#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
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		3	24	0	0	0	6.4e-05	0	3	24				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	111	0	0	0	6.4e-05	0	3	111				
MAP3K3	4215	broad.mit.edu	37	17	61759152	61759152	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr17:61759152C>T	ENST00000361733.3	+	7	849	c.529C>T	c.(529-531)Cct>Tct	p.P177S	MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000361357.3_Missense_Mutation_p.P208S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	177					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGAAGCTCACCTCCCCCTGG	0.607																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(622-624)Cct>Tct		mitogen-activated protein kinase kinase kinase 3							99.0	91.0	94.0					17																	61759152		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61759152C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.529C>T	17.37:g.61759152C>T	ENSP00000354485:p.Pro177Ser					MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000361733.3_Missense_Mutation_p.P177S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S	p.P208S	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			8	940	+			177					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.622C>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158497	0.94686	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.75938	-0.98;-0.93	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87601	0.6218	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88505	0.3085	10	0.87932	D	0	.	19.6853	0.95977	0.0:1.0:0.0:0.0	.	177;145;177;208	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	S	208;177	ENSP00000354927:P208S;ENSP00000354485:P177S	ENSP00000354927:P208S	P	+	1	0	MAP3K3	59112884	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.744000	0.85034	2.737000	0.93849	0.561000	0.74099	CCT		0.607	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		43	62	0	0	0	0.000374591	0	43	62				
RIT2	6014	broad.mit.edu	37	18	40503596	40503596	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr18:40503596T>A	ENST00000326695.5	-	4	538	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	RIT2_ENST00000282028.4_Missense_Mutation_p.T123S|RIT2_ENST00000590910.1_Silent_p.T143T|RIT2_ENST00000589109.1_Missense_Mutation_p.T123S	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	123					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTCATAGGTGTGGCGGACC	0.493																																						ENST00000589109.1																			0				endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(367-369)Acc>Tcc		Ras-like without CAAX 2							205.0	206.0	206.0					18																	40503596		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40503596T>A	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.367A>T	18.37:g.40503596T>A	ENSP00000321805:p.Thr123Ser					RIT2_ENST00000326695.5_Missense_Mutation_p.T123S|RIT2_ENST00000590910.1_Silent_p.T143T|RIT2_ENST00000282028.4_Missense_Mutation_p.T123S	p.T123S	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN			4	538	-			123					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.367A>T	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735808	0.49045	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.70045	-0.37;-0.45	5.45	4.25	0.50352	Small GTP-binding protein domain (1);	0.083798	0.51477	N	0.000086	T	0.60379	0.2264	N	0.05177	-0.1	0.33303	D	0.565091	B;D	0.76494	0.004;0.999	B;D	0.81914	0.009;0.995	T	0.63157	-0.6700	10	0.13470	T	0.59	.	11.8882	0.52615	0.1309:0.0:0.0:0.8691	.	123;123	Q99578-2;Q99578	.;RIT2_HUMAN	S	123	ENSP00000321805:T123S;ENSP00000282028:T123S	ENSP00000282028:T123S	T	-	1	0	RIT2	38757594	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.613000	0.61176	0.958000	0.37956	0.533000	0.62120	ACC		0.493	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		64	111	0	0	0	0.000147903	0	64	111				
AGMO	392636	broad.mit.edu	37	7	15430321	15430321	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:15430321T>C	ENST00000342526.3	-	8	966	c.797A>G	c.(796-798)aAt>aGt	p.N266S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	266					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTCAAATGTATTAATGGGATG	0.289																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(796-798)aAt>aGt		alkylglycerol monooxygenase							125.0	137.0	133.0					7																	15430321		2202	4298	6500	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430321T>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.797A>G	7.37:g.15430321T>C	ENSP00000341662:p.Asn266Ser						p.N266S	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			8	966	-			266					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.797A>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016614	0.35606	.	.	ENSG00000187546	ENST00000342526	T	0.32515	1.45	5.33	4.18	0.49190	.	0.356195	0.34879	N	0.003612	T	0.28366	0.0701	L	0.54965	1.715	0.26887	N	0.967405	B	0.16802	0.019	B	0.22601	0.04	T	0.17107	-1.0380	10	0.26408	T	0.33	-14.8569	10.522	0.44924	0.0:0.0776:0.0:0.9224	.	266	Q6ZNB7	ALKMO_HUMAN	S	266	ENSP00000341662:N266S	ENSP00000341662:N266S	N	-	2	0	AGMO	15396846	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.875000	0.56108	0.977000	0.38444	0.482000	0.46254	AAT		0.289	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		56	69	0	0	0	0.000147903	0	56	69				
BNIP3P1	319138	broad.mit.edu	37	14	28733813	28733813	+	RNA	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr14:28733813G>A	ENST00000550043.1	+	0	218									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		AGGGCTCCTGGGTAGAATTGC	0.592																																						ENST00000550043.1																			0																																																			0							g.chr14:28733813G>A			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733813G>A														0	218	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.592	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			18	26	0	0	0	7.07596e-05	0	18	26				
AGBL1	123624	broad.mit.edu	37	15	86838596	86838596	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr15:86838596G>C	ENST00000441037.2	+	16	2288	c.2193G>C	c.(2191-2193)acG>acC	p.T731T	AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000421325.2_Silent_p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.T731T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498																																						ENST00000441037.2																			1	Substitution - coding silent(1)	p.T731T(1)	prostate(1)	NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2191-2193)acG>acC		ATP/GTP binding protein-like 1							110.0	110.0	110.0					15																	86838596		1998	4176	6174	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838596G>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2193G>C	15.37:g.86838596G>C						AGBL1_ENST00000421325.2_Silent_p.T731T|AGBL1_ENST00000389298.3_Silent_p.T462T	p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2288	+			731					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2193G>C	CCDS58398.1																																																																																				0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		3	69	0	0	0	6.4e-05	0	3	69				
CEACAM8	1088	broad.mit.edu	37	19	43093666	43093666	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:43093666C>G	ENST00000244336.5	-	3	747	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	216	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTCTGTATTTCACATTCATAG	0.537																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(646-648)Gaa>Caa		carcinoembryonic antigen-related cell adhesion molecule 8							252.0	229.0	237.0					19																	43093666		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43093666C>G	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.646G>C	19.37:g.43093666C>G	ENSP00000244336:p.Glu216Gln					LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	p.E216Q	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			3	747	-		Prostate(69;0.00899)	216			Ig-like C2-type 1.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.646G>C	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	13.71	2.318451	0.40996	.	.	ENSG00000124469	ENST00000244336	T	0.03035	4.07	2.7	0.176	0.15049	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13200	0.0320	M	0.78637	2.42	0.09310	N	0.999997	D	0.71674	0.998	D	0.75020	0.985	T	0.10109	-1.0644	9	0.87932	D	0	.	4.5754	0.12230	0.0:0.5785:0.0:0.4215	.	216	P31997	CEAM8_HUMAN	Q	216	ENSP00000244336:E216Q	ENSP00000244336:E216Q	E	-	1	0	CEACAM8	47785506	0.002000	0.14202	0.093000	0.20910	0.178000	0.23041	-0.339000	0.07832	-0.004000	0.14419	0.313000	0.20887	GAA		0.537	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			4	235	0	0	0	0.00024832	0	4	235				
COL6A3	1293	broad.mit.edu	37	2	238280733	238280733	+	Missense_Mutation	SNP	C	C	A	rs201240081		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:238280733C>A	ENST00000295550.4	-	9	4379	c.3927G>T	c.(3925-3927)caG>caT	p.Q1309H	COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1109H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q902H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1108H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1103H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1103H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q1103H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q702H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1309	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACGTTGATCTGCCGCCCTC	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3925-3927)caG>caT		collagen, type VI, alpha 3							61.0	54.0	56.0					2																	238280733		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280733C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3927G>T	2.37:g.238280733C>A	ENSP00000295550:p.Gln1309His					COL6A3_ENST00000392003.2_Missense_Mutation_p.Q902H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q1103H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1103H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1108H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1109H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q702H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1103H	p.Q1309H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4379	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1309			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3927G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891762	0.33442	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.84	2.57	0.30868	von Willebrand factor, type A (3);	0.000000	0.51477	D	0.000083	D	0.85699	0.5757	L	0.58428	1.81	0.09310	N	0.999997	D;P;P;D;D	0.71674	0.997;0.747;0.869;0.997;0.998	D;P;P;D;D	0.77557	0.99;0.866;0.89;0.967;0.956	T	0.73930	-0.3827	10	0.41790	T	0.15	.	4.9214	0.13871	0.1382:0.525:0.0:0.3368	.	702;902;1103;1103;1309	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1309;1108;1103;702;1103;1109;1103;902	ENSP00000295550:Q1309H;ENSP00000315609:Q1108H;ENSP00000315873:Q1103H;ENSP00000418285:Q702H;ENSP00000386844:Q1103H;ENSP00000295546:Q1109H;ENSP00000375861:Q1103H;ENSP00000375860:Q902H	ENSP00000295550:Q1309H	Q	-	3	2	COL6A3	237945472	0.000000	0.05858	0.336000	0.25522	0.367000	0.29736	-0.915000	0.04033	0.689000	0.31550	0.655000	0.94253	CAG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		26	80	1	0	3.65163e-15	0.000147802	7.12412e-14	26	80				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			0							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	37	0	0	0	0.00024832	0	4	37				
TTC37	9652	broad.mit.edu	37	5	94858951	94858951	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:94858951C>A	ENST00000358746.2	-	18	2010	c.1712G>T	c.(1711-1713)gGa>gTa	p.G571V	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	571						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATAGTATAGTCCTCGCCTAAG	0.393																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1711-1713)gGa>gTa		tetratricopeptide repeat domain 37							182.0	177.0	179.0					5																	94858951		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94858951C>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1712G>T	5.37:g.94858951C>A	ENSP00000351596:p.Gly571Val						p.G571V	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			18	2010	-			571					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1712G>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639611	0.87760	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.80824	-1.42;-1.42	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96478	0.9354	10	0.72032	D	0.01	.	18.3902	0.90479	0.0:1.0:0.0:0.0	.	523;571	D6RCE2;Q6PGP7	.;TTC37_HUMAN	V	571;523	ENSP00000351596:G571V;ENSP00000423742:G523V	ENSP00000351596:G571V	G	-	2	0	TTC37	94884707	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.150000	0.77403	2.402000	0.81655	0.557000	0.71058	GGA		0.393	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		45	78	1	0	2.77807e-22	0.000125731	5.6324e-21	45	78				
TG	7038	broad.mit.edu	37	8	133880376	133880376	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr8:133880376C>T	ENST00000220616.4	+	2	124	c.84C>T	c.(82-84)gcC>gcT	p.A28A	TG_ENST00000377869.1_Silent_p.A28A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	28					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGGATGCCCAGCCCCTTC	0.547																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(82-84)gcC>gcT		thyroglobulin							99.0	88.0	92.0					8																	133880376		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133880376C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.84C>T	8.37:g.133880376C>T						TG_ENST00000377869.1_Silent_p.A28A	p.A28A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	2	124	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	28					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.84C>T	CCDS34944.1																																																																																				0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		13	37	0	0	0	0.000151284	0	13	37				
IL11RA	3590	broad.mit.edu	37	9	34659885	34659885	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:34659885A>C	ENST00000555003.1	+	9	2296	c.940A>C	c.(940-942)Act>Cct	p.T314P	IL11RA_ENST00000318041.9_Missense_Mutation_p.T314P|CCL27_ENST00000557161.1_5'Flank|IL11RA_ENST00000378817.4_Missense_Mutation_p.T314P|IL11RA_ENST00000602473.1_Missense_Mutation_p.T314P|IL11RA_ENST00000441545.2_Missense_Mutation_p.T314P|RP11-195F19.30_ENST00000564224.1_RNA			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	314	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GGCCTGGGGAACTCCGAGCAC	0.592																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(940-942)Act>Cct		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						41.0	44.0	43.0					9																	34659885		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34659885A>C	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.940A>C	9.37:g.34659885A>C	ENSP00000450565:p.Thr314Pro					IL11RA_ENST00000318041.9_Missense_Mutation_p.T314P|IL11RA_ENST00000602473.1_Missense_Mutation_p.T314P|IL11RA_ENST00000441545.2_Missense_Mutation_p.T314P|IL11RA_ENST00000378817.4_Missense_Mutation_p.T314P	p.T314P			Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	9	2296	+	all_epithelial(49;0.102)		314					Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.940A>C	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262533	0.80358	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000378817;ENST00000318041	T;T;T;T	0.43294	1.13;1.13;0.95;1.13	5.48	5.48	0.80851	.	0.264995	0.41823	D	0.000807	T	0.65595	0.2706	M	0.80183	2.485	0.42176	D	0.991662	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.70594	-0.4829	10	0.62326	D	0.03	-10.0789	13.5135	0.61526	1.0:0.0:0.0:0.0	.	314;314	Q5VZ79;Q14626	.;I11RA_HUMAN	P	314	ENSP00000450565:T314P;ENSP00000394391:T314P;ENSP00000368094:T314P;ENSP00000326500:T314P	ENSP00000326500:T314P	T	+	1	0	IL11RA	34649885	0.973000	0.33851	0.591000	0.28745	0.959000	0.62525	5.874000	0.69652	2.073000	0.62155	0.460000	0.39030	ACT		0.592	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		16	29	0	0	0	0.000566183	0	16	29				
