#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
ARID1B	57492	broad.mit.edu	37	6	157525128	157525128	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr6:157525128C>A	ENST00000350026.5	+	18	4985	c.4984C>A	c.(4984-4986)Cag>Aag	p.Q1662K	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q1675K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1662					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATCTCTCCCAGGTAAGCCA	0.438																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5023-5025)Cag>Aag		AT rich interactive domain 1B (SWI1-like)							293.0	293.0	293.0					6																	157525128		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157525128C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4984C>A	6.37:g.157525128C>A	ENSP00000055163:p.Gln1662Lys					ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1662K	p.Q1675K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	5024	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1662					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5023C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441293	0.83993	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02369	4.65;4.64;4.65;4.65;4.32	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	M	0.78049	2.395	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.72982	0.952;0.979;0.979	T	0.01021	-1.1478	10	0.72032	D	0.01	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1662;1675;1657	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	1675;1662;1715;1657;1184	ENSP00000344546:Q1675K;ENSP00000055163:Q1662K;ENSP00000356116:Q1715K;ENSP00000275248:Q1657K;ENSP00000412835:Q1184K	ENSP00000275248:Q1657K	Q	+	1	0	ARID1B	157566820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.071000	0.71229	2.652000	0.90054	0.655000	0.94253	CAG		0.438	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	395	1	0	0.00198382	0.001984	0.00519897	6	395				
BRICD5	283870	broad.mit.edu	37	16	2260148	2260148	+	Silent	SNP	C	C	T	rs368580516		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:2260148C>T	ENST00000562360.1	-	3	314	c.315G>A	c.(313-315)gcG>gcA	p.A105A	BRICD5_ENST00000566018.1_Silent_p.A105A|BRICD5_ENST00000328540.3_Silent_p.A105A|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	105	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											CGAACAGCACCGCCCAGCTGT	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		16334	0.0		0.0	False		,,,				2504	0.001					ENST00000328540.3																			0											c.(313-315)gcG>gcA		BRICHOS domain containing 5		C		0,4386		0,0,2193	42.0	35.0	37.0		315	-11.1	0.4	16		37	1,8591		0,1,4295	no	coding-synonymous	C16orf79	NM_182563.3		0,1,6488	TT,TC,CC		0.0116,0.0,0.0077		105/229	2260148	1,12977	2193	4296	6489	SO:0001819	synonymous_variant	283870							g.chr16:2260148C>T	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.315G>A	16.37:g.2260148C>T						BRICD5_ENST00000562360.1_Silent_p.A105A|BRICD5_ENST00000566018.1_Silent_p.A105A	p.A105A	NM_182563.3	NP_872369.2					3	1431	-								C9J7K2|Q8IXU9	Silent	SNP	ENST00000562360.1	37	c.315G>A	CCDS10463.1																																																																																				0.711	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		7	9	0	0	0	0.001984	0	7	9				
NBPF22P	285622	broad.mit.edu	37	5	85592262	85592262	+	RNA	SNP	C	C	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr5:85592262C>A	ENST00000590707.1	+	0	1561					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		TTGATGACTTCAAGCCACTAT	0.433																																						ENST00000590707.1																			0																																																			0							g.chr5:85592262C>A	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85592262C>A								NR_003719.2						0	1561	+									RNA	SNP	ENST00000590707.1	37																																																																																						0.433	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1	XM_208333		5	5	1	0	0.000602214	0.000602	0.00176032	5	5				
YEATS2	55689	broad.mit.edu	37	3	183518272	183518272	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:183518272C>T	ENST00000305135.5	+	24	3539	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I	AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1115					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACCAGAAACACCTGGACCG	0.473																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3343-3345)aCa>aTa		YEATS domain containing 2							68.0	70.0	70.0					3																	183518272		2034	4203	6237	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183518272C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3344C>T	3.37:g.183518272C>T	ENSP00000306983:p.Thr1115Ile						p.T1115I	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		24	3539	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1115					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3344C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931652	0.52866	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.22336	1.96	5.94	5.94	0.96194	.	0.523372	0.19797	N	0.105832	T	0.16938	0.0407	N	0.22421	0.69	0.23865	N	0.996626	B	0.34103	0.437	B	0.27500	0.08	T	0.18493	-1.0335	10	0.66056	D	0.02	-12.8255	18.5399	0.91024	0.0:1.0:0.0:0.0	.	1115	Q9ULM3	YETS2_HUMAN	I	1115	ENSP00000306983:T1115I	ENSP00000306983:T1115I	T	+	2	0	YEATS2	185000966	0.177000	0.23109	0.588000	0.28705	0.831000	0.47069	2.303000	0.43646	2.816000	0.96949	0.563000	0.77884	ACA		0.473	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		16	51	0	0	0	0.006122	0	16	51				
ATMIN	23300	broad.mit.edu	37	16	81078068	81078068	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:81078068A>T	ENST00000299575.4	+	4	1989	c.1965A>T	c.(1963-1965)gaA>gaT	p.E655D	ATMIN_ENST00000564241.1_Missense_Mutation_p.E499D|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.E499D	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	655					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGAGAGTGAACTTAGCACCA	0.502																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1495-1497)gaA>gaT		ATM interactor							64.0	69.0	67.0					16																	81078068		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078068A>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1965A>T	16.37:g.81078068A>T	ENSP00000299575:p.Glu655Asp					ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.E499D|ATMIN_ENST00000299575.4_Missense_Mutation_p.E655D	p.E499D			O43313	ATMIN_HUMAN			3	2460	+			655					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1497A>T	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.483996	0.44147	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.37411	1.2	5.91	-8.63	0.00878	.	0.195482	0.53938	D	0.000045	T	0.18467	0.0443	L	0.46885	1.475	0.31658	N	0.645972	B	0.11235	0.004	B	0.09377	0.004	T	0.03969	-1.0988	10	0.27785	T	0.31	-3.9611	4.1144	0.10074	0.1826:0.1761:0.4655:0.1759	.	655	O43313	ATMIN_HUMAN	D	655;426	ENSP00000299575:E655D	ENSP00000299575:E655D	E	+	3	2	ATMIN	79635569	0.691000	0.27709	0.140000	0.22221	0.950000	0.60333	-0.236000	0.09003	-0.990000	0.03481	0.533000	0.62120	GAA		0.502	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		6	106	0	0	0	0.003080	0	6	106				
KCNV2	169522	broad.mit.edu	37	9	2718675	2718675	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:2718675C>T	ENST00000382082.3	+	1	1174	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	312					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCATGGGCTTCTTCACGCTCG	0.687																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(934-936)ttC>ttT		potassium channel, subfamily V, member 2							43.0	47.0	46.0					9																	2718675		2203	4299	6502	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718675C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.936C>T	9.37:g.2718675C>T							p.F312F	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1174	+			312					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.936C>T	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	6.956	0.546250	0.13312	.	.	ENSG00000168263	ENST00000423608	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.74741	0.3756	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73839	-0.3856	4	.	.	.	.	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	F	263	.	.	L	+	1	0	KCNV2	2708675	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.250000	0.51445	2.434000	0.82447	0.563000	0.77884	CTT		0.687	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		5	64	0	0	0	0.001168	0	5	64				
IFNE	338376	broad.mit.edu	37	9	21481080	21481080	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:21481080C>G	ENST00000448696.3	-	1	1232	c.614G>C	c.(613-615)aGa>aCa	p.R205T	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	205					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						CCTCGGGCTTCTAAACTCTGT	0.413																																						ENST00000448696.3																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(613-615)aGa>aCa		interferon, epsilon							91.0	93.0	92.0					9																	21481080		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481080C>G	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.614G>C	9.37:g.21481080C>G	ENSP00000418018:p.Arg205Thr					MIR31HG_ENST00000304425.3_RNA	p.R205T	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN			1	1232	-			205						Missense_Mutation	SNP	ENST00000448696.3	37	c.614G>C	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578204	0.28180	.	.	ENSG00000184995	ENST00000448696	T	0.04706	3.57	4.9	1.17	0.20885	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.44390	-0.9331	9	0.87932	D	0	.	7.2139	0.25949	0.0:0.2582:0.0:0.7418	.	205	Q86WN2	IFNE_HUMAN	T	205	ENSP00000418018:R205T	ENSP00000418018:R205T	R	-	2	0	IFNE	21471080	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.371000	0.20450	0.083000	0.17047	-0.150000	0.13652	AGA		0.413	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		4	195	0	0	0	0.000248	0	4	195				
