ENSP00000393202:T365P	ENSP00000278319:T365P	T	+	1	0	ZNF215	6933877	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.147000	0.10234	-0.241000	0.09681	0.533000	0.62120	ACA		0.333	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			22	34	22	34	---	---	---	---
CEP57	9702	broad.mit.edu	37	11	95561040	95561040	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr11:95561040G>T	ENST00000325542.5	+	9	1214	c.976G>T	c.(976-978)Gtc>Ttc	p.V326F	CEP57_ENST00000541150.1_Missense_Mutation_p.V317F|CEP57_ENST00000325486.5_Missense_Mutation_p.V300F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	326	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAATGATCGAGTCATCAACAG	0.443									Mosaic Variegated Aneuploidy Syndrome																													ENST00000325542.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						c.(976-978)Gtc>Ttc		centrosomal protein 57kDa							170.0	158.0	162.0					11																	95561040		2201	4298	6499	SO:0001583	missense	9702	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity	g.chr11:95561040G>T	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.976G>T	11.37:g.95561040G>T	ENSP00000317902:p.Val326Phe		Somatic				CEP57_ENST00000325486.5_Missense_Mutation_p.V300F|CEP57_ENST00000537677.1_Missense_Mutation_p.V299F|CEP57_ENST00000541150.1_Missense_Mutation_p.V317F	p.V326F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	WXS	Illumina GAIIx	Phase_I	Q86XR8	CEP57_HUMAN			9	1214	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	326			Mediates interaction with microtubules (By similarity).		A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	c.976G>T	CCDS8304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.376613|3.376613	0.61735|0.61735	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000535224|ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150;ENST00000537093	.|T;T;T;T;T	.|0.52754	.|1.24;1.22;1.19;1.22;0.65	5.85|5.85	5.85|5.85	0.93711|0.93711	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.70605|0.70605	0.3243|0.3243	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;0.999	.|D;D;D	.|0.87578	.|0.998;0.977;0.996	T|T	0.71692|0.71692	-0.4516|-0.4516	5|10	.|0.87932	.|D	.|0	-6.7638|-6.7638	20.1699|20.1699	0.98157|0.98157	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317;300;326	.|F5H5F7;Q86XR8-2;Q86XR8	.|.;.;CEP57_HUMAN	I|F	115|299;326;300;317;85	.|ENSP00000441392:V299F;ENSP00000317902:V326F;ENSP00000317487:V300F;ENSP00000443436:V317F;ENSP00000444749:V85F	.|ENSP00000317487:V300F	S|V	+|+	2|1	0|0	CEP57|CEP57	95200688|95200688	1.000000|1.000000	0.71417|0.71417	0.248000|0.248000	0.24265|0.24265	0.059000|0.059000	0.15707|0.15707	6.259000|6.259000	0.72494|0.72494	2.775000|2.775000	0.95449|0.95449	0.467000|0.467000	0.42956|0.42956	AGT|GTC		0.443	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1	NM_014679		26	45	26	45	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26780982	26780982	+	Silent	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr12:26780982G>A	ENST00000381340.3	-	23	3464	c.3048C>T	c.(3046-3048)gaC>gaT	p.D1016D	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'UTR	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1016					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTAGTAAAGTGTCTGGAGATC	0.333																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(3046-3048)gaC>gaT		inositol 1,4,5-trisphosphate receptor, type 2							239.0	229.0	232.0					12																	26780982		1854	4097	5951	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26780982G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3048C>T	12.37:g.26780982G>A			Somatic				ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	p.D1016D	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			23	3464	-	Colorectal(261;0.0847)		1016					O94773	Silent	SNP	ENST00000381340.3	37	c.3048C>T	CCDS41764.1																																																																																				0.333	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		81	102	81	102	---	---	---	---
