#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
ASPM	259266	broad.mit.edu	37	1	197061108	197061108	+	Nonsense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:197061108G>A	ENST00000367409.4	-	22	9629	c.9373C>T	c.(9373-9375)Caa>Taa	p.Q3125*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q1540*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.Q790*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3125					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAGGCTCTTTGAATTCTAACA	0.363																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9373-9375)Caa>Taa		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							94.0	97.0	96.0					1																	197061108		2203	4300	6503	SO:0001587	stop_gained	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197061108G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9373C>T	1.37:g.197061108G>A	ENSP00000356379:p.Gln3125*					ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q1540*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.Q790*	p.Q3125*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			22	9629	-			3125					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Nonsense_Mutation	SNP	ENST00000367409.4	37	c.9373C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	51	17.341612	0.99884	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	.	.	.	5.28	5.28	0.74379	.	0.068840	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4649	0.87629	0.0:0.0:1.0:0.0	.	.	.	.	X	3125;1540;790;1111	.	ENSP00000294732:Q1540X	Q	-	1	0	ASPM	195327731	1.000000	0.71417	0.991000	0.47740	0.393000	0.30537	7.307000	0.78920	2.641000	0.89580	0.650000	0.86243	CAA		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		20	51	0	0	0	1	0	20	51				
BAI3	577	broad.mit.edu	37	6	70034878	70034878	+	Missense_Mutation	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr6:70034878C>T	ENST00000370598.1	+	21	3750	c.2929C>T	c.(2929-2931)Cgg>Tgg	p.R977W	BAI3_ENST00000238918.8_Missense_Mutation_p.R183W	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	977					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATTAGGACACGGCTTATAAG	0.408																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2929-2931)Cgg>Tgg		brain-specific angiogenesis inhibitor 3							202.0	192.0	196.0					6																	70034878		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70034878C>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2929C>T	6.37:g.70034878C>T	ENSP00000359630:p.Arg977Trp					BAI3_ENST00000238918.8_Missense_Mutation_p.R183W	p.R977W	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			21	3750	+		all_lung(197;0.212)	977					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.2929C>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360001	0.82353	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.50813	0.73;0.73	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.69333	0.3099	M	0.88181	2.935	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.987;0.941;1.0	T	0.73672	-0.3909	10	0.66056	D	0.02	.	15.3849	0.74691	0.1393:0.8607:0.0:0.0	.	183;977;977	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	W	977;183	ENSP00000359630:R977W;ENSP00000238918:R183W	ENSP00000238918:R183W	R	+	1	2	BAI3	70091599	0.967000	0.33354	1.000000	0.80357	0.993000	0.82548	2.285000	0.43487	2.885000	0.99019	0.655000	0.94253	CGG		0.408	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			30	71	0	0	0	1	0	30	71				
IRX1	79192	broad.mit.edu	37	5	3599422	3599422	+	Silent	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr5:3599422C>T	ENST00000302006.3	+	2	412	c.360C>T	c.(358-360)taC>taT	p.Y120Y	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	120					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATTACCCCTACGGCCAGTTCC	0.657																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(358-360)taC>taT		iroquois homeobox 1							41.0	46.0	44.0					5																	3599422		2203	4299	6502	SO:0001819	synonymous_variant	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599422C>T	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.360C>T	5.37:g.3599422C>T						CTD-2012M11.3_ENST00000559410.1_RNA	p.Y120Y	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	412	+			120					Q7Z2F8|Q8N312	Silent	SNP	ENST00000302006.3	37	c.360C>T	CCDS34132.1																																																																																				0.657	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		4	37	0	0	0	1	0	4	37				