PTPRO	5800	broad.mit.edu	37	12	15713197	15713197	+	Missense_Mutation	SNP	T	T	C	rs150693746	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr12:15713197T>C	ENST00000281171.4	+	17	3028	c.2698T>C	c.(2698-2700)Tat>Cat	p.Y900H	PTPRO_ENST00000544244.1_Intron|PTPRO_ENST00000348962.2_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000542557.1_Intron	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	900					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTTGGCATTTTATATTAATCC	0.313																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2698-2700)Tat>Cat		protein tyrosine phosphatase, receptor type, O		T	,HIS/TYR,,HIS/TYR,,HIS/TYR	1,4405	4.2+/-10.8	0,1,2202	184.0	168.0	173.0		,2698,,265,,265	5.4	1.0	12	dbSNP_134	173	0,8598		0,0,4299	no	intron,missense,intron,missense,intron,missense	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	,83,,83,,83	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	,probably-damaging,,probably-damaging,,probably-damaging	,900/1217,,89/406,,89/406	15713197	1,13003	2203	4299	6502	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15713197T>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2698T>C	12.37:g.15713197T>C	ENSP00000281171:p.Tyr900His					PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000348962.2_Intron|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000544244.1_Intron	p.Y900H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			17	3028	+		Hepatocellular(102;0.244)	900					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2698T>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087730	0.76642	2.27E-4	0.0	ENSG00000151490	ENST00000281171;ENST00000442921;ENST00000445537	T;T;T	0.05139	3.49;3.62;3.62	5.44	5.44	0.79542	.	0.000000	0.46758	D	0.000261	T	0.14313	0.0346	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.10086	-1.0645	10	0.40728	T	0.16	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	900	Q16827	PTPRO_HUMAN	H	900;89;89	ENSP00000281171:Y900H;ENSP00000404188:Y89H;ENSP00000393449:Y89H	ENSP00000281171:Y900H	Y	+	1	0	PTPRO	15604464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.285000	0.76669	0.533000	0.62120	TAT		0.313	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			3	120	0	0	0	0.000248	0	3	120				
PRSS12	8492	broad.mit.edu	37	4	119229634	119229634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr4:119229634T>C	ENST00000296498.3	-	8	1870	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	530	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCTTATCAGTCCATCCATCA	0.408																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1588-1590)Act>Gct		protease, serine, 12 (neurotrypsin, motopsin)							293.0	247.0	263.0					4																	119229634		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119229634T>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1588A>G	4.37:g.119229634T>C	ENSP00000296498:p.Thr530Ala						p.T530A	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			8	1870	-			530			SRCR 4.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1588A>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846091	0.71603	.	.	ENSG00000164099	ENST00000296498	T	0.30714	1.52	5.86	5.86	0.93980	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.136421	0.64402	D	0.000003	T	0.44871	0.1314	L	0.53249	1.67	0.51482	D	0.999922	D	0.55385	0.971	P	0.60286	0.872	T	0.30563	-0.9974	10	0.40728	T	0.16	.	11.1179	0.48270	0.1706:0.0:0.0:0.8294	.	530	P56730	NETR_HUMAN	A	530	ENSP00000296498:T530A	ENSP00000296498:T530A	T	-	1	0	PRSS12	119449082	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.899000	0.69846	2.237000	0.73441	0.528000	0.53228	ACT		0.408	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			3	124	0	0	0	0.004672	0	3	124				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	40	0	0	0	0.000248	0	3	40				
DHTKD1	55526	broad.mit.edu	37	10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr10:12160774G>A	ENST00000263035.4	+	15	2491	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	810					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G810D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483																																						ENST00000263035.4																			1	Substitution - Missense(1)	p.G810D(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2428-2430)gGc>gAc		dehydrogenase E1 and transketolase domain containing 1							148.0	160.0	156.0					10																	12160774		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160774G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2429G>A	10.37:g.12160774G>A	ENSP00000263035:p.Gly810Asp						p.G810D	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2491	+		Renal(717;0.228)	810					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2429G>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644508	0.67358	.	.	ENSG00000181192	ENST00000263035	T	0.27890	1.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85790	0.1367	10	0.87932	D	0	-8.3847	18.7995	0.92010	0.0:0.0:1.0:0.0	.	810	Q96HY7	DHTK1_HUMAN	D	810	ENSP00000263035:G810D	ENSP00000263035:G810D	G	+	2	0	DHTKD1	12200780	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	9.411000	0.97342	2.516000	0.84829	0.448000	0.29417	GGC		0.483	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	278	0	0	0	0.000602	0	5	278				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		4	112	0	0	0	0.000248	0	4	112				
CCDC129	223075	broad.mit.edu	37	7	31682443	31682443	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:31682443A>G	ENST00000407970.3	+	11	1497	c.1459A>G	c.(1459-1461)Agc>Ggc	p.S487G	CCDC129_ENST00000319386.3_Missense_Mutation_p.S339G|CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G|CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	487										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTTTTTCAAGCCAAGAAGC	0.512																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1015-1017)Agc>Ggc		coiled-coil domain containing 129							108.0	108.0	108.0					7																	31682443		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682443A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1459A>G	7.37:g.31682443A>G	ENSP00000384416:p.Ser487Gly					CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G|CCDC129_ENST00000407970.3_Missense_Mutation_p.S487G|CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G	p.S339G			Q6ZRS4	CC129_HUMAN			11	2008	+			487					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1015A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117320	0.20795	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.35048	1.33;1.67;1.67;1.41	5.85	3.46	0.39613	.	0.510961	0.20395	N	0.093176	T	0.31263	0.0791	M	0.61703	1.905	0.24045	N	0.996069	B;B;B;B	0.28552	0.058;0.215;0.215;0.058	B;B;B;B	0.29663	0.028;0.105;0.063;0.016	T	0.23048	-1.0199	10	0.28530	T	0.3	-1.0063	5.351	0.16036	0.7627:0.0:0.0828:0.1545	.	513;497;487;339	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	G	339;487;513;497;395	ENSP00000313062:S339G;ENSP00000384416:S487G;ENSP00000395835:S513G;ENSP00000387214:S395G	ENSP00000313062:S339G	S	+	1	0	CCDC129	31648968	0.846000	0.29590	0.682000	0.30024	0.268000	0.26511	1.866000	0.39489	0.463000	0.27118	0.477000	0.44152	AGC		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	162	0	0	0	0.004672	0	3	162				
TPM3	7170	broad.mit.edu	37	1	154145568	154145568	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:154145568A>G	ENST00000368530.2	-	4	679	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H|TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000368533.3_Missense_Mutation_p.Y126H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	163					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACCTCTTCATACTTCCTATCT	0.428			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000368533.3				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	"""NTRK1, ALK, ROS1"""		"""papillary thyroid, ALCL, NSCLC"""	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(376-378)Tat>Cat		tropomyosin 3							198.0	167.0	178.0					1																	154145568		2203	4300	6503	SO:0001583	missense	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154145568A>G	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.487T>C	1.37:g.154145568A>G	ENSP00000357516:p.Tyr163His					TPM3_ENST00000368530.2_Missense_Mutation_p.Y163H|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H	p.Y126H	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN			3	428	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		162					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	c.376T>C	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416590	0.83449	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.95539	3.685	0.51233	D	0.999917	P;D;D;D;B;P;B	0.76494	0.885;0.999;0.999;0.999;0.275;0.822;0.108	D;D;D;D;B;P;P	0.97110	0.916;0.999;1.0;0.993;0.374;0.897;0.56	D	0.99301	1.0901	10	0.87932	D	0	-1.777	16.2588	0.82530	1.0:0.0:0.0:0.0	.	60;126;162;126;126;126;126	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66	.;.;TPM3_HUMAN;.;.;.;.	H	126;110;126;102;126;163;36;126;126;163	ENSP00000357521:Y126H;ENSP00000341653:Y110H;ENSP00000339035:Y126H;ENSP00000339378:Y102H;ENSP00000357520:Y126H;ENSP00000271850:Y163H;ENSP00000307712:Y36H;ENSP00000357517:Y126H;ENSP00000357518:Y126H;ENSP00000357516:Y163H	ENSP00000271850:Y163H	Y	-	1	0	TPM3	152412192	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.246000	0.95438	2.243000	0.73865	0.459000	0.35465	TAT		0.428	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		47	89	0	0	0	0.003610	0	47	89				