TRIM7	81786	broad.mit.edu	37	5	180622520	180622520	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:180622520C>T	ENST00000274773.7	-	7	1243	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Silent_p.S186S|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Silent_p.S212S|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000393315.1_Silent_p.S186S|TRIM7_ENST00000422067.2_Silent_p.S186S	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GATGCCGGCCCGAGGAGAAGC	0.706																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(556-558)tcG>tcA		tripartite motif containing 7							23.0	26.0	25.0					5																	180622520		2181	4262	6443	SO:0001819	synonymous_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622520C>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1182G>A	5.37:g.180622520C>T						CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000274773.7_Silent_p.S394S|TRIM7_ENST00000422067.2_Silent_p.S186S|TRIM7_ENST00000393319.3_Silent_p.S212S|TRIM7_ENST00000361809.3_Silent_p.S186S|TRIM7_ENST00000504241.1_5'UTR	p.S186S	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1255	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	394					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	ENST00000274773.7	37	c.558G>A	CCDS4462.1																																																																																				0.706	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		8	58	0	0	0	0.000157383	0	8	58				
KRT5	3852	broad.mit.edu	37	12	52913586	52913586	+	Silent	SNP	C	C	T	rs267607456		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:52913586C>T	ENST00000252242.4	-	1	885	c.495G>A	c.(493-495)agG>agA	p.R165R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	165	Head.		R -> S (in DM-EBS). {ECO:0000269|PubMed:21623745}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(493-495)agG>agA		keratin 5							179.0	171.0	174.0					12																	52913586		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913586C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.495G>A	12.37:g.52913586C>T							p.R165R	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	885	-			165			Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.495G>A	CCDS8830.1																																																																																				0.522	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			7	148	0	0	0	0.000274275	0	7	148				
COL6A2	1292	broad.mit.edu	37	21	47552224	47552224	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr21:47552224G>A	ENST00000300527.4	+	28	2922	c.2818G>A	c.(2818-2820)Gca>Aca	p.A940T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	940	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGGAGGCACGCAGAGCTGTC	0.657																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2818-2820)Gca>Aca		collagen, type VI, alpha 2							34.0	36.0	35.0					21																	47552224		2201	4299	6500	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552224G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2818G>A	21.37:g.47552224G>A	ENSP00000300527:p.Ala940Thr						p.A940T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2922	+	Breast(49;0.245)		940			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2818G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760209	0.49468	.	.	ENSG00000142173	ENST00000300527	T	0.79454	-1.27	4.16	4.16	0.48862	von Willebrand factor, type A (3);	0.000000	0.85682	U	0.000000	D	0.86719	0.6000	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.85291	0.1067	10	0.22706	T	0.39	-21.4829	16.468	0.84090	0.0:0.0:1.0:0.0	.	940	P12110	CO6A2_HUMAN	T	940	ENSP00000300527:A940T	ENSP00000300527:A940T	A	+	1	0	COL6A2	46376652	1.000000	0.71417	0.935000	0.37517	0.035000	0.12851	9.525000	0.98039	1.881000	0.54492	0.297000	0.19635	GCA		0.657	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			9	19	0	0	0	0.00010058	0	9	19				
ZIC1	7545	broad.mit.edu	37	3	147128058	147128058	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:147128058G>A	ENST00000282928.4	+	1	888	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	53					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACCCCAGTTCGCACGAGCTGG	0.721																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(157-159)tcG>tcA		Zic family member 1							28.0	31.0	30.0					3																	147128058		2198	4293	6491	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128058G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.159G>A	3.37:g.147128058G>A							p.S53S	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	888	+			53					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.159G>A	CCDS3136.1																																																																																				0.721	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		22	33	0	0	0	0.000229342	0	22	33				
HELZ2	85441	broad.mit.edu	37	20	62198473	62198473	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr20:62198473C>T	ENST00000467148.1	-	6	2307	c.2238G>A	c.(2236-2238)acG>acA	p.T746T	HELZ2_ENST00000427522.2_Silent_p.T177T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	746	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAATGGCGTCCGTGCAGCGGT	0.662																																						ENST00000467148.1																			0											c.(2236-2238)acG>acA		helicase with zinc finger 2, transcriptional coactivator							63.0	61.0	62.0					20																	62198473		2202	4299	6501	SO:0001819	synonymous_variant	85441							g.chr20:62198473C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2238G>A	20.37:g.62198473C>T						HELZ2_ENST00000427522.2_Silent_p.T177T	p.T746T	NM_001037335.2	NP_001032412.2					6	2307	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.2238G>A	CCDS33508.1																																																																																				0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		39	72	0	0	0	0.000374591	0	39	72				
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A	rs201197388		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr2:198949565G>A	ENST00000428675.1	+	2	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	442	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1324-1326)Gtt>Att		phospholipase C-like 1	Quinacrine(DB01103)	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	62.0	59.0	60.0		1324	1.0	1.0	2		60	0,8600		0,0,4300	no	missense	PLCL1	NM_006226.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	442/1096	198949565	1,13005	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949565G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1324G>A	2.37:g.198949565G>A	ENSP00000402861:p.Val442Ile					PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	p.V442I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1722	+			442			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1324G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	g	2.384	-0.341507	0.05243	2.27E-4	0.0	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.55413	0.52;0.52	5.94	1.05	0.20165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.279290	0.31031	N	0.008399	T	0.30696	0.0773	N	0.13235	0.315	0.22940	N	0.998531	B;B	0.21147	0.052;0.021	B;B	0.24006	0.05;0.05	T	0.18871	-1.0323	9	.	.	.	.	9.6222	0.39727	0.7455:0.0:0.2545:0.0	.	442;368	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	442;344	ENSP00000402861:V442I;ENSP00000414138:V344I	.	V	+	1	0	PLCL1	198657810	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	2.516000	0.45520	0.161000	0.19458	-0.405000	0.06341	GTT		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		38	30	0	0	0	0.000109025	0	38	30				
LRTM2	654429	broad.mit.edu	37	12	1943779	1943779	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:1943779C>T	ENST00000543818.1	+	5	1847	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	LRTM2_ENST00000535041.1_Silent_p.Y335Y|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.Y335Y|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	335						integral component of membrane (GO:0016021)		p.Y335Y(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGCATCTACGCCTCCCTCA	0.637																																						ENST00000543818.1																			2	Substitution - coding silent(2)	p.Y335Y(2)	ovary(1)|lung(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1003-1005)taC>taT		leucine-rich repeats and transmembrane domains 2							44.0	40.0	42.0					12																	1943779		2200	4284	6484	SO:0001819	synonymous_variant	0					integral to membrane		g.chr12:1943779C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.1005C>T	12.37:g.1943779C>T						LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Silent_p.Y335Y|LRTM2_ENST00000535041.1_Silent_p.Y335Y|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron	p.Y335Y	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1847	+	Ovarian(42;0.107)		335					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.1005C>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	C	4.723	0.134459	0.09032	.	.	ENSG00000166159	ENST00000424079	.	.	.	5.3	-5.34	0.02705	.	.	.	.	.	T	0.70430	0.3223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76233	-0.3034	5	0.87932	D	0	.	15.8497	0.78921	0.0:0.2259:0.0:0.7741	.	.	.	.	C	92	.	ENSP00000394967:R92C	R	+	1	0	LRTM2	1814040	0.021000	0.18746	0.908000	0.35775	0.520000	0.34377	-0.805000	0.04530	-1.063000	0.03177	-1.036000	0.02392	CGC		0.637	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			40	40	0	0	0	0.000191422	0	40	40				
STAB2	55576	broad.mit.edu	37	12	104100607	104100607	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr12:104100607G>T	ENST00000388887.2	+	38	4238	c.4034G>T	c.(4033-4035)tGc>tTc	p.C1345F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCCCCCAATGCCAGCCCTGC	0.547																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4033-4035)tGc>tTc		stabilin 2							123.0	117.0	119.0					12																	104100607		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104100607G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4034G>T	12.37:g.104100607G>T	ENSP00000373539:p.Cys1345Phe						p.C1345F	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			38	4238	+			1345			Laminin EGF-like 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4034G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174352	0.57692	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.85258	-1.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	H	0.95294	3.65	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96017	0.9006	10	0.87932	D	0	.	19.8101	0.96543	0.0:0.0:1.0:0.0	.	1345	Q8WWQ8	STAB2_HUMAN	F	1345;32	ENSP00000373539:C1345F	ENSP00000258495:C32F	C	+	2	0	STAB2	102624737	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.151000	0.94674	2.696000	0.92011	0.655000	0.94253	TGC		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			21	45	1	0	5.26018e-13	0.000229342	1.00723e-11	21	45				
TEK	7010	broad.mit.edu	37	9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr9:27157925G>A	ENST00000380036.4	+	2	591	c.149G>A	c.(148-150)cGc>cAc	p.R50H	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	50	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R50H(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGGGTGGCGCCCCCATGAG	0.502																																						ENST00000380036.4																			1	Substitution - Missense(1)	p.R50H(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(148-150)cGc>cAc		TEK tyrosine kinase, endothelial							145.0	129.0	134.0					9																	27157925		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27157925G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.149G>A	9.37:g.27157925G>A	ENSP00000369375:p.Arg50His					TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H	p.R50H	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	591	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	50			Ig-like C2-type 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.149G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	8.919	0.960706	0.18583	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.73789	-0.75;-0.78	5.93	-2.2	0.06994	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.582526	0.15628	N	0.252547	T	0.50752	0.1634	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.31223	-0.9951	10	0.32370	T	0.25	.	12.5809	0.56390	0.5636:0.0:0.4364:0.0	.	83;50;50;50	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	H	50	ENSP00000369375:R50H;ENSP00000383977:R50H	ENSP00000343716:R50H	R	+	2	0	TEK	27147925	0.079000	0.21365	0.119000	0.21687	0.912000	0.54170	0.280000	0.18790	-0.463000	0.06973	-0.940000	0.02684	CGC		0.502	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			50	81	0	0	0	0.000147903	0	50	81				
HTR3C	170572	broad.mit.edu	37	3	183777419	183777419	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:183777419C>T	ENST00000318351.1	+	7	950	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	306					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGTGGCACCCCCCTCATCAG	0.582																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(916-918)Ccc>Tcc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							135.0	123.0	127.0					3																	183777419		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777419C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.916C>T	3.37:g.183777419C>T	ENSP00000322617:p.Pro306Ser						p.P306S	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	950	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		306					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.916C>T	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	16.16	3.045665	0.55110	.	.	ENSG00000178084	ENST00000318351	D	0.91124	-2.79	3.87	3.87	0.44632	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.131112	0.52532	N	0.000077	D	0.92031	0.7475	M	0.67625	2.065	0.44816	D	0.997822	P	0.45011	0.848	P	0.51297	0.665	D	0.92835	0.6283	10	0.66056	D	0.02	.	13.3708	0.60711	0.0:1.0:0.0:0.0	.	306	Q8WXA8	5HT3C_HUMAN	S	306	ENSP00000322617:P306S	ENSP00000322617:P306S	P	+	1	0	HTR3C	185260113	1.000000	0.71417	0.981000	0.43875	0.219000	0.24729	7.346000	0.79347	2.009000	0.58944	0.655000	0.94253	CCC		0.582	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		10	133	0	0	0	0.00010058	0	10	133				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	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		23	34	0	0	0	0.000229342	0	23	34				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	65	0	0	0	1.23904e-05	0	5	65				