ARMC5	79798	broad.mit.edu	37	16	31476480	31476480	+	Intron	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:31476480G>T	ENST00000563544.1	+	5	2410				ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000457010.2_Silent_p.L712L			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5											central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GGGCTGGTCTGTGCTTCTTTC	0.622																																						ENST00000457010.2																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2134-2136)ctG>ctT		armadillo repeat containing 5							48.0	54.0	52.0					16																	31476480		2154	4270	6424	SO:0001627	intron_variant	79798						binding	g.chr16:31476480G>T	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1864+272G>T	16.37:g.31476480G>T			Somatic				ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000538189.1_Intron	p.L712L	NM_024742.2	NP_079018.1	WXS	Illumina GAIIx	Phase_I	Q96C12	ARMC5_HUMAN			4	2837	+			0					Q86WM9|Q9H7P8|Q9H925	Silent	SNP	ENST00000563544.1	37	c.2136G>T	CCDS45472.1																																																																																				0.622	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		8	7	8	7	---	---	---	---
CNGB1	1258	broad.mit.edu	37	16	57921842	57921842	+	Missense_Mutation	SNP	C	C	T	rs373477921		TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr16:57921842C>T	ENST00000251102.8	-	32	3439	c.3379G>A	c.(3379-3381)Ggc>Agc	p.G1127S	CNGB1_ENST00000564448.1_Missense_Mutation_p.G1121S	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1127					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAAGTTTGCCGCCTTTTGCC	0.612																																					Colon(156;1293 1853 16336 28962 38659)	ENST00000564448.1																			0				breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						c.(3361-3363)Ggc>Agc		cyclic nucleotide gated channel beta 1		C	SER/GLY	0,3894		0,0,1947	93.0	98.0	97.0		3379	5.3	1.0	16		97	1,8277		0,1,4138	no	missense	CNGB1	NM_001297.4	56	0,1,6085	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	1127/1252	57921842	1,12171	1947	4139	6086	SO:0001583	missense	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57921842C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.3379G>A	16.37:g.57921842C>T	ENSP00000251102:p.Gly1127Ser		Somatic				CNGB1_ENST00000251102.8_Missense_Mutation_p.G1127S	p.G1121S			WXS	Illumina GAIIx	Phase_I	Q14028	CNGB1_HUMAN			32	3421	-			1127					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	ENST00000251102.8	37	c.3361G>A	CCDS42169.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.859370	0.51376	0.0	1.21E-4	ENSG00000070729	ENST00000251102	D	0.96830	-4.14	5.34	5.34	0.76211	.	0.169139	0.37053	N	0.002266	D	0.95297	0.8474	M	0.63428	1.95	0.80722	D	1	D;D	0.61697	0.99;0.983	P;P	0.50825	0.651;0.449	D	0.93224	0.6611	10	0.33940	T	0.23	.	7.1491	0.25599	0.1716:0.742:0.0:0.0864	.	499;1127	Q14028-2;Q14028	.;CNGB1_HUMAN	S	1127	ENSP00000251102:G1127S	ENSP00000251102:G1127S	G	-	1	0	CNGB1	56479343	0.967000	0.33354	1.000000	0.80357	0.132000	0.20833	2.271000	0.43364	2.503000	0.84419	0.467000	0.42956	GGC		0.612	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		29	50	29	50	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577514	7577514	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:7577514G>A	ENST00000269305.4	-	7	956	c.767C>T	c.(766-768)aCa>aTa	p.T256I	TP53_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000420246.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.T256I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	256	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|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 beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTTCCAGTGTGATGATGGT	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		21	Whole gene deletion(8)|Substitution - Missense(4)|Deletion - In frame(3)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Unknown(1)	p.0?(8)|p.T256I(2)|p.T256K(2)|p.?(1)|p.T256fs*8(1)|p.I254fs*7(1)|p.T256fs*90(1)|p.T256fs*89(1)|p.T256del(1)|p.R249_T256delRPILTIIT(1)|p.T256fs*87(1)|p.I254_T256del(1)	ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)|kidney(1)|skin(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM951232	TP53	M		c.