ATMIN	23300	broad.mit.edu	37	16	81078069	81078069	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:81078069C>G	ENST00000299575.4	+	4	1990	c.1966C>G	c.(1966-1968)Ctt>Gtt	p.L656V	ATMIN_ENST00000564241.1_Missense_Mutation_p.L500V|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.L500V	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	656					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AGAGAGTGAACTTAGCACCAT	0.502																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1498-1500)Ctt>Gtt		ATM interactor							64.0	69.0	68.0					16																	81078069		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078069C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1966C>G	16.37:g.81078069C>G	ENSP00000299575:p.Leu656Val					ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.L500V|ATMIN_ENST00000299575.4_Missense_Mutation_p.L656V	p.L500V			O43313	ATMIN_HUMAN			3	2461	+			656					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1498C>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938555	0.73557	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.46451	0.87	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.78637	2.42	0.58432	D	0.999991	D	0.76494	0.999	D	0.80764	0.994	T	0.67662	-0.5613	10	0.87932	D	0	-20.2067	13.4829	0.61348	0.0:0.9291:0.0:0.0708	.	656	O43313	ATMIN_HUMAN	V	656;427	ENSP00000299575:L656V	ENSP00000299575:L656V	L	+	1	0	ATMIN	79635570	1.000000	0.71417	0.258000	0.24420	0.938000	0.57974	3.680000	0.54641	2.793000	0.96121	0.655000	0.94253	CTT		0.502	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		6	110	0	0	0	0.003080	0	6	110				
SCN10A	6336	broad.mit.edu	37	3	38755465	38755465	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr3:38755465C>G	ENST00000449082.2	-	21	3787	c.3788G>C	c.(3787-3789)cGa>cCa	p.R1263P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1263					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCTTCAAATCGAGAAAGAGC	0.537																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3787-3789)cGa>cCa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						66.0	68.0	67.0					3																	38755465		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755465C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3788G>C	3.37:g.38755465C>G	ENSP00000390600:p.Arg1263Pro						p.R1263P	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3787	-			1263					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3788G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358887	0.82353	.	.	ENSG00000185313	ENST00000449082	D	0.98807	-5.15	4.14	4.14	0.48551	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99855	4.85	0.54753	D	0.999983	D	0.63046	0.992	D	0.65140	0.932	D	0.97300	0.9930	10	0.87932	D	0	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	1263	Q9Y5Y9	SCNAA_HUMAN	P	1263	ENSP00000390600:R1263P	ENSP00000390600:R1263P	R	-	2	0	SCN10A	38730469	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.917000	0.69989	2.133000	0.65898	0.411000	0.27672	CGA		0.537	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		8	86	0	0	0	0.003080	0	8	86				
XPR1	9213	broad.mit.edu	37	1	180651511	180651511	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:180651511C>T	ENST00000367590.4	+	2	283	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	XPR1_ENST00000367589.3_Silent_p.L29L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	29	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(85-87)Ctg>Ttg		xenotropic and polytropic retrovirus receptor 1							98.0	104.0	102.0					1																	180651511		2203	4299	6502	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180651511C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.85C>T	1.37:g.180651511C>T						XPR1_ENST00000367589.3_Silent_p.L29L	p.L29L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			2	283	+			29			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.85C>T	CCDS1340.1																																																																																				0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		5	173	0	0	0	0.001168	0	5	173				
PPP1R12B	4660	broad.mit.edu	37	1	202394748	202394748	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:202394748C>T	ENST00000608999.1	+	4	749	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	199					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.A199V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTGCAGGATGCCCGCCAGTGG	0.522																																						ENST00000406302.3																			1	Substitution - Missense(1)	p.A199V(1)	kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(595-597)gCc>gTc		protein phosphatase 1, regulatory subunit 12B							190.0	207.0	201.0					1																	202394748		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202394748C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.596C>T	1.37:g.202394748C>T	ENSP00000476755:p.Ala199Val					PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V	p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	749	+			199					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.596C>T	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069581	0.93950	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.094539	0.46442	D	0.000281	T	0.68109	0.2965	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	0.964;0.985;1.0;1.0	P;B;D;D	0.67103	0.478;0.403;0.944;0.949	T	0.61633	-0.7023	10	0.22706	T	0.39	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	199;199;199;199	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	V	199	ENSP00000384496:A199V;ENSP00000337897:A199V;ENSP00000417159:A199V;ENSP00000349206:A199V	ENSP00000337897:A199V	A	+	2	0	PPP1R12B	200661371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.798000	0.85924	2.586000	0.87340	0.460000	0.39030	GCC		0.522	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		5	316	0	0	0	0.000602	0	5	316				
SCIMP	388325	broad.mit.edu	37	17	5126666	5126666	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr17:5126666A>G	ENST00000574081.1	-	2	211	c.107T>C	c.(106-108)cTc>cCc	p.L36P	RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000573772.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	36					positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											GTACAGGATGAGGCCCAGACC	0.512																																						ENST00000574081.1																			0											c.(106-108)cTc>cCc		SLP adaptor and CSK interacting membrane protein							323.0	306.0	311.0					17																	5126666		2086	4218	6304	SO:0001583	missense	388325					integral to membrane		g.chr17:5126666A>G	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.107T>C	17.37:g.5126666A>G	ENSP00000461269:p.Leu36Pro					RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000573772.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P	p.L36P	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN			2	211	-			36					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.107T>C	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.254064	0.59212	.	.	ENSG00000161929	ENST00000399600;ENST00000399592	.	.	.	5.53	4.45	0.53987	.	0.649988	0.14397	N	0.322169	T	0.68393	0.2996	L	0.55481	1.735	0.37220	D	0.905221	D;D;D	0.76494	0.99;0.999;0.99	P;D;D	0.68943	0.875;0.961;0.925	T	0.70605	-0.4826	9	0.87932	D	0	-4.6159	8.5126	0.33226	0.9119:0.0:0.0881:0.0	.	36;36;36	A6XGL4;Q6UWF3-2;Q6UWF3	.;.;CQ087_HUMAN	P	36;25	.	ENSP00000382501:L25P	L	-	2	0	C17orf87	5067390	0.402000	0.25311	0.926000	0.36857	0.900000	0.52787	2.579000	0.46059	1.044000	0.40200	0.533000	0.62120	CTC		0.512	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		5	381	0	0	0	0.001984	0	5	381				
MBTPS1	8720	broad.mit.edu	37	16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr16:84118642G>C	ENST00000343411.3	-	10	1727	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	411	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S411*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343411.3																			1	Substitution - Nonsense(1)	p.S411*(1)	urinary_tract(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1231-1233)tCa>tGa		membrane-bound transcription factor peptidase, site 1							87.0	74.0	78.0					16																	84118642		2200	4300	6500	SO:0001587	stop_gained	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84118642G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1232C>G	16.37:g.84118642G>C	ENSP00000344223:p.Ser411*		OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1226	MBTPS1_ENST00000569770.1_5'UTR	p.S411*	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			10	1727	-			411			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Nonsense_Mutation	SNP	ENST00000343411.3	37	c.1232C>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	44	10.654229	0.99445	.	.	ENSG00000140943	ENST00000343411	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6862	19.3469	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000344223:S411X	S	-	2	0	MBTPS1	82676143	1.000000	0.71417	0.987000	0.45799	0.966000	0.64601	9.869000	0.99810	2.560000	0.86352	0.561000	0.74099	TCA		0.602	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		3	64	0	0	0	0.004672	0	3	64				