GALNT6	11226	broad.mit.edu	37	12	51754523	51754523	+	Silent	SNP	G	G	A	rs138065864		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:51754523G>A	ENST00000543196.2	-	6	1354	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	GALNT6_ENST00000356317.3_Silent_p.N383N			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	383	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N383N(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACATTTCCACGTTCTCCCCTC	0.542																																						ENST00000543196.2																			1	Substitution - coding silent(1)	p.N383N(1)	large_intestine(1)	endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1147-1149)aaC>aaT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)		G		1,4405	2.1+/-5.4	0,1,2202	133.0	115.0	121.0		1149	3.7	1.0	12	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous	GALNT6	NM_007210.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		383/623	51754523	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51754523G>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1149C>T	12.37:g.51754523G>A						GALNT6_ENST00000356317.3_Silent_p.N383N	p.N383N			Q8NCL4	GALT6_HUMAN			6	1354	-			383			Catalytic subdomain B.		Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	c.1149C>T	CCDS8813.1																																																																																				0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		19	37	0	0	0	1	0	19	37				
ITGA4	3676	broad.mit.edu	37	2	182395293	182395293	+	Missense_Mutation	SNP	T	T	C			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr2:182395293T>C	ENST00000397033.2	+	24	3011	c.2581T>C	c.(2581-2583)Tgt>Cgt	p.C861R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	861					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TCAAAGAGTGTGTGCATTAGA	0.383																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(2581-2583)Tgt>Cgt		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						145.0	128.0	134.0					2																	182395293		1874	4114	5988	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182395293T>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.2581T>C	2.37:g.182395293T>C	ENSP00000380227:p.Cys861Arg						p.C861R	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		24	3011	+			861					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.2581T>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	15.97	2.989901	0.54041	.	.	ENSG00000115232	ENST00000397033	T	0.44881	0.91	5.56	5.56	0.83823	Integrin alpha-2 (1);	0.146472	0.64402	D	0.000006	T	0.61060	0.2317	M	0.71036	2.16	0.49483	D	0.999791	D	0.76494	0.999	D	0.71184	0.972	T	0.61720	-0.7005	10	0.44086	T	0.13	.	12.3958	0.55384	0.0:0.0:0.0:1.0	.	861	P13612	ITA4_HUMAN	R	861	ENSP00000380227:C861R	ENSP00000380227:C861R	C	+	1	0	ITGA4	182103538	0.997000	0.39634	0.094000	0.20943	0.021000	0.10359	4.287000	0.59001	2.237000	0.73441	0.460000	0.39030	TGT		0.383	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			23	51	0	0	0	1	0	23	51				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		3	51	0	0	0	1	0	3	51				
MYO9B	4650	broad.mit.edu	37	19	17283599	17283599	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr19:17283599G>A	ENST00000594824.1	+	13	2114	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.R656Q|MYO9B_ENST00000595618.1_Missense_Mutation_p.R656Q			Q13459	MYO9B_HUMAN	myosin IXB	656	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GACTACATGCGGCCAGACATC	0.667																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(1966-1968)cGg>cAg		myosin IXB							68.0	77.0	74.0					19																	17283599		2114	4224	6338	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17283599G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1967G>A	19.37:g.17283599G>A	ENSP00000471367:p.Arg656Gln					MYO9B_ENST00000594824.1_Missense_Mutation_p.R656Q|MYO9B_ENST00000397274.2_Missense_Mutation_p.R656Q	p.R656Q	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			13	2119	+			656			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1967G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.422492	0.96111	.	.	ENSG00000099331	ENST00000397274	D	0.86956	-2.19	4.51	4.51	0.55191	Myosin head, motor domain (2);	0.000000	0.50627	D	0.000115	D	0.91317	0.7262	L	0.52364	1.645	0.46396	D	0.99902	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.92021	0.5626	10	0.59425	D	0.04	.	16.166	0.81757	0.0:0.0:1.0:0.0	.	656;656;662	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	656	ENSP00000380444:R656Q	ENSP00000380444:R656Q	R	+	2	0	MYO9B	17144599	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	9.700000	0.98707	2.218000	0.71995	0.655000	0.94253	CGG		0.667	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			18	37	0	0	0	1	0	18	37				
TRIM51	84767	broad.mit.edu	37	11	55653269	55653269	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr11:55653269G>A	ENST00000449290.2	+	2	457	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	122						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAGGAGCACCGGAATCACATA	0.483																																						ENST00000449290.2																			0											c.(364-366)cGg>cAg		tripartite motif-containing 51							18.0	17.0	17.0					11																	55653269		692	1591	2283	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653269G>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.365G>A	11.37:g.55653269G>A	ENSP00000395086:p.Arg122Gln						p.R122Q	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			2	457	+			122					A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.365G>A		.	.	.	.	.	.	.	.	.	.	.	7.175	0.588382	0.13812	.	.	ENSG00000124900	ENST00000449290	T	0.45668	0.89	0.803	0.803	0.18691	Zinc finger, B-box (3);	.	.	.	.	T	0.30947	0.0781	L	0.51422	1.61	0.09310	N	0.999999	B	0.31655	0.334	B	0.25291	0.059	T	0.14420	-1.0473	9	0.27785	T	0.31	.	7.5005	0.27516	1.0E-4:0.0:0.9999:0.0	.	122	Q9BSJ1	SPRY5_HUMAN	Q	122	ENSP00000395086:R122Q	ENSP00000395086:R122Q	R	+	2	0	SPRYD5	55409845	0.002000	0.14202	0.178000	0.23040	0.028000	0.11728	0.325000	0.19628	0.752000	0.32923	0.152000	0.16155	CGG		0.483	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		15	41	0	0	0	1	0	15	41				