(766-768)aCa>aTa	Other conserved DNA damage response genes	tumor protein p53							144.0	103.0	117.0					17																	7577514		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577514G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.767C>T	17.37:g.7577514G>A	ENSP00000269305:p.Thr256Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic				TP53_ENST00000413465.2_Missense_Mutation_p.T256I|TP53_ENST00000445888.2_Missense_Mutation_p.T256I|TP53_ENST00000269305.4_Missense_Mutation_p.T256I|TP53_ENST00000359597.4_Missense_Mutation_p.T256I|TP53_ENST00000455263.2_Missense_Mutation_p.T256I	p.T256I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina GAIIx	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	899	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	256		T -> I (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.767C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135670	0.56828	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050722	0.85682	D	0.000000	D	0.99768	0.9905	M	0.86028	2.79	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.97397	0.9993	10	0.87932	D	0	-15.8677	10.9866	0.47526	0.0922:0.0:0.9078:0.0	.	256;256;256;256;256	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	I	256;256;256;256;256;256;245;124	ENSP00000410739:T256I;ENSP00000352610:T256I;ENSP00000269305:T256I;ENSP00000398846:T256I;ENSP00000391127:T256I;ENSP00000391478:T256I;ENSP00000425104:T124I	ENSP00000269305:T256I	T	-	2	0	TP53	7518239	1.000000	0.71417	0.923000	0.36655	0.398000	0.30690	9.601000	0.98297	1.305000	0.44909	0.462000	0.41574	ACA		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	5	15	5	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62049712	62049712	+	Splice_Site	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr17:62049712G>A	ENST00000435607.1	-	2	468	c.392C>T	c.(391-393)gCg>gTg	p.A131V	CTC-264K15.6_ENST00000577329.1_lincRNA|SCN4A_ENST00000578147.1_Splice_Site_p.A131V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	131					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCAGGATATGCATGGATGAG	0.617																																						ENST00000435607.1																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101						c.(391-393)gCg>gTg		sodium channel, voltage-gated, type IV, alpha subunit	Lamotrigine(DB00555)						52.0	56.0	55.0					17																	62049712		2141	4250	6391	SO:0001630	splice_region_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62049712G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.392+1C>T	17.37:g.62049712G>A			Somatic				SCN4A_ENST00000578147.1_Splice_Site_p.A131V	p.A131V	NM_000334.4	NP_000325.4	WXS	Illumina GAIIx	Phase_I	P35499	SCN4A_HUMAN			2	468	-			131					Q15478|Q16447|Q7Z6B1	Splice_Site	SNP	ENST00000435607.1	37	c.392C>T	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663311	0.47572	.	.	ENSG00000007314	ENST00000435607	D	0.97404	-4.37	4.23	4.23	0.50019	.	4.299410	0.01381	U	0.012927	D	0.92538	0.7630	N	0.03608	-0.345	0.43043	D	0.994631	B	0.06786	0.001	B	0.12837	0.008	T	0.65183	-0.6230	9	.	.	.	.	15.7671	0.78135	0.0:0.0:1.0:0.0	.	131	P35499	SCN4A_HUMAN	V	131	ENSP00000396320:A131V	.	A	-	2	0	SCN4A	59403444	1.000000	0.71417	0.999000	0.59377	0.167000	0.22549	9.601000	0.98297	2.188000	0.69820	0.313000	0.20887	GCG		0.617	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	Missense_Mutation	10	8	10	8	---	---	---	---
CDH20	28316	broad.mit.edu	37	18	59166542	59166542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr18:59166542C>T	ENST00000262717.4	+	3	768	c.370C>T	c.(370-372)Cga>Tga	p.R124*	CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*|CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124*			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GAGGCTCGACCGAGAGGAAAG	0.537																																						ENST00000262717.4																			0				breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61						c.(370-372)Cga>Tga		cadherin 20, type 2							61.0	50.0	54.0					18																	59166542		2203	4300	6503	SO:0001587	stop_gained	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59166542C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.370C>T	18.37:g.59166542C>T	ENSP00000262717:p.Arg124*		Somatic				CDH20_ENST00000536675.2_Nonsense_Mutation_p.R124*|CDH20_ENST00000538374.1_Nonsense_Mutation_p.R124*	p.R124*			WXS	Illumina GAIIx	Phase_I	Q9HBT6	CAD20_HUMAN			3	768	+		Colorectal(73;0.186)	124			Cadherin 1.		