BICD2	23299	broad.mit.edu	37	9	95480999	95480999	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr9:95480999G>T	ENST00000375512.3	-	5	1995	c.1928C>A	c.(1927-1929)gCa>gAa	p.A643E	BICD2_ENST00000356884.6_Missense_Mutation_p.A643E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	643					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCACGGCTGCCTGCAGGTG	0.622																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1927-1929)gCa>gAa		bicaudal D homolog 2 (Drosophila)							131.0	129.0	129.0					9																	95480999		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95480999G>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1928C>A	9.37:g.95480999G>T	ENSP00000364662:p.Ala643Glu					BICD2_ENST00000375512.3_Missense_Mutation_p.A643E	p.A643E	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1995	-			643					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1928C>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722012	0.30503	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.41400	1.0;1.0	5.39	4.49	0.54785	.	0.385347	0.30036	N	0.010567	T	0.32224	0.0822	L	0.36672	1.1	0.36659	D	0.877849	B;B	0.30146	0.228;0.27	B;B	0.34931	0.121;0.192	T	0.17501	-1.0367	10	0.08381	T	0.77	-5.8932	11.9756	0.53089	0.0847:0.0:0.9153:0.0	.	643;643	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	E	643	ENSP00000349351:A643E;ENSP00000364662:A643E	ENSP00000349351:A643E	A	-	2	0	BICD2	94520820	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	5.105000	0.64591	1.429000	0.47314	0.561000	0.74099	GCA		0.622	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		6	162	1	0	0.00116845	0.001168	0.00317149	6	162				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	58	0	0	0	0.006999	0	36	58				
FGG	2266	broad.mit.edu	37	4	155530931	155530931	+	Intron	SNP	C	C	T	rs567475985		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr4:155530931C>T	ENST00000336098.3	-	6	571				FGG_ENST00000405164.1_Missense_Mutation_p.D181N|FGG_ENST00000404648.3_Intron|FGG_ENST00000407946.1_Missense_Mutation_p.D181N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAAGGAGAATCGACTTTTACT	0.358																																						ENST00000407946.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(541-543)Gat>Aat		fibrinogen gamma chain	Sucralfate(DB00364)						83.0	81.0	81.0					4																	155530931		2203	4300	6503	SO:0001627	intron_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155530931C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.533-16G>A	4.37:g.155530931C>T						FGG_ENST00000336098.3_Intron|FGG_ENST00000405164.1_Missense_Mutation_p.D181N|FGG_ENST00000404648.3_Intron	p.D181N			P02679	FIBG_HUMAN			6	566	-	all_hematologic(180;0.215)	Renal(120;0.0458)	177			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.541G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.316285	0.01331	.	.	ENSG00000171557	ENST00000405164;ENST00000407946	T;T	0.56776	0.44;0.44	3.76	-7.51	0.01346	.	.	.	.	.	T	0.24392	0.0591	.	.	.	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.10450	0.005;0.003	T	0.15665	-1.0429	7	.	.	.	.	1.5759	0.02624	0.1657:0.3938:0.1658:0.2747	.	181;181	C9JC84;C9JEU5	.;.	N	181	ENSP00000384101:D181N;ENSP00000384552:D181N	.	D	-	1	0	FGG	155750381	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.074000	0.03427	-1.546000	0.01717	-1.613000	0.00800	GAT		0.358	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		16	53	0	0	0	0.003163	0	16	53				
ARID1B	57492	broad.mit.edu	37	6	157525128	157525128	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr6:157525128C>A	ENST00000350026.5	+	18	4985	c.4984C>A	c.(4984-4986)Cag>Aag	p.Q1662K	ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K|ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000346085.5_Missense_Mutation_p.Q1675K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1662					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAATCTCTCCCAGGTAAGCCA	0.438																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(5023-5025)Cag>Aag		AT rich interactive domain 1B (SWI1-like)							293.0	293.0	293.0					6																	157525128		2203	4296	6499	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157525128C>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.4984C>A	6.37:g.157525128C>A	ENSP00000055163:p.Gln1662Lys					ARID1B_ENST00000367148.1_Missense_Mutation_p.Q1715K|ARID1B_ENST00000350026.5_Missense_Mutation_p.Q1662K|ARID1B_ENST00000275248.4_Missense_Mutation_p.Q1657K	p.Q1675K	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	19	5024	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1662					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.5023C>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441293	0.83993	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02369	4.65;4.64;4.65;4.65;4.32	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	M	0.78049	2.395	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.72982	0.952;0.979;0.979	T	0.01021	-1.1478	10	0.72032	D	0.01	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	1662;1675;1657	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	K	1675;1662;1715;1657;1184	ENSP00000344546:Q1675K;ENSP00000055163:Q1662K;ENSP00000356116:Q1715K;ENSP00000275248:Q1657K;ENSP00000412835:Q1184K	ENSP00000275248:Q1657K	Q	+	1	0	ARID1B	157566820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.071000	0.71229	2.652000	0.90054	0.655000	0.94253	CAG		0.438	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		6	395	1	0	0.00198382	0.001984	0.00526952	6	395				
NBPF22P	285622	broad.mit.edu	37	5	85592262	85592262	+	RNA	SNP	C	C	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr5:85592262C>A	ENST00000590707.1	+	0	1561					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		TTGATGACTTCAAGCCACTAT	0.433																																						ENST00000590707.1																			0																																																			0							g.chr5:85592262C>A	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85592262C>A								NR_003719.2						0	1561	+									RNA	SNP	ENST00000590707.1	37																																																																																						0.433	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1	XM_208333		5	5	1	0	0.000602214	0.000602	0.00176511	5	5				
YEATS2	55689	broad.mit.edu	37	3	183518272	183518272	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr3:183518272C>T	ENST00000305135.5	+	24	3539	c.3344C>T	c.(3343-3345)aCa>aTa	p.T1115I	AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1115					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GAACCAGAAACACCTGGACCG	0.473																																						ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(3343-3345)aCa>aTa		YEATS domain containing 2							68.0	70.0	70.0					3																	183518272		2034	4203	6237	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183518272C>T	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3344C>T	3.37:g.183518272C>T	ENSP00000306983:p.Thr1115Ile						p.T1115I	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		24	3539	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1115					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.3344C>T	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931652	0.52866	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.22336	1.96	5.94	5.94	0.96194	.	0.523372	0.19797	N	0.105832	T	0.16938	0.0407	N	0.22421	0.69	0.23865	N	0.996626	B	0.34103	0.437	B	0.27500	0.08	T	0.18493	-1.0335	10	0.66056	D	0.02	-12.8255	18.5399	0.91024	0.0:1.0:0.0:0.0	.	1115	Q9ULM3	YETS2_HUMAN	I	1115	ENSP00000306983:T1115I	ENSP00000306983:T1115I	T	+	2	0	YEATS2	185000966	0.177000	0.23109	0.588000	0.28705	0.831000	0.47069	2.303000	0.43646	2.816000	0.96949	0.563000	0.77884	ACA		0.473	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		16	51	0	0	0	0.006122	0	16	51				
ATMIN	23300	broad.mit.edu	37	16	81078068	81078068	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:81078068A>T	ENST00000299575.4	+	4	1989	c.1965A>T	c.(1963-1965)gaA>gaT	p.E655D	ATMIN_ENST00000564241.1_Missense_Mutation_p.E499D|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.E499D	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	655					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AAGAGAGTGAACTTAGCACCA	0.502																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1495-1497)gaA>gaT		ATM interactor							64.0	69.0	67.0					16																	81078068		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078068A>T	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1965A>T	16.37:g.81078068A>T	ENSP00000299575:p.Glu655Asp					ATMIN_ENST00000299575.4_Missense_Mutation_p.E655D|ATMIN_ENST00000564241.1_Missense_Mutation_p.E499D|ATMIN_ENST00000539819.1_3'UTR	p.E499D			O43313	ATMIN_HUMAN			3	2460	+			655					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1497A>T	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.483996	0.44147	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.37411	1.2	5.91	-8.63	0.00878	.	0.195482	0.53938	D	0.000045	T	0.18467	0.0443	L	0.46885	1.475	0.31658	N	0.645972	B	0.11235	0.004	B	0.09377	0.004	T	0.03969	-1.0988	10	0.27785	T	0.31	-3.9611	4.1144	0.10074	0.1826:0.1761:0.4655:0.1759	.	655	O43313	ATMIN_HUMAN	D	655;426	ENSP00000299575:E655D	ENSP00000299575:E655D	E	+	3	2	ATMIN	79635569	0.691000	0.27709	0.140000	0.22221	0.950000	0.60333	-0.236000	0.09003	-0.990000	0.03481	0.533000	0.62120	GAA		0.502	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		6	106	0	0	0	0.003080	0	6	106				