PTPN23	25930	broad.mit.edu	37	3	47450483	47450483	+	Silent	SNP	C	C	T	rs151244361		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr3:47450483C>T	ENST00000265562.4	+	16	1625	c.1548C>T	c.(1546-1548)caC>caT	p.H516H	PTPN23_ENST00000431726.1_Silent_p.H390H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	516					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGAGCTGCACCGTGCCATGA	0.642																																						ENST00000265562.4																			0				breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1546-1548)caC>caT		protein tyrosine phosphatase, non-receptor type 23		C		0,4406		0,0,2203	117.0	106.0	110.0		1548	1.4	1.0	3	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PTPN23	NM_015466.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		516/1637	47450483	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25930				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity	g.chr3:47450483C>T	AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1548C>T	3.37:g.47450483C>T						PTPN23_ENST00000431726.1_Silent_p.H390H	p.H516H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	16	1625	+			516					A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	ENST00000265562.4	37	c.1548C>T	CCDS2754.1																																																																																				0.642	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466		9	77	0	0	0	1	0	9	77				
ROBO4	54538	broad.mit.edu	37	11	124765421	124765421	+	Missense_Mutation	SNP	A	A	G			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr11:124765421A>G	ENST00000306534.3	-	6	1453	c.968T>C	c.(967-969)gTg>gCg	p.V323A	ROBO4_ENST00000533054.1_Missense_Mutation_p.V178A|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	323	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGATGGTCTCACTTTGAACTC	0.642																																						ENST00000306534.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76						c.(967-969)gTg>gCg		roundabout, axon guidance receptor, homolog 4 (Drosophila)							48.0	55.0	53.0					11																	124765421		2200	4298	6498	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765421A>G	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.968T>C	11.37:g.124765421A>G	ENSP00000304945:p.Val323Ala					ROBO4_ENST00000533054.1_Missense_Mutation_p.V178A	p.V323A	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	6	1453	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	323			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.968T>C	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438131	0.83885	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.68765	-0.35;-0.35	4.72	4.72	0.59763	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.35495	N	0.003176	T	0.79522	0.4460	M	0.71581	2.175	0.44104	D	0.996878	D;D	0.67145	0.996;0.969	D;D	0.76071	0.987;0.93	T	0.82012	-0.0668	10	0.87932	D	0	.	12.6117	0.56554	1.0:0.0:0.0:0.0	.	213;323	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	A	323;213;178	ENSP00000304945:V323A;ENSP00000437129:V178A	ENSP00000304945:V323A	V	-	2	0	ROBO4	124270631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.460000	0.73518	1.991000	0.58162	0.459000	0.35465	GTG		0.642	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		19	63	0	0	0	1	0	19	63				
ACTB	60	broad.mit.edu	37	7	5568185	5568185	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr7:5568185G>A	ENST00000331789.5	-	4	720	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	ACTB_ENST00000464611.1_5'Flank|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	177					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGGTCCAGACGCAGGATGGCA	0.647																																						ENST00000331789.5																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8						c.(529-531)Cgt>Tgt		actin, beta							56.0	57.0	57.0					7																	5568185		2203	4299	6502	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5568185G>A	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.529C>T	7.37:g.5568185G>A	ENSP00000349960:p.Arg177Cys						p.R177C	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	4	720	-		Ovarian(82;0.0606)	177					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.529C>T	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649803	0.67358	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95137	-3.62	5.37	5.37	0.77165	.	0.000000	0.64402	U	0.000018	D	0.98551	0.9516	H	0.99357	4.53	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	D	0.99694	1.1002	10	0.87932	D	0	.	16.6558	0.85228	0.0:0.0:1.0:0.0	.	177	P60709	ACTB_HUMAN	C	177;153;149;96	ENSP00000349960:R177C	ENSP00000440549:R96C	R	-	1	0	ACTB	5534711	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.548000	0.82154	2.514000	0.84764	0.650000	0.86243	CGT		0.647	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		5	54	0	0	0	1	0	5	54				