SHROOM1	134549	broad.mit.edu	37	5	132158517	132158517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:132158517G>A	ENST00000378679.3	-	10	3334	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.Q839*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.Q775*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	844					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGGCGGCTGAACTGGAGGA	0.622																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(2530-2532)Cag>Tag		shroom family member 1							28.0	31.0	30.0					5																	132158517		2199	4299	6498	SO:0001587	stop_gained	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158517G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2530C>T	5.37:g.132158517G>A	ENSP00000367950:p.Gln844*					SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.Q839*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.Q775*	p.Q844*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	3334	-			844					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Nonsense_Mutation	SNP	ENST00000378679.3	37	c.2530C>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574161	0.86542	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	.	.	.	4.03	-2.63	0.06133	.	1.556200	0.03641	N	0.239593	.	.	.	.	.	.	0.26134	N	0.980374	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.3457	4.6822	0.12741	0.0:0.2992:0.3504:0.3504	.	.	.	.	X	844;839;775	.	ENSP00000324245:Q839X	Q	-	1	0	SHROOM1	132186416	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.105000	0.10907	-0.478000	0.06823	-1.193000	0.01689	CAG		0.622	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		15	17	0	0	0	0.000422831	0	15	17				
GRIN2D	2906	broad.mit.edu	37	19	48908178	48908178	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:48908178G>A	ENST00000263269.3	+	3	741	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	218					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGGAGCACCGCGGAGCGCTG	0.682																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(652-654)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						79.0	78.0	79.0					19																	48908178		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908178G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.653G>A	19.37:g.48908178G>A	ENSP00000263269:p.Arg218His						p.R218H	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	741	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	218						Missense_Mutation	SNP	ENST00000263269.3	37	c.653G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113261	0.77210	.	.	ENSG00000105464	ENST00000263269	D	0.93859	-3.3	4.94	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.141001	0.45606	D	0.000348	D	0.93897	0.8047	L	0.29908	0.895	0.40641	D	0.981945	D	0.76494	0.999	D	0.66602	0.945	D	0.94139	0.7395	10	0.44086	T	0.13	.	17.3107	0.87208	0.0:0.0:1.0:0.0	.	218	O15399	NMDE4_HUMAN	H	218	ENSP00000263269:R218H	ENSP00000263269:R218H	R	+	2	0	GRIN2D	53599990	0.996000	0.38824	0.999000	0.59377	0.867000	0.49689	3.348000	0.52209	2.457000	0.83068	0.561000	0.74099	CGC		0.682	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			10	131	0	0	0	3.86212e-05	0	10	131				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	38	0	0	0	6.4e-05	0	3	38				
KBTBD8	84541	broad.mit.edu	37	3	67058637	67058637	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:67058637T>C	ENST00000417314.2	+	4	1683	c.1634T>C	c.(1633-1635)gTt>gCt	p.V545A	KBTBD8_ENST00000295568.4_Missense_Mutation_p.V519A|KBTBD8_ENST00000460576.1_Missense_Mutation_p.V103A			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	545						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CAAGTGACTGTTGAAGAACAC	0.403																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1555-1557)gTt>gCt		kelch repeat and BTB (POZ) domain containing 8							112.0	109.0	110.0					3																	67058637		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058637T>C	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1634T>C	3.37:g.67058637T>C	ENSP00000401878:p.Val545Ala					KBTBD8_ENST00000460576.1_Missense_Mutation_p.V103A|KBTBD8_ENST00000417314.2_Missense_Mutation_p.V545A	p.V519A	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1687	+		Lung NSC(201;0.0765)	545					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1556T>C	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861749	0.51482	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.71934	-0.61;-0.48;-0.61	5.37	5.37	0.77165	Kelch-type beta propeller (1);	1.149780	0.06215	N	0.685764	T	0.66406	0.2786	N	0.24115	0.695	0.80722	D	1	P;P	0.49961	0.915;0.93	B;P	0.48627	0.441;0.584	T	0.54173	-0.8333	10	0.08599	T	0.76	.	15.3743	0.74593	0.0:0.0:0.0:1.0	.	103;545	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	A	519;103;545	ENSP00000295568:V519A;ENSP00000419738:V103A;ENSP00000401878:V545A	ENSP00000295568:V519A	V	+	2	0	KBTBD8	67141327	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.008000	0.88588	2.041000	0.60428	0.528000	0.53228	GTT		0.403	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		9	79	0	0	0	0.000442599	0	9	79				
UMOD	7369	broad.mit.edu	37	16	20355366	20355366	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr16:20355366G>A	ENST00000570689.1	-	6	1457	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000396134.2_Silent_p.T470T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T|UMOD_ENST00000396138.4_Silent_p.T486T			P07911	UROM_HUMAN	uromodulin	437	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCTGTAGGGCGGTCTTCAGGC	0.537																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1408-1410)acC>acT		uromodulin							120.0	102.0	108.0					16																	20355366		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355366G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1311C>T	16.37:g.20355366G>A						UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000396138.4_Silent_p.T486T|UMOD_ENST00000570689.1_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T	p.T470T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			7	1533	-			437			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1410C>T	CCDS10583.1																																																																																				0.537	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			22	43	0	0	0	0.000229342	0	22	43				
PCDHB8	56128	broad.mit.edu	37	5	140559327	140559327	+	Missense_Mutation	SNP	C	C	T	rs141057693		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:140559327C>T	ENST00000239444.2	+	1	1957	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	571	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGCTCCGCGCCCTGCACC	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		18043	0.0		0.0	False		,,,				2504	0.001					ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1711-1713)gCg>gTg				C	VAL/ALA	0,4348		0,0,2174	12.0	21.0	18.0		1712	2.4	0.6	5	dbSNP_134	18	5,8507		0,5,4251	no	missense	PCDHB8	NM_019120.3	64	0,5,6425	TT,TC,CC		0.0587,0.0,0.0389	benign	571/802	140559327	5,12855	2174	4256	6430	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559327C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1712C>T	5.37:g.140559327C>T	ENSP00000239444:p.Ala571Val						p.A571V	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1957	+			571			Cadherin 6.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1712C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667065	0.29604	0.0	5.87E-4	ENSG00000120322	ENST00000239444	T	0.60299	0.2	4.22	2.41	0.29592	Cadherin-like (1);	.	.	.	.	T	0.56978	0.2022	M	0.78456	2.415	0.09310	N	1	B	0.19583	0.037	B	0.24269	0.052	T	0.54214	-0.8327	9	0.62326	D	0.03	.	7.3544	0.26711	0.0:0.6364:0.0:0.3636	.	571	Q9UN66	PCDB8_HUMAN	V	571	ENSP00000239444:A571V	ENSP00000239444:A571V	A	+	2	0	PCDHB8	140539511	0.000000	0.05858	0.597000	0.28824	0.610000	0.37248	0.303000	0.19210	0.260000	0.21731	0.298000	0.19748	GCG		0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		45	184	0	0	0	0.000147903	0	45	184				
AHI1	54806	broad.mit.edu	37	6	135784313	135784313	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:135784313T>C	ENST00000367800.4	-	6	1097	c.881A>G	c.(880-882)cAa>cGa	p.Q294R	AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R|AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	294	Interaction with HAP1.				cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.Q294R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGTATCATCTTGCATGCTGTC	0.313																																						ENST00000367800.4																			1	Substitution - Missense(1)	p.Q294R(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(880-882)cAa>cGa		Abelson helper integration site 1							129.0	114.0	119.0					6																	135784313		1852	4103	5955	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135784313T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.881A>G	6.37:g.135784313T>C	ENSP00000356774:p.Gln294Arg					AHI1_ENST00000457866.2_Missense_Mutation_p.Q294R|AHI1_ENST00000327035.6_Missense_Mutation_p.Q294R	p.Q294R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	6	1097	-	Breast(56;0.239)|Colorectal(23;0.24)		294					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.881A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	3.317	-0.139492	0.06669	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602;ENST00000327035;ENST00000367801;ENST00000524469	T;T;T;T;T	0.57107	0.42;0.42;0.42;1.63;0.93	4.34	2.06	0.26882	.	0.686507	0.13895	N	0.355342	T	0.26376	0.0644	L	0.51422	1.61	0.58432	D	0.999999	B;B	0.31125	0.145;0.309	B;B	0.21708	0.036;0.026	T	0.16512	-1.0400	10	0.66056	D	0.02	-4.9798	8.9169	0.35587	0.0:0.0:0.507:0.493	.	294;294	Q8N157-2;Q8N157	.;AHI1_HUMAN	R	294;294;294;294;294;276	ENSP00000356774:Q294R;ENSP00000388650:Q294R;ENSP00000265602:Q294R;ENSP00000322478:Q294R;ENSP00000433063:Q276R	ENSP00000265602:Q294R	Q	-	2	0	AHI1	135826006	0.083000	0.21467	0.245000	0.24217	0.019000	0.09904	1.142000	0.31540	0.484000	0.27630	0.383000	0.25322	CAA		0.313	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		4	63	0	0	0	0.00024832	0	4	63				
STEAP2	261729	broad.mit.edu	37	7	89856412	89856412	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr7:89856412G>T	ENST00000287908.3	+	3	1013	c.620G>T	c.(619-621)cGa>cTa	p.R207L	STEAP2_ENST00000394626.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394621.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394629.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394622.2_Missense_Mutation_p.R207L|STEAP2_ENST00000402625.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394632.1_Missense_Mutation_p.R207L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	207					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTACCCCTACGACTCTTTACT	0.438																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(619-621)cGa>cTa		STEAP family member 2, metalloreductase							103.0	99.0	100.0					7																	89856412		2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856412G>T	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.620G>T	7.37:g.89856412G>T	ENSP00000287908:p.Arg207Leu					STEAP2_ENST00000394621.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394622.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394629.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394626.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394632.1_Missense_Mutation_p.R207L|STEAP2_ENST00000402625.2_Missense_Mutation_p.R207L	p.R207L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1013	+	all_hematologic(106;0.112)		207					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.620G>T	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722966	0.48728	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45	6.08	4.3	0.51218	.	0.219115	0.42294	D	0.000737	T	0.12178	0.0296	L	0.33485	1.01	0.38776	D	0.954655	P;B;P;P	0.36733	0.567;0.431;0.552;0.552	B;B;B;B	0.31191	0.061;0.03;0.125;0.086	T	0.12319	-1.0552	9	.	.	.	-4.163	13.1287	0.59369	0.1293:0.0:0.8707:0.0	.	207;207;207;207	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	L	207	ENSP00000287908:R207L;ENSP00000378123:R207L;ENSP00000378120:R207L;ENSP00000378128:R207L;ENSP00000378119:R207L;ENSP00000384191:R207L;ENSP00000378125:R207L	.	R	+	2	0	STEAP2	89694348	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	2.680000	0.46918	0.915000	0.36847	-0.137000	0.14449	CGA		0.438	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		24	37	1	0	4.4004e-07	0.00047179	8.27276e-06	24	37				
JARID2	3720	broad.mit.edu	37	6	15513524	15513524	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:15513524C>T	ENST00000341776.2	+	16	3565	c.3321C>T	c.(3319-3321)tcC>tcT	p.S1107S	JARID2_ENST00000397311.3_Silent_p.S935S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1107					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCACTCCTCCGCACGCTATG	0.637																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(3319-3321)tcC>tcT		jumonji, AT rich interactive domain 2							26.0	23.0	24.0					6																	15513524		2177	4232	6409	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15513524C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3321C>T	6.37:g.15513524C>T						JARID2_ENST00000397311.3_Silent_p.S935S	p.S1107S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			16	3565	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1107					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.3321C>T	CCDS4533.1																																																																																				0.637	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		15	14	0	0	0	0.000308642	0	15	14				
KRTAP10-3	386682	broad.mit.edu	37	21	45978232	45978232	+	Missense_Mutation	SNP	T	T	C	rs587619630	byFrequency	TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr21:45978232T>C	ENST00000391620.1	-	1	411	c.367A>G	c.(367-369)Atc>Gtc	p.I123V	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	123	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				kidney(1)|lung(4)|prostate(1)|skin(1)	7						acacagcagatgggcttgcag	0.652													T|||	3	0.000599042	0.0015	0.0014	5008	,	,		17583	0.0		0.0	False		,,,				2504	0.0					ENST00000391620.1																			0				kidney(1)|lung(4)|prostate(1)|skin(1)	7						c.(367-369)Atc>Gtc		keratin associated protein 10-3							164.0	164.0	164.0					21																	45978232		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978232T>C	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.367A>G	21.37:g.45978232T>C	ENSP00000375478:p.Ile123Val					TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.I123V	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN			1	411	-			123			18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.367A>G	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.850393	0.00066	.	.	ENSG00000212935	ENST00000391620	T	0.01209	5.17	3.53	1.68	0.24146	.	.	.	.	.	T	0.00440	0.0014	N	0.00765	-1.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	9	0.02654	T	1	.	7.2709	0.26256	0.0:0.7638:0.0:0.2362	.	123	P60369	KR103_HUMAN	V	123	ENSP00000375478:I123V	ENSP00000375478:I123V	I	-	1	0	KRTAP10-3	44802660	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-1.913000	0.01580	0.822000	0.34565	-0.232000	0.12228	ATC		0.652	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			5	306	0	0	0	0.000274275	0	5	306				