KCNV2	169522	broad.mit.edu	37	9	2718675	2718675	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr9:2718675C>T	ENST00000382082.3	+	1	1174	c.936C>T	c.(934-936)ttC>ttT	p.F312F		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	312					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GCATGGGCTTCTTCACGCTCG	0.687																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(934-936)ttC>ttT		potassium channel, subfamily V, member 2							43.0	47.0	46.0					9																	2718675		2203	4299	6502	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718675C>T	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.936C>T	9.37:g.2718675C>T							p.F312F	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1174	+			312					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.936C>T	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	C	6.956	0.546250	0.13312	.	.	ENSG00000168263	ENST00000423608	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	T	0.74741	0.3756	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73839	-0.3856	4	.	.	.	.	18.8074	0.92043	0.0:1.0:0.0:0.0	.	.	.	.	F	263	.	.	L	+	1	0	KCNV2	2708675	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	3.250000	0.51445	2.434000	0.82447	0.563000	0.77884	CTT		0.687	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		5	64	0	0	0	0.001168	0	5	64				
IFNE	338376	broad.mit.edu	37	9	21481080	21481080	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr9:21481080C>G	ENST00000448696.3	-	1	1232	c.614G>C	c.(613-615)aGa>aCa	p.R205T	MIR31HG_ENST00000304425.3_RNA	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN	interferon, epsilon	205					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			large_intestine(2)|lung(1)|skin(1)	4						CCTCGGGCTTCTAAACTCTGT	0.413																																						ENST00000448696.3																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(613-615)aGa>aCa		interferon, epsilon							91.0	93.0	92.0					9																	21481080		2203	4300	6503	SO:0001583	missense	338376				defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21481080C>G	AY190045	CCDS34997.1	9p21.1	2008-12-12			ENSG00000184995	ENSG00000184995			18163	protein-coding gene	gene with protein product		615223				15546383, 17287131	Standard	NM_176891		Approved	IFNE1	uc003zpg.3	Q86WN2	OTTHUMG00000019672	ENST00000448696.3:c.614G>C	9.37:g.21481080C>G	ENSP00000418018:p.Arg205Thr					MIR31HG_ENST00000304425.3_RNA	p.R205T	NM_176891.4	NP_795372.1	Q86WN2	IFNE_HUMAN			1	1232	-			205						Missense_Mutation	SNP	ENST00000448696.3	37	c.614G>C	CCDS34997.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578204	0.28180	.	.	ENSG00000184995	ENST00000448696	T	0.04706	3.57	4.9	1.17	0.20885	.	.	.	.	.	T	0.02848	0.0085	N	0.08118	0	0.09310	N	1	B	0.25105	0.118	B	0.23852	0.049	T	0.44390	-0.9331	9	0.87932	D	0	.	7.2139	0.25949	0.0:0.2582:0.0:0.7418	.	205	Q86WN2	IFNE_HUMAN	T	205	ENSP00000418018:R205T	ENSP00000418018:R205T	R	-	2	0	IFNE	21471080	0.003000	0.15002	0.000000	0.03702	0.008000	0.06430	0.371000	0.20450	0.083000	0.17047	-0.150000	0.13652	AGA		0.413	IFNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051901.2	NM_176891		4	195	0	0	0	0.000248	0	4	195				
PTPRO	5800	broad.mit.edu	37	12	15713197	15713197	+	Missense_Mutation	SNP	T	T	C	rs150693746	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr12:15713197T>C	ENST00000281171.4	+	17	3028	c.2698T>C	c.(2698-2700)Tat>Cat	p.Y900H	PTPRO_ENST00000544244.1_Intron|PTPRO_ENST00000348962.2_Intron|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000542557.1_Intron	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	900					axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TTTGGCATTTTATATTAATCC	0.313																																						ENST00000281171.4																			0				NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74						c.(2698-2700)Tat>Cat		protein tyrosine phosphatase, receptor type, O		T	,HIS/TYR,,HIS/TYR,,HIS/TYR	1,4405	4.2+/-10.8	0,1,2202	184.0	168.0	173.0		,2698,,265,,265	5.4	1.0	12	dbSNP_134	173	0,8598		0,0,4299	no	intron,missense,intron,missense,intron,missense	PTPRO	NM_002848.3,NM_030667.2,NM_030668.2,NM_030669.2,NM_030670.2,NM_030671.2	,83,,83,,83	0,1,6501	CC,CT,TT		0.0,0.0227,0.0077	,probably-damaging,,probably-damaging,,probably-damaging	,900/1217,,89/406,,89/406	15713197	1,13003	2203	4299	6502	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15713197T>C	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2698T>C	12.37:g.15713197T>C	ENSP00000281171:p.Tyr900His					PTPRO_ENST00000544244.1_Intron|PTPRO_ENST00000445537.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000442921.2_Missense_Mutation_p.Y89H|PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000348962.2_Intron	p.Y900H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN			17	3028	+		Hepatocellular(102;0.244)	900					A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.2698T>C	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087730	0.76642	2.27E-4	0.0	ENSG00000151490	ENST00000281171;ENST00000442921;ENST00000445537	T;T;T	0.05139	3.49;3.62;3.62	5.44	5.44	0.79542	.	0.000000	0.46758	D	0.000261	T	0.14313	0.0346	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.10086	-1.0645	10	0.40728	T	0.16	.	15.6661	0.77230	0.0:0.0:0.0:1.0	.	900	Q16827	PTPRO_HUMAN	H	900;89;89	ENSP00000281171:Y900H;ENSP00000404188:Y89H;ENSP00000393449:Y89H	ENSP00000281171:Y900H	Y	+	1	0	PTPRO	15604464	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.285000	0.76669	0.533000	0.62120	TAT		0.313	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			3	120	0	0	0	0.000248	0	3	120				
PRSS12	8492	broad.mit.edu	37	4	119229634	119229634	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr4:119229634T>C	ENST00000296498.3	-	8	1870	c.1588A>G	c.(1588-1590)Act>Gct	p.T530A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	530	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCTTATCAGTCCATCCATCA	0.408																																						ENST00000296498.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1588-1590)Act>Gct		protease, serine, 12 (neurotrypsin, motopsin)							293.0	247.0	263.0					4																	119229634		2203	4300	6503	SO:0001583	missense	8492					membrane	scavenger receptor activity	g.chr4:119229634T>C	AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166	ENST00000296498.3:c.1588A>G	4.37:g.119229634T>C	ENSP00000296498:p.Thr530Ala						p.T530A	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN			8	1870	-			530			SRCR 4.		Q9UP16	Missense_Mutation	SNP	ENST00000296498.3	37	c.1588A>G	CCDS3709.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846091	0.71603	.	.	ENSG00000164099	ENST00000296498	T	0.30714	1.52	5.86	5.86	0.93980	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.136421	0.64402	D	0.000003	T	0.44871	0.1314	L	0.53249	1.67	0.51482	D	0.999922	D	0.55385	0.971	P	0.60286	0.872	T	0.30563	-0.9974	10	0.40728	T	0.16	.	11.1179	0.48270	0.1706:0.0:0.0:0.8294	.	530	P56730	NETR_HUMAN	A	530	ENSP00000296498:T530A	ENSP00000296498:T530A	T	-	1	0	PRSS12	119449082	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.899000	0.69846	2.237000	0.73441	0.528000	0.53228	ACT		0.408	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256516.2			3	124	0	0	0	0.004672	0	3	124				
DHTKD1	55526	broad.mit.edu	37	10	12160774	12160774	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr10:12160774G>A	ENST00000263035.4	+	15	2491	c.2429G>A	c.(2428-2430)gGc>gAc	p.G810D	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	810					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.G810D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTCTGCTCCGGCAAACATTTC	0.483																																						ENST00000263035.4																			1	Substitution - Missense(1)	p.G810D(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2428-2430)gGc>gAc		dehydrogenase E1 and transketolase domain containing 1							148.0	160.0	156.0					10																	12160774		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12160774G>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2429G>A	10.37:g.12160774G>A	ENSP00000263035:p.Gly810Asp						p.G810D	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		15	2491	+		Renal(717;0.228)	810					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2429G>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644508	0.67358	.	.	ENSG00000181192	ENST00000263035	T	0.27890	1.64	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.73908	0.3647	H	0.98866	4.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85790	0.1367	10	0.87932	D	0	-8.3847	18.7995	0.92010	0.0:0.0:1.0:0.0	.	810	Q96HY7	DHTK1_HUMAN	D	810	ENSP00000263035:G810D	ENSP00000263035:G810D	G	+	2	0	DHTKD1	12200780	1.000000	0.71417	0.994000	0.49952	0.183000	0.23260	9.411000	0.97342	2.516000	0.84829	0.448000	0.29417	GGC		0.483	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		5	278	0	0	0	0.000602	0	5	278				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		4	112	0	0	0	0.000248	0	4	112				