Q495S3	Nonsense_Mutation	SNP	ENST00000262717.4	37	c.370C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	40	8.038425	0.98621	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	.	.	.	5.82	2.95	0.34219	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.0986	0.81148	0.542:0.458:0.0:0.0	.	.	.	.	X	124	.	ENSP00000262717:R124X	R	+	1	2	CDH20	57317522	1.000000	0.71417	0.751000	0.31187	0.928000	0.56348	2.353000	0.44089	0.323000	0.23307	0.650000	0.86243	CGA		0.537	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		12	13	12	13	---	---	---	---
OR7D2	162998	broad.mit.edu	37	19	9296747	9296747	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr19:9296747G>A	ENST00000344248.2	+	1	469	c.290G>A	c.(289-291)tGc>tAc	p.C97Y		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	97					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TACATGGACTGCCTCACACAG	0.517																																						ENST00000344248.2																			0				breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						c.(289-291)tGc>tAc		olfactory receptor, family 7, subfamily D, member 2							179.0	167.0	171.0					19																	9296747		2203	4300	6503	SO:0001583	missense	162998				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9296747G>A	AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.290G>A	19.37:g.9296747G>A	ENSP00000345563:p.Cys97Tyr		Somatic					p.C97Y	NM_175883.2	NP_787079.1	WXS	Illumina GAIIx	Phase_I	Q96RA2	OR7D2_HUMAN			1	469	+			97					Q6IFJ7|Q8N133	Missense_Mutation	SNP	ENST00000344248.2	37	c.290G>A	CCDS32900.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079205	0.36662	.	.	ENSG00000188000	ENST00000344248	T	0.17054	2.3	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	U	0.000523	T	0.57888	0.2084	H	0.99347	4.525	0.44789	D	0.997796	D	0.89917	1.0	D	0.91635	0.999	T	0.75263	-0.3379	10	0.87932	D	0	.	11.9872	0.53155	0.0:0.0:1.0:0.0	.	97	Q96RA2	OR7D2_HUMAN	Y	97	ENSP00000345563:C97Y	ENSP00000345563:C97Y	C	+	2	0	OR7D2	9157747	1.000000	0.71417	0.873000	0.34254	0.026000	0.11368	8.089000	0.89525	1.583000	0.49898	0.511000	0.50034	TGC		0.517	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449002.1			6	90	6	90	---	---	---	---
FLRT3	23767	broad.mit.edu	37	20	14307317	14307317	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8HL-01A-11D-A364-08	TCGA-YL-A8HL-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d89e8265-9112-4d3b-b195-61d6a4ab09f3	331c8a3c-a039-4af9-aec3-e6e050a27e23	g.chr20:14307317G>T	ENST00000378053.3	-	2	1092	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y|FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	279					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		GTTATTATTGGACATATCCAG	0.413																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(835-837)tCc>tAc		fibronectin leucine rich transmembrane protein 3							50.0	52.0	51.0					20																	14307317		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14307317G>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.836C>A	20.37:g.14307317G>T	ENSP00000367292:p.Ser279Tyr		Somatic				MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S279Y|MACROD2_ENST00000217246.4_Intron	p.S279Y	NM_013281.3	NP_037413.1	WXS	Illumina GAIIx	Phase_I	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	1092	-		Colorectal(1;0.0464)	279					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.836C>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.345922	0.61073	.	.	ENSG00000125848	ENST00000378053;ENST00000341420;ENST00000541882	T;T	0.63744	-0.06;-0.06	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	D	0.82861	0.5129	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83879	0.0278	10	0.72032	D	0.01	-8.6217	20.5211	0.99222	0.0:0.0:1.0:0.0	.	279	Q9NZU0	FLRT3_HUMAN	Y	279	ENSP00000367292:S279Y;ENSP00000339912:S279Y	ENSP00000339912:S279Y	S	-	2	0	FLRT3	14255317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	TCC		0.413	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		24	34	24	34	---	---	---	---