HIST1H1E	3008	broad.mit.edu	37	6	26156708	26156708	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr6:26156708G>C	ENST00000304218.3	+	1	150	c.90G>C	c.(88-90)gcG>gcC	p.A30A	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	30					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTGCAGGTGCGGCCAAGCGCA	0.642																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(88-90)gcG>gcC		histone cluster 1, H1e							27.0	35.0	33.0					6																	26156708		2193	4290	6483	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156708G>C	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.90G>C	6.37:g.26156708G>C							p.A30A	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	150	+			30					Q4VB25	Silent	SNP	ENST00000304218.3	37	c.90G>C	CCDS4586.1																																																																																				0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		47	72	0	0	0	0.000589545	0	47	72				
FRG1B	284802	broad.mit.edu	37	20	29628261	29628261	+	Missense_Mutation	SNP	T	T	C	rs111331725		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr20:29628261T>C	ENST00000278882.3	+	6	643	c.263T>C	c.(262-264)tTt>tCt	p.F88S	FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S|FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	88										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATAGCTGCTTTATTAGATGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(262-264)tTt>tCt																																						SO:0001583	missense	0							g.chr20:29628261T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.263T>C	20.37:g.29628261T>C	ENSP00000278882:p.Phe88Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.F93S|FRG1B_ENST00000358464.4_Missense_Mutation_p.F88S	p.F88S							6	643	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.263T>C		.	.	.	.	.	.	.	.	.	.	t	18.59	3.656788	0.67586	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.66995	-0.24	2.08	2.08	0.27032	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.78071	0.4226	.	.	.	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.78585	-0.2147	9	0.87932	D	0	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	93;88	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	88;93;88	ENSP00000408863:F93S	ENSP00000278882:F88S	F	+	2	0	FRG1B	28241922	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	61	0	0	0	0.000442599	0	6	61				
KRTAP5-11	440051	broad.mit.edu	37	11	71293827	71293827	+	Silent	SNP	G	G	A	rs373629079		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:71293827G>A	ENST00000398530.1	-	1	94	c.57C>T	c.(55-57)tcC>tcT	p.S19S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	19						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACTGCCGGAGCCACAGC	0.632																																						ENST00000398530.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(55-57)tcC>tcT		keratin associated protein 5-11		G		1,4377		0,1,2188	32.0	45.0	41.0		57	-0.1	0.9	11		41	1,8579		0,1,4289	no	coding-synonymous	KRTAP5-11	NM_001005405.2		0,2,6477	AA,AG,GG		0.0117,0.0228,0.0154		19/157	71293827	2,12956	2189	4290	6479	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293827G>A	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.57C>T	11.37:g.71293827G>A						AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	p.S19S	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN			1	94	-			19						Silent	SNP	ENST00000398530.1	37	c.57C>T	CCDS41685.1																																																																																				0.632	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		18	68	0	0	0	0.000132079	0	18	68				
OR2G3	81469	broad.mit.edu	37	1	247769085	247769085	+	Silent	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr1:247769085C>G	ENST00000320002.2	+	1	230	c.198C>G	c.(196-198)ctC>ctG	p.L66L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAGCAACCTCTCTTTACTGG	0.458																																						ENST00000320002.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(196-198)ctC>ctG		olfactory receptor, family 2, subfamily G, member 3							276.0	262.0	267.0					1																	247769085		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769085C>G	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.198C>G	1.37:g.247769085C>G						RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.L66L	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	230	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		66					B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.198C>G	CCDS31093.1																																																																																				0.458	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			4	324	0	0	0	0.00024832	0	4	324				
IL7R	3575	broad.mit.edu	37	5	35875685	35875685	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr5:35875685G>C	ENST00000303115.3	+	7	1001	c.872G>C	c.(871-873)aGa>aCa	p.R291T	IL7R_ENST00000506850.1_Missense_Mutation_p.E260Q|IL7R_ENST00000343305.4_Missense_Mutation_p.E260Q	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	291					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAAACCAAGAAAAGTGAGT	0.413			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(871-873)aGa>aCa		interleukin 7 receptor							85.0	83.0	84.0					5																	35875685		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35875685G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.872G>C	5.37:g.35875685G>C	ENSP00000306157:p.Arg291Thr					IL7R_ENST00000506850.1_Missense_Mutation_p.E260Q|IL7R_ENST00000343305.4_Missense_Mutation_p.E260Q	p.R291T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		7	1001	+	all_lung(31;0.00015)		291					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.872G>C	CCDS3911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.174595|2.174595	0.38413|0.38413	.|.	.|.	ENSG00000168685|ENSG00000168685	ENST00000343305;ENST00000506850;ENST00000505093|ENST00000303115;ENST00000505875	T;T|T;T	0.49139|0.32023	0.79;0.8|1.96;1.47	5.77|5.77	3.34|3.34	0.38264|0.38264	.|.	.|0.320874	.|0.33217	.|N	.|0.005160	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.14661|0.14661	0.345|0.345	0.21290|0.21290	N|N	0.999731|0.999731	B|B	0.19583|0.02656	0.037|0.0	B|B	0.14578|0.01281	0.011|0.0	T|T	0.18618|0.18618	-1.0331|-1.0331	9|10	0.34782|0.72032	T|D	0.22|0.01	-13.2858|-13.2858	3.8533|3.8533	0.08965|0.08965	0.7088:0.0:0.1059:0.1852|0.7088:0.0:0.1059:0.1852	.|.	260|291	D6RGV2|P16871	.|IL7RA_HUMAN	Q|T	260;260;63|291;57	ENSP00000345819:E260Q;ENSP00000421207:E260Q|ENSP00000306157:R291T;ENSP00000420923:R57T	ENSP00000345819:E260Q|ENSP00000306157:R291T	E|R	+|+	1|2	0|0	IL7R|IL7R	35911442|35911442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	1.534000|1.534000	0.36051|0.36051	0.419000|0.419000	0.25927|0.25927	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.413	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			11	20	0	0	0	0.000151284	0	11	20				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	49	0	0	0	6.4e-05	0	3	49				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	111	0	0	0	6.4e-05	0	3	111				
MAP3K3	4215	broad.mit.edu	37	17	61759152	61759152	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr17:61759152C>T	ENST00000361733.3	+	7	849	c.529C>T	c.(529-531)Cct>Tct	p.P177S	MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000361357.3_Missense_Mutation_p.P208S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	177					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGAAGCTCACCTCCCCCTGG	0.607																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(622-624)Cct>Tct		mitogen-activated protein kinase kinase kinase 3							99.0	91.0	94.0					17																	61759152		2203	4300	6503	SO:0001583	missense	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61759152C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.529C>T	17.37:g.61759152C>T	ENSP00000354485:p.Pro177Ser					MAP3K3_ENST00000361733.3_Missense_Mutation_p.P177S|MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S	p.P208S	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			8	940	+			177					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Missense_Mutation	SNP	ENST00000361733.3	37	c.622C>T	CCDS32702.1	.	.	.	.	.	.	.	.	.	.	C	32	5.158497	0.94686	.	.	ENSG00000198909	ENST00000361357;ENST00000361733	T;T	0.75938	-0.98;-0.93	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.87601	0.6218	M	0.79926	2.475	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.88505	0.3085	10	0.87932	D	0	.	19.6853	0.95977	0.0:1.0:0.0:0.0	.	177;145;177;208	Q1PBM3;Q96HN9;Q99759;Q99759-2	.;.;M3K3_HUMAN;.	S	208;177	ENSP00000354927:P208S;ENSP00000354485:P177S	ENSP00000354927:P208S	P	+	1	0	MAP3K3	59112884	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.744000	0.85034	2.737000	0.93849	0.561000	0.74099	CCT		0.607	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		43	62	0	0	0	0.00195071	0	43	62				
RIT2	6014	broad.mit.edu	37	18	40503596	40503596	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr18:40503596T>A	ENST00000326695.5	-	4	538	c.367A>T	c.(367-369)Acc>Tcc	p.T123S	RIT2_ENST00000282028.4_Missense_Mutation_p.T123S|RIT2_ENST00000590910.1_Silent_p.T143T|RIT2_ENST00000589109.1_Missense_Mutation_p.T123S	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	123					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTCATAGGTGTGGCGGACC	0.493																																						ENST00000589109.1																			0				endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(367-369)Acc>Tcc		Ras-like without CAAX 2							205.0	206.0	206.0					18																	40503596		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40503596T>A	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.367A>T	18.37:g.40503596T>A	ENSP00000321805:p.Thr123Ser					RIT2_ENST00000282028.4_Missense_Mutation_p.T123S|RIT2_ENST00000326695.5_Missense_Mutation_p.T123S|RIT2_ENST00000590910.1_Silent_p.T143T	p.T123S	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN			4	538	-			123					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.367A>T	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.735808	0.49045	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.70045	-0.37;-0.45	5.45	4.25	0.50352	Small GTP-binding protein domain (1);	0.083798	0.51477	N	0.000086	T	0.60379	0.2264	N	0.05177	-0.1	0.33303	D	0.565091	B;D	0.76494	0.004;0.999	B;D	0.81914	0.009;0.995	T	0.63157	-0.6700	10	0.13470	T	0.59	.	11.8882	0.52615	0.1309:0.0:0.0:0.8691	.	123;123	Q99578-2;Q99578	.;RIT2_HUMAN	S	123	ENSP00000321805:T123S;ENSP00000282028:T123S	ENSP00000282028:T123S	T	-	1	0	RIT2	38757594	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.613000	0.61176	0.958000	0.37956	0.533000	0.62120	ACC		0.493	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		64	111	0	0	0	0.000781405	0	64	111				
AGMO	392636	broad.mit.edu	37	7	15430321	15430321	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr7:15430321T>C	ENST00000342526.3	-	8	966	c.797A>G	c.(796-798)aAt>aGt	p.N266S		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	266					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TTCAAATGTATTAATGGGATG	0.289																																						ENST00000342526.3																			0				breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						c.(796-798)aAt>aGt		alkylglycerol monooxygenase							125.0	137.0	133.0					7																	15430321		2202	4298	6500	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15430321T>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.797A>G	7.37:g.15430321T>C	ENSP00000341662:p.Asn266Ser						p.N266S	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN			8	966	-			266					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.797A>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.016614	0.35606	.	.	ENSG00000187546	ENST00000342526	T	0.32515	1.45	5.33	4.18	0.49190	.	0.356195	0.34879	N	0.003612	T	0.28366	0.0701	L	0.54965	1.715	0.26887	N	0.967405	B	0.16802	0.019	B	0.22601	0.04	T	0.17107	-1.0380	10	0.26408	T	0.33	-14.8569	10.522	0.44924	0.0:0.0776:0.0:0.9224	.	266	Q6ZNB7	ALKMO_HUMAN	S	266	ENSP00000341662:N266S	ENSP00000341662:N266S	N	-	2	0	AGMO	15396846	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.875000	0.56108	0.977000	0.38444	0.482000	0.46254	AAT		0.289	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		56	69	0	0	0	0.000781405	0	56	69				
LOC728323	728323	broad.mit.edu	37	2	243056808	243056808	+	RNA	SNP	T	T	A	rs62192205		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr2:243056808T>A	ENST00000456398.1	+	0	329																											ATAGCGAAGATGGAGAAATAC	0.279																																						ENST00000456398.1																			0																																																			0							g.chr2:243056808T>A																													2.37:g.243056808T>A														0	329	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.279	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			3	51	0	0	0	6.4e-05	0	3	51				
BNIP3P1	319138	broad.mit.edu	37	14	28733813	28733813	+	RNA	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr14:28733813G>A	ENST00000550043.1	+	0	218									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		AGGGCTCCTGGGTAGAATTGC	0.592																																						ENST00000550043.1																			0																																																			0							g.chr14:28733813G>A			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733813G>A														0	218	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.592	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			18	26	0	0	0	0.00074312	0	18	26				
CEACAM8	1088	broad.mit.edu	37	19	43093666	43093666	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr19:43093666C>G	ENST00000244336.5	-	3	747	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	216	Ig-like C2-type 1.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TTCTGTATTTCACATTCATAG	0.537																																						ENST00000244336.5																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16						c.(646-648)Gaa>Caa		carcinoembryonic antigen-related cell adhesion molecule 8							252.0	229.0	237.0					19																	43093666		2203	4300	6503	SO:0001583	missense	1088				immune response	anchored to membrane|extracellular space|integral to plasma membrane		g.chr19:43093666C>G	D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.646G>C	19.37:g.43093666C>G	ENSP00000244336:p.Glu216Gln					CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	p.E216Q	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN			3	747	-		Prostate(69;0.00899)	216			Ig-like C2-type 1.		O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	c.646G>C	CCDS12610.1	.	.	.	.	.	.	.	.	.	.	c	13.71	2.318451	0.40996	.	.	ENSG00000124469	ENST00000244336	T	0.03035	4.07	2.7	0.176	0.15049	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13200	0.0320	M	0.78637	2.42	0.09310	N	0.999997	D	0.71674	0.998	D	0.75020	0.985	T	0.10109	-1.0644	9	0.87932	D	0	.	4.5754	0.12230	0.0:0.5785:0.0:0.4215	.	216	P31997	CEAM8_HUMAN	Q	216	ENSP00000244336:E216Q	ENSP00000244336:E216Q	E	-	1	0	CEACAM8	47785506	0.002000	0.14202	0.093000	0.20910	0.178000	0.23041	-0.339000	0.07832	-0.004000	0.14419	0.313000	0.20887	GAA		0.537	CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1			4	235	0	0	0	0.00024832	0	4	235				