CCDC129	223075	broad.mit.edu	37	7	31682443	31682443	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr7:31682443A>G	ENST00000407970.3	+	11	1497	c.1459A>G	c.(1459-1461)Agc>Ggc	p.S487G	CCDC129_ENST00000319386.3_Missense_Mutation_p.S339G|CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G|CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	487										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GTCTTTTTCAAGCCAAGAAGC	0.512																																						ENST00000319386.3																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						c.(1015-1017)Agc>Ggc		coiled-coil domain containing 129							108.0	108.0	108.0					7																	31682443		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682443A>G	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1459A>G	7.37:g.31682443A>G	ENSP00000384416:p.Ser487Gly					CCDC129_ENST00000409210.1_Missense_Mutation_p.S395G|CCDC129_ENST00000451887.2_Missense_Mutation_p.S513G|CCDC129_ENST00000407970.3_Missense_Mutation_p.S487G	p.S339G			Q6ZRS4	CC129_HUMAN			11	2008	+			487					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1015A>G	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	A	9.556	1.117320	0.20795	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.35048	1.33;1.67;1.67;1.41	5.85	3.46	0.39613	.	0.510961	0.20395	N	0.093176	T	0.31263	0.0791	M	0.61703	1.905	0.24045	N	0.996069	B;B;B;B	0.28552	0.058;0.215;0.215;0.058	B;B;B;B	0.29663	0.028;0.105;0.063;0.016	T	0.23048	-1.0199	10	0.28530	T	0.3	-1.0063	5.351	0.16036	0.7627:0.0:0.0828:0.1545	.	513;497;487;339	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	G	339;487;513;497;395	ENSP00000313062:S339G;ENSP00000384416:S487G;ENSP00000395835:S513G;ENSP00000387214:S395G	ENSP00000313062:S339G	S	+	1	0	CCDC129	31648968	0.846000	0.29590	0.682000	0.30024	0.268000	0.26511	1.866000	0.39489	0.463000	0.27118	0.477000	0.44152	AGC		0.512	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		3	162	0	0	0	0.004672	0	3	162				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	13	0	0	0	0.000248	0	4	13				
TPM3	7170	broad.mit.edu	37	1	154145568	154145568	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr1:154145568A>G	ENST00000368530.2	-	4	679	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H|TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000368533.3_Missense_Mutation_p.Y126H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	163					cellular component movement (GO:0006928)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle thin filament tropomyosin (GO:0005862)|stress fiber (GO:0001725)			TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACCTCTTCATACTTCCTATCT	0.428			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""																																	ENST00000368533.3				Dom	yes		1	1q22-q23	7170	T	tropomyosin 3			"""E, L"""	"""NTRK1, ALK, ROS1"""		"""papillary thyroid, ALCL, NSCLC"""	TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(376-378)Tat>Cat		tropomyosin 3							198.0	167.0	178.0					1																	154145568		2203	4300	6503	SO:0001583	missense	7170				cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding	g.chr1:154145568A>G	BC008425	CCDS1060.1, CCDS41400.1, CCDS41401.1, CCDS41402.1, CCDS41403.1, CCDS60274.1, CCDS60275.1, CCDS72922.1	1q21.2	2014-09-17			ENSG00000143549	ENSG00000143549		"""Tropomyosins"""	12012	protein-coding gene	gene with protein product		191030		NEM1		1829807	Standard	NM_153649		Approved	TRK	uc001fec.2	P06753	OTTHUMG00000035853	ENST00000368530.2:c.487T>C	1.37:g.154145568A>G	ENSP00000357516:p.Tyr163His					TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000341485.5_Missense_Mutation_p.Y110H|TPM3_ENST00000328159.4_Missense_Mutation_p.Y126H|TPM3_ENST00000323144.7_Missense_Mutation_p.Y126H|TPM3_ENST00000368530.2_Missense_Mutation_p.Y163H|TPM3_ENST00000302206.5_Missense_Mutation_p.Y36H|TPM3_ENST00000368531.2_Missense_Mutation_p.Y126H|TPM3_ENST00000271850.7_Missense_Mutation_p.Y163H|TPM3_ENST00000341372.3_Missense_Mutation_p.Y101H|TPM3_ENST00000330188.9_Missense_Mutation_p.Y126H	p.Y126H	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN			3	428	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		162					D3DV71|P12324|Q2QD06|Q5VU58|Q5VU63|Q5VU66|Q5VU71|Q5VU72|Q8TCG3|Q969Q2|Q9NQH8	Missense_Mutation	SNP	ENST00000368530.2	37	c.376T>C	CCDS41403.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416590	0.83449	.	.	ENSG00000143549	ENST00000368533;ENST00000341485;ENST00000330188;ENST00000341372;ENST00000328159;ENST00000271850;ENST00000302206;ENST00000368531;ENST00000323144;ENST00000368530	D;D;D;D;D;D;D;D;D;D	0.98150	-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75;-4.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.99124	0.9698	H	0.95539	3.685	0.51233	D	0.999917	P;D;D;D;B;P;B	0.76494	0.885;0.999;0.999;0.999;0.275;0.822;0.108	D;D;D;D;B;P;P	0.97110	0.916;0.999;1.0;0.993;0.374;0.897;0.56	D	0.99301	1.0901	10	0.87932	D	0	-1.777	16.2588	0.82530	1.0:0.0:0.0:0.0	.	60;126;162;126;126;126;126	B4DQ80;Q5VU58;P06753;P06753-3;P06753-2;Q5VU72;Q5VU66	.;.;TPM3_HUMAN;.;.;.;.	H	126;110;126;102;126;163;36;126;126;163	ENSP00000357521:Y126H;ENSP00000341653:Y110H;ENSP00000339035:Y126H;ENSP00000339378:Y102H;ENSP00000357520:Y126H;ENSP00000271850:Y163H;ENSP00000307712:Y36H;ENSP00000357517:Y126H;ENSP00000357518:Y126H;ENSP00000357516:Y163H	ENSP00000271850:Y163H	Y	-	1	0	TPM3	152412192	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.246000	0.95438	2.243000	0.73865	0.459000	0.35465	TAT		0.428	TPM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087271.2	NM_152263		47	89	0	0	0	0.003610	0	47	89				
ATMIN	23300	broad.mit.edu	37	16	81078069	81078069	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:81078069C>G	ENST00000299575.4	+	4	1990	c.1966C>G	c.(1966-1968)Ctt>Gtt	p.L656V	ATMIN_ENST00000564241.1_Missense_Mutation_p.L500V|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Missense_Mutation_p.L500V	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	656					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AGAGAGTGAACTTAGCACCAT	0.502																																						ENST00000566488.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1498-1500)Ctt>Gtt		ATM interactor							64.0	69.0	68.0					16																	81078069		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81078069C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1966C>G	16.37:g.81078069C>G	ENSP00000299575:p.Leu656Val					ATMIN_ENST00000299575.4_Missense_Mutation_p.L656V|ATMIN_ENST00000564241.1_Missense_Mutation_p.L500V|ATMIN_ENST00000539819.1_3'UTR	p.L500V			O43313	ATMIN_HUMAN			3	2461	+			656					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1498C>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938555	0.73557	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.46451	0.87	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	M	0.78637	2.42	0.58432	D	0.999991	D	0.76494	0.999	D	0.80764	0.994	T	0.67662	-0.5613	10	0.87932	D	0	-20.2067	13.4829	0.61348	0.0:0.9291:0.0:0.0708	.	656	O43313	ATMIN_HUMAN	V	656;427	ENSP00000299575:L656V	ENSP00000299575:L656V	L	+	1	0	ATMIN	79635570	1.000000	0.71417	0.258000	0.24420	0.938000	0.57974	3.680000	0.54641	2.793000	0.96121	0.655000	0.94253	CTT		0.502	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		6	110	0	0	0	0.003080	0	6	110				
SCN10A	6336	broad.mit.edu	37	3	38755465	38755465	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr3:38755465C>G	ENST00000449082.2	-	21	3787	c.3788G>C	c.(3787-3789)cGa>cCa	p.R1263P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1263					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCTTCAAATCGAGAAAGAGC	0.537																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3787-3789)cGa>cCa		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						66.0	68.0	67.0					3																	38755465		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755465C>G	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3788G>C	3.37:g.38755465C>G	ENSP00000390600:p.Arg1263Pro						p.R1263P	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	21	3787	-			1263					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3788G>C	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358887	0.82353	.	.	ENSG00000185313	ENST00000449082	D	0.98807	-5.15	4.14	4.14	0.48551	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99855	4.85	0.54753	D	0.999983	D	0.63046	0.992	D	0.65140	0.932	D	0.97300	0.9930	10	0.87932	D	0	.	16.5766	0.84681	0.0:1.0:0.0:0.0	.	1263	Q9Y5Y9	SCNAA_HUMAN	P	1263	ENSP00000390600:R1263P	ENSP00000390600:R1263P	R	-	2	0	SCN10A	38730469	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.917000	0.69989	2.133000	0.65898	0.411000	0.27672	CGA		0.537	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		8	86	0	0	0	0.003080	0	8	86				