COL6A3	1293	broad.mit.edu	37	2	238280733	238280733	+	Missense_Mutation	SNP	C	C	A	rs201240081		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr2:238280733C>A	ENST00000295550.4	-	9	4379	c.3927G>T	c.(3925-3927)caG>caT	p.Q1309H	COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1109H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q902H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1108H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1103H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1103H|COL6A3_ENST00000392004.3_Missense_Mutation_p.Q1103H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q702H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1309	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCACGTTGATCTGCCGCCCTC	0.617																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(3925-3927)caG>caT		collagen, type VI, alpha 3							61.0	54.0	56.0					2																	238280733		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238280733C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3927G>T	2.37:g.238280733C>A	ENSP00000295550:p.Gln1309His					COL6A3_ENST00000392004.3_Missense_Mutation_p.Q1103H|COL6A3_ENST00000472056.1_Missense_Mutation_p.Q702H|COL6A3_ENST00000347401.3_Missense_Mutation_p.Q1108H|COL6A3_ENST00000392003.2_Missense_Mutation_p.Q902H|COL6A3_ENST00000409809.1_Missense_Mutation_p.Q1103H|COL6A3_ENST00000353578.4_Missense_Mutation_p.Q1103H|COL6A3_ENST00000346358.4_Missense_Mutation_p.Q1109H	p.Q1309H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	9	4379	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1309			Nonhelical region.|VWFA 7.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3927G>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891762	0.33442	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.84	2.57	0.30868	von Willebrand factor, type A (3);	0.000000	0.51477	D	0.000083	D	0.85699	0.5757	L	0.58428	1.81	0.09310	N	0.999997	D;P;P;D;D	0.71674	0.997;0.747;0.869;0.997;0.998	D;P;P;D;D	0.77557	0.99;0.866;0.89;0.967;0.956	T	0.73930	-0.3827	10	0.41790	T	0.15	.	4.9214	0.13871	0.1382:0.525:0.0:0.3368	.	702;902;1103;1103;1309	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1309;1108;1103;702;1103;1109;1103;902	ENSP00000295550:Q1309H;ENSP00000315609:Q1108H;ENSP00000315873:Q1103H;ENSP00000418285:Q702H;ENSP00000386844:Q1103H;ENSP00000295546:Q1109H;ENSP00000375861:Q1103H;ENSP00000375860:Q902H	ENSP00000295550:Q1309H	Q	-	3	2	COL6A3	237945472	0.000000	0.05858	0.336000	0.25522	0.367000	0.29736	-0.915000	0.04033	0.689000	0.31550	0.655000	0.94253	CAG		0.617	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		26	80	1	0	3.65163e-15	0.00106085	5.32407e-14	26	80				
HIST1H1E	3008	broad.mit.edu	37	6	26156708	26156708	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr6:26156708G>C	ENST00000304218.3	+	1	150	c.90G>C	c.(88-90)gcG>gcC	p.A30A	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	30					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CTGCAGGTGCGGCCAAGCGCA	0.642																																						ENST00000304218.3																			0				NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						c.(88-90)gcG>gcC		histone cluster 1, H1e							27.0	35.0	33.0					6																	26156708		2193	4290	6483	SO:0001819	synonymous_variant	3008				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26156708G>C	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.90G>C	6.37:g.26156708G>C							p.A30A	NM_005321.2	NP_005312.1	P10412	H14_HUMAN			1	150	+			30					Q4VB25	Silent	SNP	ENST00000304218.3	37	c.90G>C	CCDS4586.1																																																																																				0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321		47	72	0	0	0	0.00285205	0	47	72				
TG	7038	broad.mit.edu	37	8	133880376	133880376	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr8:133880376C>T	ENST00000220616.4	+	2	124	c.84C>T	c.(82-84)gcC>gcT	p.A28A	TG_ENST00000377869.1_Silent_p.A28A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	28					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGGATGCCCAGCCCCTTC	0.547																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(82-84)gcC>gcT		thyroglobulin							99.0	88.0	92.0					8																	133880376		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133880376C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.84C>T	8.37:g.133880376C>T						TG_ENST00000377869.1_Silent_p.A28A	p.A28A	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	2	124	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	28					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.84C>T	CCDS34944.1																																																																																				0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		13	37	0	0	0	0.00185496	0	13	37				
IL11RA	3590	broad.mit.edu	37	9	34659885	34659885	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr9:34659885A>C	ENST00000555003.1	+	9	2296	c.940A>C	c.(940-942)Act>Cct	p.T314P	IL11RA_ENST00000318041.9_Missense_Mutation_p.T314P|CCL27_ENST00000557161.1_5'Flank|IL11RA_ENST00000378817.4_Missense_Mutation_p.T314P|IL11RA_ENST00000602473.1_Missense_Mutation_p.T314P|IL11RA_ENST00000441545.2_Missense_Mutation_p.T314P|RP11-195F19.30_ENST00000564224.1_RNA			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	314	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				developmental process (GO:0032502)|embryo implantation (GO:0007566)|head development (GO:0060322)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	GGCCTGGGGAACTCCGAGCAC	0.592																																						ENST00000555003.1																			0				breast(1)|large_intestine(1)|ovary(1)|skin(1)	4						c.(940-942)Act>Cct		interleukin 11 receptor, alpha	Oprelvekin(DB00038)						41.0	44.0	43.0					9																	34659885		2203	4300	6503	SO:0001583	missense	3590					integral to plasma membrane	cytokine receptor activity	g.chr9:34659885A>C	Z38102	CCDS6567.1	9p13	2014-05-22			ENSG00000137070	ENSG00000137070		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5967	protein-coding gene	gene with protein product		600939				7670098	Standard	NM_001142784		Approved		uc011loq.3	Q14626	OTTHUMG00000019837	ENST00000555003.1:c.940A>C	9.37:g.34659885A>C	ENSP00000450565:p.Thr314Pro					IL11RA_ENST00000602473.1_Missense_Mutation_p.T314P|IL11RA_ENST00000441545.2_Missense_Mutation_p.T314P|IL11RA_ENST00000378817.4_Missense_Mutation_p.T314P|IL11RA_ENST00000318041.9_Missense_Mutation_p.T314P	p.T314P			Q14626	I11RA_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	9	2296	+	all_epithelial(49;0.102)		314					Q16542|Q5VZ80|Q7KYJ7	Missense_Mutation	SNP	ENST00000555003.1	37	c.940A>C	CCDS6567.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262533	0.80358	.	.	ENSG00000137070	ENST00000555003;ENST00000441545;ENST00000378817;ENST00000318041	T;T;T;T	0.43294	1.13;1.13;0.95;1.13	5.48	5.48	0.80851	.	0.264995	0.41823	D	0.000807	T	0.65595	0.2706	M	0.80183	2.485	0.42176	D	0.991662	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.70594	-0.4829	10	0.62326	D	0.03	-10.0789	13.5135	0.61526	1.0:0.0:0.0:0.0	.	314;314	Q5VZ79;Q14626	.;I11RA_HUMAN	P	314	ENSP00000450565:T314P;ENSP00000394391:T314P;ENSP00000368094:T314P;ENSP00000326500:T314P	ENSP00000326500:T314P	T	+	1	0	IL11RA	34649885	0.973000	0.33851	0.591000	0.28745	0.959000	0.62525	5.874000	0.69652	2.073000	0.62155	0.460000	0.39030	ACT		0.592	IL11RA-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410625.1	NM_001142784		16	29	0	0	0	0.000566183	0	16	29				
TRIM7	81786	broad.mit.edu	37	5	180622520	180622520	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:180622520C>T	ENST00000274773.7	-	7	1243	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S	CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000361809.3_Silent_p.S186S|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.5_ENST00000514487.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000393319.3_Silent_p.S212S|CTC-338M12.5_ENST00000508877.1_RNA|TRIM7_ENST00000393315.1_Silent_p.S186S|TRIM7_ENST00000422067.2_Silent_p.S186S	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	394	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		GATGCCGGCCCGAGGAGAAGC	0.706																																					Esophageal Squamous(128;2258 2308 35507 48647)	ENST00000393315.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(556-558)tcG>tcA		tripartite motif containing 7							23.0	26.0	25.0					5																	180622520		2181	4262	6443	SO:0001819	synonymous_variant	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180622520C>T	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1182G>A	5.37:g.180622520C>T						TRIM7_ENST00000393319.3_Silent_p.S212S|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000274773.7_Silent_p.S394S|TRIM7_ENST00000422067.2_Silent_p.S186S|TRIM7_ENST00000361809.3_Silent_p.S186S|TRIM7_ENST00000504241.1_5'UTR	p.S186S	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	7	1255	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	394					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Silent	SNP	ENST00000274773.7	37	c.558G>A	CCDS4462.1																																																																																				0.706	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296		8	58	0	0	0	0.000157383	0	8	58				
KRT5	3852	broad.mit.edu	37	12	52913586	52913586	+	Silent	SNP	C	C	T	rs267607456		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr12:52913586C>T	ENST00000252242.4	-	1	885	c.495G>A	c.(493-495)agG>agA	p.R165R		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	165	Head.		R -> S (in DM-EBS). {ECO:0000269|PubMed:21623745}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522																																						ENST00000252242.4																			0				endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35						c.(493-495)agG>agA		keratin 5							179.0	171.0	174.0					12																	52913586		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913586C>T		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.495G>A	12.37:g.52913586C>T							p.R165R	NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	885	-			165			Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.495G>A	CCDS8830.1																																																																																				0.522	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			7	148	0	0	0	0.000274275	0	7	148				
ZIC1	7545	broad.mit.edu	37	3	147128058	147128058	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr3:147128058G>A	ENST00000282928.4	+	1	888	c.159G>A	c.(157-159)tcG>tcA	p.S53S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	53					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACCCCAGTTCGCACGAGCTGG	0.721																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(157-159)tcG>tcA		Zic family member 1							28.0	31.0	30.0					3																	147128058		2198	4293	6491	SO:0001819	synonymous_variant	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128058G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.159G>A	3.37:g.147128058G>A							p.S53S	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	888	+			53					Q2M3N1	Silent	SNP	ENST00000282928.4	37	c.159G>A	CCDS3136.1																																																																																				0.721	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		22	33	0	0	0	0.00188189	0	22	33				
HELZ2	85441	broad.mit.edu	37	20	62198473	62198473	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr20:62198473C>T	ENST00000467148.1	-	6	2307	c.2238G>A	c.(2236-2238)acG>acA	p.T746T	HELZ2_ENST00000427522.2_Silent_p.T177T	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	746	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CAATGGCGTCCGTGCAGCGGT	0.662																																						ENST00000467148.1																			0											c.(2236-2238)acG>acA		helicase with zinc finger 2, transcriptional coactivator							63.0	61.0	62.0					20																	62198473		2202	4299	6501	SO:0001819	synonymous_variant	85441							g.chr20:62198473C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2238G>A	20.37:g.62198473C>T						HELZ2_ENST00000427522.2_Silent_p.T177T	p.T746T	NM_001037335.2	NP_001032412.2					6	2307	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.2238G>A	CCDS33508.1																																																																																				0.662	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		39	72	0	0	0	0.00195071	0	39	72				
PLCL1	5334	broad.mit.edu	37	2	198949565	198949565	+	Missense_Mutation	SNP	G	G	A	rs201197388		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr2:198949565G>A	ENST00000428675.1	+	2	1722	c.1324G>A	c.(1324-1326)Gtt>Att	p.V442I	PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	442	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTGTCGAAGCGTTGAACTCGA	0.408																																						ENST00000428675.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1324-1326)Gtt>Att		phospholipase C-like 1	Quinacrine(DB01103)	G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	62.0	59.0	60.0		1324	1.0	1.0	2		60	0,8600		0,0,4300	no	missense	PLCL1	NM_006226.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	442/1096	198949565	1,13005	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949565G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1324G>A	2.37:g.198949565G>A	ENSP00000402861:p.Val442Ile					PLCL1_ENST00000437704.2_Missense_Mutation_p.V344I	p.V442I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN			2	1722	+			442			PI-PLC X-box.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.1324G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	g	2.384	-0.341507	0.05243	2.27E-4	0.0	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.55413	0.52;0.52	5.94	1.05	0.20165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.279290	0.31031	N	0.008399	T	0.30696	0.0773	N	0.13235	0.315	0.22940	N	0.998531	B;B	0.21147	0.052;0.021	B;B	0.24006	0.05;0.05	T	0.18871	-1.0323	9	.	.	.	.	9.6222	0.39727	0.7455:0.0:0.2545:0.0	.	442;368	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	442;344	ENSP00000402861:V442I;ENSP00000414138:V344I	.	V	+	1	0	PLCL1	198657810	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	2.516000	0.45520	0.161000	0.19458	-0.405000	0.06341	GTT		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		38	30	0	0	0	0.000692331	0	38	30				
LRTM2	654429	broad.mit.edu	37	12	1943779	1943779	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr12:1943779C>T	ENST00000543818.1	+	5	1847	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	LRTM2_ENST00000535041.1_Silent_p.Y335Y|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Silent_p.Y335Y|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	335						integral component of membrane (GO:0016021)		p.Y335Y(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GCTGCATCTACGCCTCCCTCA	0.637																																						ENST00000543818.1																			2	Substitution - coding silent(2)	p.Y335Y(2)	ovary(1)|lung(1)	NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(1003-1005)taC>taT		leucine-rich repeats and transmembrane domains 2							44.0	40.0	42.0					12																	1943779		2200	4284	6484	SO:0001819	synonymous_variant	0					integral to membrane		g.chr12:1943779C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.1005C>T	12.37:g.1943779C>T						LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000535041.1_Silent_p.Y335Y|LRTM2_ENST00000299194.1_Silent_p.Y335Y|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron	p.Y335Y	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1847	+	Ovarian(42;0.107)		335					A7E2U6	Silent	SNP	ENST00000543818.1	37	c.1005C>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	C	4.723	0.134459	0.09032	.	.	ENSG00000166159	ENST00000424079	.	.	.	5.3	-5.34	0.02705	.	.	.	.	.	T	0.70430	0.3223	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76233	-0.3034	5	0.87932	D	0	.	15.8497	0.78921	0.0:0.2259:0.0:0.7741	.	.	.	.	C	92	.	ENSP00000394967:R92C	R	+	1	0	LRTM2	1814040	0.021000	0.18746	0.908000	0.35775	0.520000	0.34377	-0.805000	0.04530	-1.063000	0.03177	-1.036000	0.02392	CGC		0.637	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			40	40	0	0	0	0.00111076	0	40	40				