XPR1	9213	broad.mit.edu	37	1	180651511	180651511	+	Silent	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr1:180651511C>T	ENST00000367590.4	+	2	283	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	XPR1_ENST00000367589.3_Silent_p.L29L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	29	SPX. {ECO:0000255|PROSITE- ProRule:PRU00714}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CAAGGATATGCTGTATTCAGC	0.328																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(85-87)Ctg>Ttg		xenotropic and polytropic retrovirus receptor 1							98.0	104.0	102.0					1																	180651511		2203	4299	6502	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180651511C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.85C>T	1.37:g.180651511C>T						XPR1_ENST00000367589.3_Silent_p.L29L	p.L29L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			2	283	+			29			SPX.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.85C>T	CCDS1340.1																																																																																				0.328	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		5	173	0	0	0	0.001168	0	5	173				
PPP1R12B	4660	broad.mit.edu	37	1	202394748	202394748	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr1:202394748C>T	ENST00000608999.1	+	4	749	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	199					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.A199V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTGCAGGATGCCCGCCAGTGG	0.522																																						ENST00000406302.3																			1	Substitution - Missense(1)	p.A199V(1)	kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(595-597)gCc>gTc		protein phosphatase 1, regulatory subunit 12B							190.0	207.0	201.0					1																	202394748		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202394748C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.596C>T	1.37:g.202394748C>T	ENSP00000476755:p.Ala199Val					PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V	p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	749	+			199					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.596C>T	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069581	0.93950	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.094539	0.46442	D	0.000281	T	0.68109	0.2965	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	0.964;0.985;1.0;1.0	P;B;D;D	0.67103	0.478;0.403;0.944;0.949	T	0.61633	-0.7023	10	0.22706	T	0.39	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	199;199;199;199	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	V	199	ENSP00000384496:A199V;ENSP00000337897:A199V;ENSP00000417159:A199V;ENSP00000349206:A199V	ENSP00000337897:A199V	A	+	2	0	PPP1R12B	200661371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.798000	0.85924	2.586000	0.87340	0.460000	0.39030	GCC		0.522	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		5	316	0	0	0	0.000602	0	5	316				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522815	95522815	+	RNA	SNP	A	A	G	rs372261324		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr2:95522815A>G	ENST00000432432.2	-	0	212					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		ATCTTCTGCAATTCGGAGTCC	0.652																																						ENST00000432432.2																			0																																																			0							g.chr2:95522815A>G			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522815A>G								NR_040113.1						0	212	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.652	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			4	103	0	0	0	0.000602	0	4	103				
BRICD5	283870	broad.mit.edu	37	16	2260148	2260148	+	Silent	SNP	C	C	T	rs368580516		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:2260148C>T	ENST00000562360.1	-	3	314	c.315G>A	c.(313-315)gcG>gcA	p.A105A	BRICD5_ENST00000566018.1_Silent_p.A105A|BRICD5_ENST00000328540.3_Silent_p.A105A|RP11-304L19.8_ENST00000561544.1_lincRNA			Q6PL45	BRID5_HUMAN	BRICHOS domain containing 5	105	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)											CGAACAGCACCGCCCAGCTGT	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		16334	0.0		0.0	False		,,,				2504	0.001					ENST00000328540.3																			0											c.(313-315)gcG>gcA		BRICHOS domain containing 5		C		0,4386		0,0,2193	42.0	35.0	37.0		315	-11.1	0.4	16		37	1,8591		0,1,4295	no	coding-synonymous	C16orf79	NM_182563.3		0,1,6488	TT,TC,CC		0.0116,0.0,0.0077		105/229	2260148	1,12977	2193	4296	6489	SO:0001819	synonymous_variant	283870							g.chr16:2260148C>T	BC039154	CCDS10463.1	16p13.3	2012-10-10	2012-10-10	2012-10-10	ENSG00000182685	ENSG00000182685		"""BRICHOS domain containing"""	28309	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 79"""	C16orf79		12477932	Standard	NM_182563		Approved	MGC21830	uc002cpi.2	Q6PL45	OTTHUMG00000128831	ENST00000562360.1:c.315G>A	16.37:g.2260148C>T						BRICD5_ENST00000566018.1_Silent_p.A105A|BRICD5_ENST00000562360.1_Silent_p.A105A	p.A105A	NM_182563.3	NP_872369.2					3	1431	-								C9J7K2|Q8IXU9	Silent	SNP	ENST00000562360.1	37	c.315G>A	CCDS10463.1																																																																																				0.711	BRICD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435091.1	NM_182563		7	9	0	0	0	0.001984	0	7	9				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		5	70	0	0	0	0.001168	0	5	70				
SCIMP	388325	broad.mit.edu	37	17	5126666	5126666	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr17:5126666A>G	ENST00000574081.1	-	2	211	c.107T>C	c.(106-108)cTc>cCc	p.L36P	RP11-333E1.1_ENST00000575601.1_RNA|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P|RP11-333E1.1_ENST00000573772.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	SCIMP_HUMAN	SLP adaptor and CSK interacting membrane protein	36					positive regulation of ERK1 and ERK2 cascade (GO:0070374)	immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|tetraspanin-enriched microdomain (GO:0097197)|uropod membrane (GO:0031259)											GTACAGGATGAGGCCCAGACC	0.512																																						ENST00000574081.1																			0											c.(106-108)cTc>cCc		SLP adaptor and CSK interacting membrane protein							323.0	306.0	311.0					17																	5126666		2086	4218	6304	SO:0001583	missense	388325					integral to membrane		g.chr17:5126666A>G	AY358809	CCDS42242.1, CCDS62044.1	17p13.2	2011-11-24	2011-11-23	2011-11-23	ENSG00000161929	ENSG00000161929			33504	protein-coding gene	gene with protein product	"""SLP65/SLP76, Csk-interacting membrane protein"""	614406	"""chromosome 17 open reading frame 87"""	C17orf87		21930792	Standard	NM_207103		Approved	DTFT5783, UNQ5783, FLJ32580, MGC163426, MGC163428	uc002gbh.3	Q6UWF3	OTTHUMG00000132914	ENST00000574081.1:c.107T>C	17.37:g.5126666A>G	ENSP00000461269:p.Leu36Pro					RP11-333E1.1_ENST00000573772.1_RNA|RP11-333E1.1_ENST00000575601.1_RNA|RP11-333E1.1_ENST00000571689.1_RNA|SCIMP_ENST00000574297.1_Missense_Mutation_p.L36P|SCIMP_ENST00000399600.4_Missense_Mutation_p.L36P|SCIMP_ENST00000571800.1_Missense_Mutation_p.L36P	p.L36P	NM_001271842.1|NM_207103.3	NP_001258771.1|NP_996986.1	Q6UWF3	CQ087_HUMAN			2	211	-			36					A6XGL4|B4DLK1|Q96MD0	Missense_Mutation	SNP	ENST00000574081.1	37	c.107T>C	CCDS42242.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.254064	0.59212	.	.	ENSG00000161929	ENST00000399600;ENST00000399592	.	.	.	5.53	4.45	0.53987	.	0.649988	0.14397	N	0.322169	T	0.68393	0.2996	L	0.55481	1.735	0.37220	D	0.905221	D;D;D	0.76494	0.99;0.999;0.99	P;D;D	0.68943	0.875;0.961;0.925	T	0.70605	-0.4826	9	0.87932	D	0	-4.6159	8.5126	0.33226	0.9119:0.0:0.0881:0.0	.	36;36;36	A6XGL4;Q6UWF3-2;Q6UWF3	.;.;CQ087_HUMAN	P	36;25	.	ENSP00000382501:L25P	L	-	2	0	C17orf87	5067390	0.402000	0.25311	0.926000	0.36857	0.900000	0.52787	2.579000	0.46059	1.044000	0.40200	0.533000	0.62120	CTC		0.512	SCIMP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256425.2	NM_207103		5	381	0	0	0	0.001984	0	5	381				
MBTPS1	8720	broad.mit.edu	37	16	84118642	84118642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:84118642G>C	ENST00000343411.3	-	10	1727	c.1232C>G	c.(1231-1233)tCa>tGa	p.S411*	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	411	Peptidase S8.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.S411*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACTGGTCCCTGAGAGGGCCCG	0.602											OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000343411.3																			1	Substitution - Nonsense(1)	p.S411*(1)	urinary_tract(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1231-1233)tCa>tGa		membrane-bound transcription factor peptidase, site 1							87.0	74.0	78.0					16																	84118642		2200	4300	6500	SO:0001587	stop_gained	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84118642G>C	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1232C>G	16.37:g.84118642G>C	ENSP00000344223:p.Ser411*		OREG0023982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1226	MBTPS1_ENST00000569770.1_5'UTR	p.S411*	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			10	1727	-			411			Serine protease.		A8K6V8|Q24JQ2|Q9UF67	Nonsense_Mutation	SNP	ENST00000343411.3	37	c.1232C>G	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	44	10.654229	0.99445	.	.	ENSG00000140943	ENST00000343411	.	.	.	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.6862	19.3469	0.94367	0.0:0.0:1.0:0.0	.	.	.	.	X	411	.	ENSP00000344223:S411X	S	-	2	0	MBTPS1	82676143	1.000000	0.71417	0.987000	0.45799	0.966000	0.64601	9.869000	0.99810	2.560000	0.86352	0.561000	0.74099	TCA		0.602	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		3	64	0	0	0	0.004672	0	3	64				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			6	83	0	0	0	0.001984	0	6	83				
BICD2	23299	broad.mit.edu	37	9	95480999	95480999	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr9:95480999G>T	ENST00000375512.3	-	5	1995	c.1928C>A	c.(1927-1929)gCa>gAa	p.A643E	BICD2_ENST00000356884.6_Missense_Mutation_p.A643E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	643					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCACGGCTGCCTGCAGGTG	0.622																																						ENST00000356884.6																			0				cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1927-1929)gCa>gAa		bicaudal D homolog 2 (Drosophila)							131.0	129.0	129.0					9																	95480999		2203	4300	6503	SO:0001583	missense	23299				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	g.chr9:95480999G>T	AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1928C>A	9.37:g.95480999G>T	ENSP00000364662:p.Ala643Glu					BICD2_ENST00000375512.3_Missense_Mutation_p.A643E	p.A643E	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN			5	1995	-			643					O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	c.1928C>A	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.722012	0.30503	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.41400	1.0;1.0	5.39	4.49	0.54785	.	0.385347	0.30036	N	0.010567	T	0.32224	0.0822	L	0.36672	1.1	0.36659	D	0.877849	B;B	0.30146	0.228;0.27	B;B	0.34931	0.121;0.192	T	0.17501	-1.0367	10	0.08381	T	0.77	-5.8932	11.9756	0.53089	0.0847:0.0:0.9153:0.0	.	643;643	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	E	643	ENSP00000349351:A643E;ENSP00000364662:A643E	ENSP00000349351:A643E	A	-	2	0	BICD2	94520820	1.000000	0.71417	0.976000	0.42696	0.995000	0.86356	5.105000	0.64591	1.429000	0.47314	0.561000	0.74099	GCA		0.622	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1	NM_015250		6	162	1	0	0.00116845	0.001168	0.0032038	6	162				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		36	58	0	0	0	0.006999	0	36	58				
FGG	2266	broad.mit.edu	37	4	155530931	155530931	+	Intron	SNP	C	C	T	rs567475985		TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr4:155530931C>T	ENST00000336098.3	-	6	571				FGG_ENST00000405164.1_Missense_Mutation_p.D181N|FGG_ENST00000404648.3_Intron|FGG_ENST00000407946.1_Missense_Mutation_p.D181N	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain						blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAAGGAGAATCGACTTTTACT	0.358																																						ENST00000407946.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(541-543)Gat>Aat		fibrinogen gamma chain	Sucralfate(DB00364)						83.0	81.0	81.0					4																	155530931		2203	4300	6503	SO:0001627	intron_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155530931C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.533-16G>A	4.37:g.155530931C>T						FGG_ENST00000405164.1_Missense_Mutation_p.D181N|FGG_ENST00000404648.3_Intron|FGG_ENST00000336098.3_Intron	p.D181N			P02679	FIBG_HUMAN			6	566	-	all_hematologic(180;0.215)	Renal(120;0.0458)	177			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.541G>A	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	C	0.034	-1.316285	0.01331	.	.	ENSG00000171557	ENST00000405164;ENST00000407946	T;T	0.56776	0.44;0.44	3.76	-7.51	0.01346	.	.	.	.	.	T	0.24392	0.0591	.	.	.	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.10450	0.005;0.003	T	0.15665	-1.0429	7	.	.	.	.	1.5759	0.02624	0.1657:0.3938:0.1658:0.2747	.	181;181	C9JC84;C9JEU5	.;.	N	181	ENSP00000384101:D181N;ENSP00000384552:D181N	.	D	-	1	0	FGG	155750381	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.074000	0.03427	-1.546000	0.01717	-1.613000	0.00800	GAT		0.358	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		16	53	0	0	0	0.003163	0	16	53				
SNX27	81609	broad.mit.edu	37	1	151584734	151584735	+	In_Frame_Ins	INS	-	-	GGC	rs567208173	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr1:151584734_151584735insGGC	ENST00000458013.2	+	1	177_178	c.57_58insGGC	c.(58-60)ggc>GGCggc	p.20_20G>GG	SNX27_ENST00000368843.3_In_Frame_Ins_p.20_20G>GG|RP11-404E16.1_ENST00000504583.2_RNA			Q96L92	SNX27_HUMAN	sorting nexin family member 27	20					endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGAAcggaggtggcggcggcgg	0.738														3	0.000599042	0.0008	0.0014	5008	,	,		10116	0.0		0.001	False		,,,				2504	0.0				Colon(46;291 966 40145 41237 41888)	ENST00000368843.3																			0				central_nervous_system(1)|large_intestine(2)|ovary(2)	5						c.(55-60)gggcgg>ggGGCgcgg		sorting nexin family member 27																																				SO:0001652	inframe_insertion	81609				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	g.chr1:151584734_151584735insGGC	AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.67_69dupGGC	1.37:g.151584741_151584743dupGGC	ENSP00000400333:p.Gly25dup					SNX27_ENST00000458013.2_In_Frame_Ins_p.19_20GR>GAR|RP11-404E16.1_ENST00000504583.2_RNA	p.19_20GR>GAR	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	177_178	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		19					Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	In_Frame_Ins	INS	ENST00000458013.2	37	c.57_58insGGC																																																																																					0.738	SNX27-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000036624.3	NM_030918		7	2						7	2	---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861|rs3832595	byFrequency	TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	7074d548-f3d0-40b8-be2b-5140357ab71b	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13				Missing (in Ref. 1 and 3). {ECO:0000305}.	bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764														1558	0.311102	0.0401	0.389	5008	,	,		9448	0.4038		0.3956	False		,,,				2504	0.4397					ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(37-42)gcc>gc		secreted frizzled-related protein 1				337,0,3741		45,0,247,0,0,1747						1.6	0.3		dbSNP_107	8	2693,2,5163		669,0,1355,0,2,1903	no	codingComplex	SFRP1	NM_003012.4		714,0,1602,0,2,3650	A1A1,A1A2,A1R,A2A2,A2R,RR		34.2963,8.2639,25.4021				3030,2,8904				SO:0001651	inframe_deletion	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166638_41166640delGCT	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.39_41delAGC	8.37:g.41166638_41166640delGCT	ENSP00000220772:p.Ala14del						p.AA13del	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	376_378	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	13					O00546|O14779	In_Frame_Del	DEL	ENST00000220772.3	37	c.39_41delAGC	CCDS34886.1																																																																																				0.764	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		3	6						3	6	---	---	---	---
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576									ankyrin repeat domain 36B pseudogene 2																		GTATTCCTTTTTTTTCAGTGTA	0.347																																						ENST00000393525.3																			0																																																			0							g.chr2:89083945_89083946insGC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89083945_89083946insGC														0	576	+									RNA	INS	ENST00000393525.3	37																																																																																						0.347	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			4	5						4	5	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28518115	28518115	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr15:28518115delC	ENST00000261609.7	-	8	944	c.836delG	c.(835-837)ggafs	p.G279fs		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.G279V(1)|p.G279fs*25(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGGGATGCTTCCTGGCCCTTT	0.592																																						ENST00000261609.7																			2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.G279V(1)|p.G279fs*25(1)	autonomic_ganglia(1)|breast(1)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(835-837)gafs		HECT and RLD domain containing E3 ubiquitin protein ligase 2							50.0	48.0	49.0					15																	28518115		2203	4300	6503	SO:0001589	frameshift_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28518115delC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.836delG	15.37:g.28518115delC	ENSP00000261609:p.Gly279fs						p.G279fs	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	8	944	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	279						Frame_Shift_Del	DEL	ENST00000261609.7	37	c.836delG	CCDS10021.1																																																																																				0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		8	68						8	68	---	---	---	---
LOC101928880	101928880	broad.mit.edu	37	16	88226611	88226611	+	lincRNA	DEL	G	G	-			TCGA-BJ-A28R-01A-11D-A16O-08	TCGA-BJ-A28R-11A-11D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e121c821-97e4-4964-bdf9-57a730b64668	62fac233-a2d6-42c1-9d04-f6f6a0ce274b	g.chr16:88226611delG	ENST00000569362.1	+	0	0				RP11-863P13.2_ENST00000568587.1_lincRNA																							tggtggtgatggtggtgatgg	0.522																																						ENST00000568587.1																			0																																																			0							g.chr16:88226611delG																													16.37:g.88226611delG														0	91	-									RNA	DEL	ENST00000569362.1	37																																																																																						0.522	LA16c-444G7.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430450.1			3	5						3	5	---	---	---	---