STAB2	55576	broad.mit.edu	37	12	104100607	104100607	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr12:104100607G>T	ENST00000388887.2	+	38	4238	c.4034G>T	c.(4033-4035)tGc>tTc	p.C1345F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCCCCCAATGCCAGCCCTGC	0.547																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4033-4035)tGc>tTc		stabilin 2							123.0	117.0	119.0					12																	104100607		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104100607G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4034G>T	12.37:g.104100607G>T	ENSP00000373539:p.Cys1345Phe						p.C1345F	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			38	4238	+			1345			Laminin EGF-like 1.			Missense_Mutation	SNP	ENST00000388887.2	37	c.4034G>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174352	0.57692	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.85258	-1.96	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95162	0.8432	H	0.95294	3.65	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96017	0.9006	10	0.87932	D	0	.	19.8101	0.96543	0.0:0.0:1.0:0.0	.	1345	Q8WWQ8	STAB2_HUMAN	F	1345;32	ENSP00000373539:C1345F	ENSP00000258495:C32F	C	+	2	0	STAB2	102624737	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	9.151000	0.94674	2.696000	0.92011	0.655000	0.94253	TGC		0.547	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			21	45	1	0	5.26018e-13	0.00188189	7.51896e-12	21	45				
TEK	7010	broad.mit.edu	37	9	27157925	27157925	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr9:27157925G>A	ENST00000380036.4	+	2	591	c.149G>A	c.(148-150)cGc>cAc	p.R50H	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	50	Ig-like C2-type 1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R50H(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	TCTGGGTGGCGCCCCCATGAG	0.502																																						ENST00000380036.4																			1	Substitution - Missense(1)	p.R50H(1)	large_intestine(1)	breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(148-150)cGc>cAc		TEK tyrosine kinase, endothelial							145.0	129.0	134.0					9																	27157925		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27157925G>A	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.149G>A	9.37:g.27157925G>A	ENSP00000369375:p.Arg50His					TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.R50H	p.R50H	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	2	591	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	50			Ig-like C2-type 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.149G>A	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	8.919	0.960706	0.18583	.	.	ENSG00000120156	ENST00000380036;ENST00000346448;ENST00000406359	T;T	0.73789	-0.75;-0.78	5.93	-2.2	0.06994	Tyrosine-protein kinase, receptor Tie-2, Ig-like domain 1, N-terminal (1);Immunoglobulin-like fold (1);	0.582526	0.15628	N	0.252547	T	0.50752	0.1634	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.31223	-0.9951	10	0.32370	T	0.25	.	12.5809	0.56390	0.5636:0.0:0.4364:0.0	.	83;50;50;50	Q59HG2;B5A953;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	H	50	ENSP00000369375:R50H;ENSP00000383977:R50H	ENSP00000343716:R50H	R	+	2	0	TEK	27147925	0.079000	0.21365	0.119000	0.21687	0.912000	0.54170	0.280000	0.18790	-0.463000	0.06973	-0.940000	0.02684	CGC		0.502	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			50	81	0	0	0	0.000781405	0	50	81				
HTR3C	170572	broad.mit.edu	37	3	183777419	183777419	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr3:183777419C>T	ENST00000318351.1	+	7	950	c.916C>T	c.(916-918)Ccc>Tcc	p.P306S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	306					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGTGGCACCCCCCTCATCAG	0.582																																						ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(916-918)Ccc>Tcc		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							135.0	123.0	127.0					3																	183777419		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183777419C>T	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.916C>T	3.37:g.183777419C>T	ENSP00000322617:p.Pro306Ser						p.P306S	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	950	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		306					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.916C>T	CCDS3250.1	.	.	.	.	.	.	.	.	.	.	.	16.16	3.045665	0.55110	.	.	ENSG00000178084	ENST00000318351	D	0.91124	-2.79	3.87	3.87	0.44632	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.131112	0.52532	N	0.000077	D	0.92031	0.7475	M	0.67625	2.065	0.44816	D	0.997822	P	0.45011	0.848	P	0.51297	0.665	D	0.92835	0.6283	10	0.66056	D	0.02	.	13.3708	0.60711	0.0:1.0:0.0:0.0	.	306	Q8WXA8	5HT3C_HUMAN	S	306	ENSP00000322617:P306S	ENSP00000322617:P306S	P	+	1	0	HTR3C	185260113	1.000000	0.71417	0.981000	0.43875	0.219000	0.24729	7.346000	0.79347	2.009000	0.58944	0.655000	0.94253	CCC		0.582	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		10	133	0	0	0	0.00136819	0	10	133				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	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		23	34	0	0	0	0.00188189	0	23	34				
DNM1P46	196968	broad.mit.edu	37	15	100339997	100339997	+	RNA	SNP	G	G	C	rs201407168		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr15:100339997G>C	ENST00000341853.1	-	0	929					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GTGTCTTCTCGTTCCCACGCG	0.612																																						ENST00000341853.1																			0																				35.0	30.0	32.0					15																	100339997		874	1991	2865			0							g.chr15:100339997G>C	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339997G>C								NR_003260.1						0	929	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.612	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		3	33	0	0	0	6.4e-05	0	3	33				
SHROOM1	134549	broad.mit.edu	37	5	132158517	132158517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:132158517G>A	ENST00000378679.3	-	10	3334	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.Q839*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.Q775*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	844					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGGGCGGCTGAACTGGAGGA	0.622																																						ENST00000378679.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17						c.(2530-2532)Cag>Tag		shroom family member 1							28.0	31.0	30.0					5																	132158517		2199	4299	6498	SO:0001587	stop_gained	134549				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	g.chr5:132158517G>A	AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.2530C>T	5.37:g.132158517G>A	ENSP00000367950:p.Gln844*					SHROOM1_ENST00000319854.3_Nonsense_Mutation_p.Q839*|SHROOM1_ENST00000378676.1_Nonsense_Mutation_p.Q775*	p.Q844*	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		10	3334	-			844					B7WP40|B7ZL01|Q8TDP0|Q8TF41	Nonsense_Mutation	SNP	ENST00000378679.3	37	c.2530C>T	CCDS54902.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574161	0.86542	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676	.	.	.	4.03	-2.63	0.06133	.	1.556200	0.03641	N	0.239593	.	.	.	.	.	.	0.26134	N	0.980374	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	1.3457	4.6822	0.12741	0.0:0.2992:0.3504:0.3504	.	.	.	.	X	844;839;775	.	ENSP00000324245:Q839X	Q	-	1	0	SHROOM1	132186416	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-0.105000	0.10907	-0.478000	0.06823	-1.193000	0.01689	CAG		0.622	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133033.1	NM_133456		15	17	0	0	0	0.000422831	0	15	17				
KBTBD8	84541	broad.mit.edu	37	3	67058637	67058637	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr3:67058637T>C	ENST00000417314.2	+	4	1683	c.1634T>C	c.(1633-1635)gTt>gCt	p.V545A	KBTBD8_ENST00000295568.4_Missense_Mutation_p.V519A|KBTBD8_ENST00000460576.1_Missense_Mutation_p.V103A			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	545						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CAAGTGACTGTTGAAGAACAC	0.403																																						ENST00000295568.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1555-1557)gTt>gCt		kelch repeat and BTB (POZ) domain containing 8							112.0	109.0	110.0					3																	67058637		2203	4300	6503	SO:0001583	missense	84541							g.chr3:67058637T>C	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.1634T>C	3.37:g.67058637T>C	ENSP00000401878:p.Val545Ala					KBTBD8_ENST00000460576.1_Missense_Mutation_p.V103A|KBTBD8_ENST00000417314.2_Missense_Mutation_p.V545A	p.V519A	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	4	1687	+		Lung NSC(201;0.0765)	545					B4DTW6|Q96JI5	Missense_Mutation	SNP	ENST00000417314.2	37	c.1556T>C	CCDS2906.2	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861749	0.51482	.	.	ENSG00000163376	ENST00000295568;ENST00000460576;ENST00000417314	T;T;T	0.71934	-0.61;-0.48;-0.61	5.37	5.37	0.77165	Kelch-type beta propeller (1);	1.149780	0.06215	N	0.685764	T	0.66406	0.2786	N	0.24115	0.695	0.80722	D	1	P;P	0.49961	0.915;0.93	B;P	0.48627	0.441;0.584	T	0.54173	-0.8333	10	0.08599	T	0.76	.	15.3743	0.74593	0.0:0.0:0.0:1.0	.	103;545	B4DTW6;Q8NFY9	.;KBTB8_HUMAN	A	519;103;545	ENSP00000295568:V519A;ENSP00000419738:V103A;ENSP00000401878:V545A	ENSP00000295568:V519A	V	+	2	0	KBTBD8	67141327	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.008000	0.88588	2.041000	0.60428	0.528000	0.53228	GTT		0.403	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	NM_032505		9	79	0	0	0	0.000442599	0	9	79				
UMOD	7369	broad.mit.edu	37	16	20355366	20355366	+	Silent	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr16:20355366G>A	ENST00000570689.1	-	6	1457	c.1311C>T	c.(1309-1311)acC>acT	p.T437T	UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000396134.2_Silent_p.T470T|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T|UMOD_ENST00000396138.4_Silent_p.T486T			P07911	UROM_HUMAN	uromodulin	437	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCTGTAGGGCGGTCTTCAGGC	0.537																																						ENST00000396134.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(1408-1410)acC>acT		uromodulin							120.0	102.0	108.0					16																	20355366		2203	4300	6503	SO:0001819	synonymous_variant	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20355366G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1311C>T	16.37:g.20355366G>A						UMOD_ENST00000570689.1_Silent_p.T437T|UMOD_ENST00000396138.4_Silent_p.T486T|UMOD_ENST00000424589.1_Silent_p.T470T|UMOD_ENST00000302509.4_Silent_p.T437T|UMOD_ENST00000396142.2_Silent_p.T437T	p.T470T	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN			7	1533	-			437			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	37	c.1410C>T	CCDS10583.1																																																																																				0.537	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			22	43	0	0	0	0.00188189	0	22	43				
PCDHB8	56128	broad.mit.edu	37	5	140559327	140559327	+	Missense_Mutation	SNP	C	C	T	rs141057693		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:140559327C>T	ENST00000239444.2	+	1	1957	c.1712C>T	c.(1711-1713)gCg>gTg	p.A571V	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	571	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGGCTCCGCGCCCTGCACC	0.716													C|||	1	0.000199681	0.0	0.0	5008	,	,		18043	0.0		0.0	False		,,,				2504	0.001					ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1711-1713)gCg>gTg				C	VAL/ALA	0,4348		0,0,2174	12.0	21.0	18.0		1712	2.4	0.6	5	dbSNP_134	18	5,8507		0,5,4251	no	missense	PCDHB8	NM_019120.3	64	0,5,6425	TT,TC,CC		0.0587,0.0,0.0389	benign	571/802	140559327	5,12855	2174	4256	6430	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559327C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1712C>T	5.37:g.140559327C>T	ENSP00000239444:p.Ala571Val						p.A571V	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1957	+			571			Cadherin 6.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1712C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667065	0.29604	0.0	5.87E-4	ENSG00000120322	ENST00000239444	T	0.60299	0.2	4.22	2.41	0.29592	Cadherin-like (1);	.	.	.	.	T	0.56978	0.2022	M	0.78456	2.415	0.09310	N	1	B	0.19583	0.037	B	0.24269	0.052	T	0.54214	-0.8327	9	0.62326	D	0.03	.	7.3544	0.26711	0.0:0.6364:0.0:0.3636	.	571	Q9UN66	PCDB8_HUMAN	V	571	ENSP00000239444:A571V	ENSP00000239444:A571V	A	+	2	0	PCDHB8	140539511	0.000000	0.05858	0.597000	0.28824	0.610000	0.37248	0.303000	0.19210	0.260000	0.21731	0.298000	0.19748	GCG		0.716	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		45	184	0	0	0	0.000781405	0	45	184				
HLA-DRB6	3128	broad.mit.edu	37	6	32521691	32521691	+	RNA	SNP	A	A	G	rs113051760	byFrequency	TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr6:32521691A>G	ENST00000411500.1	-	0	792					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGCCCAGCACAAAGCCCCCGA	0.488													A|||	1839	0.367212	0.4818	0.3098	5008	,	,		11592	0.3433		0.332	False		,,,				2504	0.3139					ENST00000411500.1																			0																																																			0							g.chr6:32521691A>G	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521691A>G								NR_001298.1						0	792	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		5	19	0	0	0	0.000157383	0	5	19				
TTC37	9652	broad.mit.edu	37	5	94858951	94858951	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:94858951C>A	ENST00000358746.2	-	18	2010	c.1712G>T	c.(1711-1713)gGa>gTa	p.G571V	RNU6-308P_ENST00000390957.1_RNA	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	571						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATAGTATAGTCCTCGCCTAAG	0.393																																						ENST00000358746.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						c.(1711-1713)gGa>gTa		tetratricopeptide repeat domain 37							182.0	177.0	179.0					5																	94858951		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94858951C>A	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.1712G>T	5.37:g.94858951C>A	ENSP00000351596:p.Gly571Val						p.G571V	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN			18	2010	-			571					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.1712G>T	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639611	0.87760	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	T;T	0.80824	-1.42;-1.42	4.88	4.88	0.63580	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94098	0.8108	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96478	0.9354	10	0.72032	D	0.01	.	18.3902	0.90479	0.0:1.0:0.0:0.0	.	523;571	D6RCE2;Q6PGP7	.;TTC37_HUMAN	V	571;523	ENSP00000351596:G571V;ENSP00000423742:G523V	ENSP00000351596:G571V	G	-	2	0	TTC37	94884707	1.000000	0.71417	0.974000	0.42286	0.991000	0.79684	7.150000	0.77403	2.402000	0.81655	0.557000	0.71058	GGA		0.393	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		45	78	1	0	2.77807e-22	0.000680045	4.21919e-21	45	78				
STEAP2	261729	broad.mit.edu	37	7	89856412	89856412	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr7:89856412G>T	ENST00000287908.3	+	3	1013	c.620G>T	c.(619-621)cGa>cTa	p.R207L	STEAP2_ENST00000394626.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394621.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394629.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394622.2_Missense_Mutation_p.R207L|STEAP2_ENST00000402625.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394632.1_Missense_Mutation_p.R207L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	207					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTACCCCTACGACTCTTTACT	0.438																																						ENST00000287908.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						c.(619-621)cGa>cTa		STEAP family member 2, metalloreductase							103.0	99.0	100.0					7																	89856412		2203	4300	6503	SO:0001583	missense	261729				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity	g.chr7:89856412G>T	AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"""prostate cancer associated protein 1"", ""six transmembrane epithelial antigen of the prostate 2"""	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.620G>T	7.37:g.89856412G>T	ENSP00000287908:p.Arg207Leu					STEAP2_ENST00000402625.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394626.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394632.1_Missense_Mutation_p.R207L|STEAP2_ENST00000394629.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394621.2_Missense_Mutation_p.R207L|STEAP2_ENST00000394622.2_Missense_Mutation_p.R207L	p.R207L	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN			3	1013	+	all_hematologic(106;0.112)		207					A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Missense_Mutation	SNP	ENST00000287908.3	37	c.620G>T	CCDS5615.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.722966	0.48728	.	.	ENSG00000157214	ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45	6.08	4.3	0.51218	.	0.219115	0.42294	D	0.000737	T	0.12178	0.0296	L	0.33485	1.01	0.38776	D	0.954655	P;B;P;P	0.36733	0.567;0.431;0.552;0.552	B;B;B;B	0.31191	0.061;0.03;0.125;0.086	T	0.12319	-1.0552	9	.	.	.	-4.163	13.1287	0.59369	0.1293:0.0:0.8707:0.0	.	207;207;207;207	G5E9C6;Q6YPB2;Q8NFT2;B5MC02	.;.;STEA2_HUMAN;.	L	207	ENSP00000287908:R207L;ENSP00000378123:R207L;ENSP00000378120:R207L;ENSP00000378128:R207L;ENSP00000378119:R207L;ENSP00000384191:R207L;ENSP00000378125:R207L	.	R	+	2	0	STEAP2	89694348	1.000000	0.71417	0.996000	0.52242	0.895000	0.52256	2.680000	0.46918	0.915000	0.36847	-0.137000	0.14449	CGA		0.438	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059662.4	NM_152999		24	37	1	0	4.4004e-07	0.00047179	6.16903e-06	24	37				
JARID2	3720	broad.mit.edu	37	6	15513524	15513524	+	Silent	SNP	C	C	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr6:15513524C>T	ENST00000341776.2	+	16	3565	c.3321C>T	c.(3319-3321)tcC>tcT	p.S1107S	JARID2_ENST00000397311.3_Silent_p.S935S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1107					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCCACTCCTCCGCACGCTATG	0.637																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(3319-3321)tcC>tcT		jumonji, AT rich interactive domain 2							26.0	23.0	24.0					6																	15513524		2177	4232	6409	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15513524C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3321C>T	6.37:g.15513524C>T						JARID2_ENST00000397311.3_Silent_p.S935S	p.S1107S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			16	3565	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1107					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.3321C>T	CCDS4533.1																																																																																				0.637	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		15	14	0	0	0	0.000308642	0	15	14				
SDF4	51150	broad.mit.edu	37	1	1152973	1152973	+	Silent	SNP	G	G	T			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr1:1152973G>T	ENST00000360001.6	-	7	1270	c.1008C>A	c.(1006-1008)ccC>ccA	p.P336P	SDF4_ENST00000263741.7_3'UTR			Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	336	EF-hand 6. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Necessary for intracellular retention in Golgi apparatus lumen. {ECO:0000250}.				calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCACCTCCTCGGGCTCCAGGT	0.642																																						ENST00000360001.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1006-1008)ccC>ccA		stromal cell derived factor 4							95.0	100.0	98.0					1																	1152973		2203	4299	6502	SO:0001819	synonymous_variant	51150				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding	g.chr1:1152973G>T		CCDS12.1, CCDS30553.1	1p36.33	2013-01-10			ENSG00000078808	ENSG00000078808		"""EF-hand domain containing"""	24188	protein-coding gene	gene with protein product	"""calcium binding protein"""	614282				9254016, 8609160	Standard	NM_016176		Approved	Cab45	uc001adh.4	Q9BRK5	OTTHUMG00000001812	ENST00000360001.6:c.1008C>A	1.37:g.1152973G>T						SDF4_ENST00000263741.7_3'UTR	p.P336P			Q9BRK5	CAB45_HUMAN		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)	7	1270	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	336			EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).		B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53	Silent	SNP	ENST00000360001.6	37	c.1008C>A	CCDS30553.1																																																																																				0.642	SDF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005064.1	NM_016176		4	77	1	0	0.000602214	0.000602214	0.00828329	4	77				
COL6A2	1292	broad.mit.edu	37	21	47552224	47552224	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr21:47552224G>A	ENST00000300527.4	+	28	2922	c.2818G>A	c.(2818-2820)Gca>Aca	p.A940T		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	940	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGGAGGCACGCAGAGCTGTC	0.657																																						ENST00000300527.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2818-2820)Gca>Aca		collagen, type VI, alpha 2							34.0	36.0	35.0					21																	47552224		2201	4299	6500	SO:0001583	missense	0				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47552224G>A	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2818G>A	21.37:g.47552224G>A	ENSP00000300527:p.Ala940Thr						p.A940T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	28	2922	+	Breast(49;0.245)		940			Nonhelical region.|VWFA 3.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2818G>A	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.760209	0.49468	.	.	ENSG00000142173	ENST00000300527	T	0.79454	-1.27	4.16	4.16	0.48862	von Willebrand factor, type A (3);	0.000000	0.85682	U	0.000000	D	0.86719	0.6000	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.85291	0.1067	10	0.22706	T	0.39	-21.4829	16.468	0.84090	0.0:0.0:1.0:0.0	.	940	P12110	CO6A2_HUMAN	T	940	ENSP00000300527:A940T	ENSP00000300527:A940T	A	+	1	0	COL6A2	46376652	1.000000	0.71417	0.935000	0.37517	0.035000	0.12851	9.525000	0.98039	1.881000	0.54492	0.297000	0.19635	GCA		0.657	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			9	19	0	0	0	0.00136819	0	9	19				
KRTAP5-11	440051	broad.mit.edu	37	11	71293827	71293827	+	Silent	SNP	G	G	A	rs373629079		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr11:71293827G>A	ENST00000398530.1	-	1	94	c.57C>T	c.(55-57)tcC>tcT	p.S19S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	19						keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACTGCCGGAGCCACAGC	0.632																																						ENST00000398530.1																			0				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(55-57)tcC>tcT		keratin associated protein 5-11		G		1,4377		0,1,2188	32.0	45.0	41.0		57	-0.1	0.9	11		41	1,8579		0,1,4289	no	coding-synonymous	KRTAP5-11	NM_001005405.2		0,2,6477	AA,AG,GG		0.0117,0.0228,0.0154		19/157	71293827	2,12956	2189	4290	6479	SO:0001819	synonymous_variant	440051					keratin filament		g.chr11:71293827G>A	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.57C>T	11.37:g.71293827G>A						AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	p.S19S	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN			1	94	-			19						Silent	SNP	ENST00000398530.1	37	c.57C>T	CCDS41685.1																																																																																				0.632	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		18	68	0	0	0	0.00121646	0	18	68				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		4	187	0	0	0	0.00024832	0	4	187				
OR2G3	81469	broad.mit.edu	37	1	247769085	247769085	+	Silent	SNP	C	C	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr1:247769085C>G	ENST00000320002.2	+	1	230	c.198C>G	c.(196-198)ctC>ctG	p.L66L	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCAGCAACCTCTCTTTACTGG	0.458																																						ENST00000320002.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50						c.(196-198)ctC>ctG		olfactory receptor, family 2, subfamily G, member 3							276.0	262.0	267.0					1																	247769085		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769085C>G	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.198C>G	1.37:g.247769085C>G						RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.L66L	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	230	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		66					B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.198C>G	CCDS31093.1																																																																																				0.458	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			4	324	0	0	0	0.00024832	0	4	324				
GLUD1P2	100381203	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G	rs201727873		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr10:48968566A>G	ENST00000594520.1	+	0	723									glutamate dehydrogenase 1 pseudogene 2																		ACAGGATAACAAACTGGAAAA	0.318																																						ENST00000594520.1																			0																																																			0							g.chr10:48968566A>G	X66313, X66315, X66319		10q11.22	2013-02-15	2010-01-18	2010-01-18	ENSG00000227781				4337	pseudogene	pseudogene			"""glutamate dehydrogenase pseudogene 2"""	GLUDP2		8486350	Standard			Approved				OTTHUMG00000018156		10.37:g.48968566A>G														0	723	+									RNA	SNP	ENST00000594520.1	37																																																																																						0.318	GLUD1P2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000461126.1	NG_016765		3	24	0	0	0	6.4e-05	0	3	24				
GRIN2D	2906	broad.mit.edu	37	19	48908178	48908178	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr19:48908178G>A	ENST00000263269.3	+	3	741	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	218					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGGAGCACCGCGGAGCGCTG	0.682																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(652-654)cGc>cAc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						79.0	78.0	79.0					19																	48908178		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48908178G>A	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.653G>A	19.37:g.48908178G>A	ENSP00000263269:p.Arg218His						p.R218H	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	3	741	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	218						Missense_Mutation	SNP	ENST00000263269.3	37	c.653G>A	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113261	0.77210	.	.	ENSG00000105464	ENST00000263269	D	0.93859	-3.3	4.94	4.94	0.65067	Extracellular ligand-binding receptor (1);	0.141001	0.45606	D	0.000348	D	0.93897	0.8047	L	0.29908	0.895	0.40641	D	0.981945	D	0.76494	0.999	D	0.66602	0.945	D	0.94139	0.7395	10	0.44086	T	0.13	.	17.3107	0.87208	0.0:0.0:1.0:0.0	.	218	O15399	NMDE4_HUMAN	H	218	ENSP00000263269:R218H	ENSP00000263269:R218H	R	+	2	0	GRIN2D	53599990	0.996000	0.38824	0.999000	0.59377	0.867000	0.49689	3.348000	0.52209	2.457000	0.83068	0.561000	0.74099	CGC		0.682	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			10	131	0	0	0	0.000673444	0	10	131				
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721								Other BER factors																														ENST00000322344.3																			8	Substitution - coding silent(8)	p.P16P(8)	lung(6)|urinary_tract(2)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(46-48)ccT>ccC	Other BER factors	polynucleotide kinase 3'-phosphatase							10.0	13.0	12.0					19																	50370414		2073	4105	6178	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370414A>G	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.48T>C	19.37:g.50370414A>G						PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P	p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	2	157	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	16					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.48T>C	CCDS12783.1																																																																																				0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		6	24	0	0	0	0.00136819	0	6	24				
IL7R	3575	broad.mit.edu	37	5	35875685	35875685	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr5:35875685G>C	ENST00000303115.3	+	7	1001	c.872G>C	c.(871-873)aGa>aCa	p.R291T	IL7R_ENST00000506850.1_Missense_Mutation_p.E260Q|IL7R_ENST00000343305.4_Missense_Mutation_p.E260Q	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	291					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAAACCAAGAAAAGTGAGT	0.413			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															ENST00000303115.3				Dom	yes		5	5p13	146661	"""Mis, O"""	interleukin 7 receptor	yes	Severe combined immune deficiency	L			"""ALL, ETP ALL"""		0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126						c.(871-873)aGa>aCa		interleukin 7 receptor							85.0	83.0	84.0					5																	35875685		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35875685G>C	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.872G>C	5.37:g.35875685G>C	ENSP00000306157:p.Arg291Thr					IL7R_ENST00000506850.1_Missense_Mutation_p.E260Q|IL7R_ENST00000343305.4_Missense_Mutation_p.E260Q	p.R291T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		7	1001	+	all_lung(31;0.00015)		291					B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.872G>C	CCDS3911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.23|13.23	2.174595|2.174595	0.38413|0.38413	.|.	.|.	ENSG00000168685|ENSG00000168685	ENST00000343305;ENST00000506850;ENST00000505093|ENST00000303115;ENST00000505875	T;T|T;T	0.49139|0.32023	0.79;0.8|1.96;1.47	5.77|5.77	3.34|3.34	0.38264|0.38264	.|.	.|0.320874	.|0.33217	.|N	.|0.005160	T|T	0.15565|0.15565	0.0375|0.0375	N|N	0.14661|0.14661	0.345|0.345	0.21290|0.21290	N|N	0.999731|0.999731	B|B	0.19583|0.02656	0.037|0.0	B|B	0.14578|0.01281	0.011|0.0	T|T	0.18618|0.18618	-1.0331|-1.0331	9|10	0.34782|0.72032	T|D	0.22|0.01	-13.2858|-13.2858	3.8533|3.8533	0.08965|0.08965	0.7088:0.0:0.1059:0.1852|0.7088:0.0:0.1059:0.1852	.|.	260|291	D6RGV2|P16871	.|IL7RA_HUMAN	Q|T	260;260;63|291;57	ENSP00000345819:E260Q;ENSP00000421207:E260Q|ENSP00000306157:R291T;ENSP00000420923:R57T	ENSP00000345819:E260Q|ENSP00000306157:R291T	E|R	+|+	1|2	0|0	IL7R|IL7R	35911442|35911442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	1.534000|1.534000	0.36051|0.36051	0.419000|0.419000	0.25927|0.25927	0.563000|0.563000	0.77884|0.77884	GAA|AGA		0.413	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			11	20	0	0	0	0.00185496	0	11	20				
AGBL1	123624	broad.mit.edu	37	15	86838596	86838596	+	Silent	SNP	G	G	C			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr15:86838596G>C	ENST00000441037.2	+	16	2288	c.2193G>C	c.(2191-2193)acG>acC	p.T731T	AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000421325.2_Silent_p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.T731T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498																																						ENST00000441037.2																			1	Substitution - coding silent(1)	p.T731T(1)	prostate(1)	NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2191-2193)acG>acC		ATP/GTP binding protein-like 1							110.0	110.0	110.0					15																	86838596		1998	4176	6174	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838596G>C	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2193G>C	15.37:g.86838596G>C						AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1_ENST00000421325.2_Silent_p.T731T	p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2288	+			731					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2193G>C	CCDS58398.1																																																																																				0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		3	69	0	0	0	6.4e-05	0	3	69				
RPTN	126638	broad.mit.edu	37	1	152128205	152128208	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr1:152128205_152128208delTGTC	ENST00000316073.3	-	3	1431_1434	c.1367_1370delGACA	c.(1366-1371)agacaafs	p.RQ456fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	456	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.52																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1366-1371)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128205_152128208delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1367_1370delGACA	1.37:g.152128213_152128216delTGTC	ENSP00000317895:p.Arg456fs						p.RQ456fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1431_1434	-			456			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1367_1370delGACA	CCDS41397.1																																																																																				0.520	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		11	1497						11	1497	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	TT	rs55992531|rs397933710		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr3:195400918_195400919insTT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insTT	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.195400925_195400926dupTT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	7						4	7	---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-	rs567381624	byFrequency	TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		GCTTTTGGGGAAAAAAAAAAG	0.542																																						ENST00000480805.1																			0																																																			0							g.chr10:81680656delA	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680656delA								NR_002724.2						0	723	+									RNA	DEL	ENST00000480805.1	37																																																																																						0.542	MBL1P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000049017.1			5	9						5	9	---	---	---	---
NAALADL1	10004	broad.mit.edu	37	11	64825888	64825888	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:64825888delC	ENST00000358658.3	-	1	133	c.106delG	c.(106-108)gccfs	p.A36fs	NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000339885.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355369.2_Frame_Shift_Del_p.A36fs	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCTGGGGGGCCAGTGAGTTG	0.642																																						ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(106-108)ccfs		N-acetylated alpha-linked acidic dipeptidase-like 1							45.0	42.0	43.0					11																	64825888		2201	4297	6498	SO:0001589	frameshift_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825888delC	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.106delG	11.37:g.64825888delC	ENSP00000351484:p.Ala36fs					NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355369.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000339885.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.A36fs	p.A36fs	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN			1	133	-			36					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Frame_Shift_Del	DEL	ENST00000358658.3	37	c.106delG	CCDS31604.1																																																																																				0.642	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		14	47						14	47	---	---	---	---
RP11-360K13.1	0	broad.mit.edu	37	11	96514998	96514999	+	lincRNA	INS	-	-	A	rs67317023|rs149392521		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr11:96514998_96514999insA	ENST00000527528.1	+	0	158																											GCTTAGTTATTaaaaaaaaaaa	0.366																																						ENST00000527528.1																			0																																																			0							g.chr11:96514998_96514999insA																													11.37:g.96515009_96515009dupA														0	158	+									RNA	INS	ENST00000527528.1	37																																																																																						0.366	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000395474.1			4	7						4	7	---	---	---	---
RP11-160E2.17	0	broad.mit.edu	37	17	18988562	18988562	+	lincRNA	DEL	T	T	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr17:18988562delT	ENST00000442355.2	+	0	272																											CTGATGTGTGTTTTTTTTTTT	0.279																																						ENST00000442355.2																			0																																																			0							g.chr17:18988562delT																													17.37:g.18988562delT														0	272	+									RNA	DEL	ENST00000442355.2	37																																																																																						0.279	RP11-160E2.17-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441117.1			2	4						2	4	---	---	---	---
SIGLEC6	946	broad.mit.edu	37	19	52033047	52033049	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	5ed6f01d-f1a2-403a-88d9-afc258e621aa	g.chr19:52033047_52033049delCTT	ENST00000425629.3	-	5	1095_1097	c.941_943delAAG	c.(940-945)gaagga>gga	p.E314del	SIGLEC6_ENST00000359982.4_In_Frame_Del_p.E325del|SIGLEC6_ENST00000436458.1_In_Frame_Del_p.E262del|SIGLEC6_ENST00000343300.4_In_Frame_Del_p.E314del|SIGLEC6_ENST00000391797.3_In_Frame_Del_p.E303del|SIGLEC6_ENST00000346477.3_In_Frame_Del_p.E298del|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	314	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGAAATCTCCTTCTTCTGCAGA	0.601																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(892-897)gga>g		sialic acid binding Ig-like lectin 6																																				SO:0001651	inframe_deletion	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033047_52033049delCTT	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.941_943delAAG	19.37:g.52033050_52033052delCTT	ENSP00000401502:p.Glu314del					SIGLEC6_ENST00000425629.3_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000343300.4_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000359982.4_In_Frame_Del_p.EG325del|SIGLEC6_ENST00000391797.3_In_Frame_Del_p.EG303del|SIGLEC6_ENST00000436458.1_In_Frame_Del_p.EG262del	p.EG298del	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	961_963	-		all_neural(266;0.0199)	314			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	In_Frame_Del	DEL	ENST00000425629.3	37	c.893_895delAAG	CCDS12834.3																																																																																				0.601	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		32	56						32	56	---	---	---	---
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)del		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del					SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			4	5						4	5	---	---	---	---
NAALADL1	10004	broad.mit.edu	37	11	64825888	64825888	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr11:64825888delC	ENST00000358658.3	-	1	133	c.106delG	c.(106-108)gccfs	p.A36fs	NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000339885.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355369.2_Frame_Shift_Del_p.A36fs	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCTGGGGGGCCAGTGAGTTG	0.642																																						ENST00000358658.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(106-108)ccfs		N-acetylated alpha-linked acidic dipeptidase-like 1							45.0	42.0	43.0					11																	64825888		2201	4297	6498	SO:0001589	frameshift_variant	10004				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:64825888delC	AF010141	CCDS31604.1	11q12	2011-08-16			ENSG00000168060	ENSG00000168060			23536	protein-coding gene	gene with protein product	"""ileal peptidase I100"""	602640				10085079	Standard	NM_005468		Approved		uc001ocn.3	Q9UQQ1	OTTHUMG00000165595	ENST00000358658.3:c.106delG	11.37:g.64825888delC	ENSP00000351484:p.Ala36fs					NAALADL1_ENST00000356632.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000340252.4_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355369.2_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000355721.3_Frame_Shift_Del_p.A36fs|NAALADL1_ENST00000339885.2_Frame_Shift_Del_p.A36fs	p.A36fs	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN			1	133	-			36					C9J8A1|C9J964|C9JL35|C9JSN0|O43176	Frame_Shift_Del	DEL	ENST00000358658.3	37	c.106delG	CCDS31604.1																																																																																				0.642	NAALADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385162.1	NM_005468		14	47						14	47	---	---	---	---
RP11-360K13.1	0	broad.mit.edu	37	11	96514998	96514999	+	lincRNA	INS	-	-	A	rs67317023|rs149392521		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr11:96514998_96514999insA	ENST00000527528.1	+	0	158																											GCTTAGTTATTaaaaaaaaaaa	0.366																																						ENST00000527528.1																			0																																																			0							g.chr11:96514998_96514999insA																													11.37:g.96515009_96515009dupA														0	158	+									RNA	INS	ENST00000527528.1	37																																																																																						0.366	RP11-360K13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000395474.1			4	7						4	7	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13319694	13319696	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr19:13319694_13319696delTGG	ENST00000360228.5	-	46	6653_6655	c.6654_6656delCCA	c.(6652-6657)caccat>cat	p.2218_2219HH>H	CACNA1A_ENST00000573710.2_In_Frame_Del_p.2219_2220HH>H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2219	Poly-His.				adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GGGCGGGGGAtggtggtggtggt	0.734																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(6652-6657)cat>ca		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)		,,,,	168,2150		39,90,1030					,,,,		1.0			3	418,5138		67,284,2427	no	coding,coding,coding,coding,coding	CACNA1A	NM_023035.2,NM_001174080.1,NM_001127222.1,NM_001127221.1,NM_000068.3	,,,,	106,374,3457	A1A1,A1R,RR		7.5234,7.2476,7.4422	,,,,	,,,,		586,7288				SO:0001651	inframe_deletion	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13319694_13319696delTGG	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.6654_6656delCCA	19.37:g.13319703_13319705delTGG	ENSP00000353362:p.His2219del					CACNA1A_ENST00000573710.2_In_Frame_Del_p.HH2219del	p.HH2218del	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		46	6653_6655	-			2219			Poly-His.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	In_Frame_Del	DEL	ENST00000360228.5	37	c.6654_6656delCCA	CCDS45998.1																																																																																				0.734	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		2	4						2	4	---	---	---	---
SIGLEC6	946	broad.mit.edu	37	19	52033047	52033049	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr19:52033047_52033049delCTT	ENST00000425629.3	-	5	1095_1097	c.941_943delAAG	c.(940-945)gaagga>gga	p.E314del	SIGLEC6_ENST00000359982.4_In_Frame_Del_p.E325del|SIGLEC6_ENST00000436458.1_In_Frame_Del_p.E262del|SIGLEC6_ENST00000343300.4_In_Frame_Del_p.E314del|SIGLEC6_ENST00000391797.3_In_Frame_Del_p.E303del|SIGLEC6_ENST00000346477.3_In_Frame_Del_p.E298del|SIGLEC6_ENST00000474054.1_5'Flank	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	314	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTGAAATCTCCTTCTTCTGCAGA	0.601																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(892-897)gga>g		sialic acid binding Ig-like lectin 6																																				SO:0001651	inframe_deletion	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033047_52033049delCTT	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.941_943delAAG	19.37:g.52033050_52033052delCTT	ENSP00000401502:p.Glu314del					SIGLEC6_ENST00000359982.4_In_Frame_Del_p.EG325del|SIGLEC6_ENST00000391797.3_In_Frame_Del_p.EG303del|SIGLEC6_ENST00000425629.3_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000343300.4_In_Frame_Del_p.EG314del|SIGLEC6_ENST00000436458.1_In_Frame_Del_p.EG262del	p.EG298del	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	961_963	-		all_neural(266;0.0199)	314			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	In_Frame_Del	DEL	ENST00000425629.3	37	c.893_895delAAG	CCDS12834.3																																																																																				0.601	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		32	56						32	56	---	---	---	---
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs374776064|rs587611810|rs71199613	byFrequency	TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688														1042	0.208067	0.1188	0.2522	5008	,	,		15055	0.1379		0.3231	False		,,,				2504	0.2515					ENST00000400368.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(145-147)cgc>cCAGCTGCTGCGCCCCgc		keratin associated protein 10-6																																				SO:0001652	inframe_insertion	386674					keratin filament		g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.146_147insCAGCTGCTGCGCCCC	21.37:g.46012219_46012220insGGGGCGCAGCAGCTG	Exception_encountered					TSPEAR_ENST00000323084.4_Intron	p.48_49insPAAAP	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN			1	166_167	-			48			29 X 5 AA repeats of C-C-X(3).			In_Frame_Ins	INS	ENST00000400368.1	37	c.146_147insCAGCTGCTGCGCCCC	CCDS42959.1																																																																																				0.688	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688		9	50						9	50	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-BJ-A290-01A-11D-A17V-08	TCGA-BJ-A290-11A-11D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9f5e75c-a8b7-4747-912b-1c261d4e3ee0	d93fac63-9b6f-4c57-9bf1-278dad8324a2	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			4	4						4	4	---	---	---	---