FASN	2194	broad.mit.edu	37	17	80041237	80041237	+	Silent	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr17:80041237C>T	ENST00000306749.2	-	32	5624	c.5406G>A	c.(5404-5406)gaG>gaA	p.E1802E	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1802	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CAGCACTGCTCTCGTTGAAGA	0.647																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(5404-5406)gaG>gaA		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)						72.0	71.0	71.0					17																	80041237		2202	4298	6500	SO:0001819	synonymous_variant	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80041237C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5406G>A	17.37:g.80041237C>T							p.E1802E	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		32	5624	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1802			Enoyl reductase (By similarity).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	c.5406G>A	CCDS11801.1																																																																																				0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		10	14	0	0	0	1	0	10	14				
DDX1	1653	broad.mit.edu	37	2	15770187	15770187	+	Missense_Mutation	SNP	A	A	G			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr2:15770187A>G	ENST00000381341.2	+	26	2434	c.2045A>G	c.(2044-2046)gAt>gGt	p.D682G	DDX1_ENST00000233084.3_Missense_Mutation_p.D682G			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	682	Necessary for interaction with HNRNPK.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GTACCAGTGGATGAATTTGAT	0.353																																						ENST00000381341.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(2044-2046)gAt>gGt		DEAD (Asp-Glu-Ala-Asp) box helicase 1							99.0	106.0	104.0					2																	15770187		2203	4300	6503	SO:0001583	missense	1653				DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr2:15770187A>G	X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.2045A>G	2.37:g.15770187A>G	ENSP00000370745:p.Asp682Gly					DDX1_ENST00000233084.3_Missense_Mutation_p.D682G	p.D682G			Q92499	DDX1_HUMAN	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)	26	2434	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	682			Necessary for interaction with HNRNPK.		B4DME8|B4DPN6	Missense_Mutation	SNP	ENST00000381341.2	37	c.2045A>G	CCDS1686.1	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912198	0.72983	.	.	ENSG00000079785	ENST00000381341;ENST00000233084	T;T	0.42513	0.97;0.97	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.48223	0.1488	M	0.77103	2.36	0.80722	D	1	B	0.33777	0.425	B	0.32465	0.146	T	0.48625	-0.9019	10	0.45353	T	0.12	-28.5815	16.8222	0.85835	1.0:0.0:0.0:0.0	.	682	Q92499	DDX1_HUMAN	G	682	ENSP00000370745:D682G;ENSP00000233084:D682G	ENSP00000233084:D682G	D	+	2	0	DDX1	15687638	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.283000	0.95860	2.371000	0.80710	0.533000	0.62120	GAT		0.353	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207141.2	NM_004939		30	103	0	0	0	1	0	30	103				
DBH	1621	broad.mit.edu	37	9	136507474	136507474	+	Missense_Mutation	SNP	C	C	T	rs143535251	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr9:136507474C>T	ENST00000393056.2	+	3	644	c.632C>T	c.(631-633)gCg>gTg	p.A211V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	211			A -> T (in dbSNP:rs5320). {ECO:0000269|PubMed:10391210, ECO:0000269|PubMed:3443096}.		behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CCCTCAGACGCGTGCACCATG	0.607																																						ENST00000393056.2																			0				central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(631-633)gCg>gTg		dopamine beta-hydroxylase (dopamine beta-monooxygenase)	Dopamine(DB00988)|Vitamin C(DB00126)	C	VAL/ALA	1,4405		0,1,2202	69.0	63.0	65.0		632	-7.7	0.0	9	dbSNP_134	65	8,8592	6.4+/-24.3	0,8,4292	yes	missense	DBH	NM_000787.3	64	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	benign	211/618	136507474	9,12997	2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136507474C>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.632C>T	9.37:g.136507474C>T	ENSP00000376776:p.Ala211Val						p.A211V	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	3	644	+			211		A -> T (in dbSNP:rs5320).			Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.632C>T	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.572667	0.00887	2.27E-4	9.3E-4	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.32272	1.46;1.46	4.67	-7.71	0.01254	Copper type II, ascorbate-dependent monooxygenase, N-terminal (1);PHM/PNGase F domain (1);	1.057760	0.07311	N	0.875897	T	0.08802	0.0218	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41052	-0.9530	10	0.02654	T	1	-12.7818	10.5118	0.44866	0.0:0.1012:0.0987:0.8001	.	211	P09172	DOPO_HUMAN	V	211;148;148	ENSP00000376776:A211V;ENSP00000263611:A148V	ENSP00000263611:A148V	A	+	2	0	DBH	135497295	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.561000	0.23515	-1.668000	0.01471	-0.339000	0.08088	GCG		0.607	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		8	28	0	0	0	1	0	8	28				
PENK	5179	broad.mit.edu	37	8	57354325	57354325	+	Missense_Mutation	SNP	T	T	C			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr8:57354325T>C	ENST00000314922.3	-	2	386	c.310A>G	c.(310-312)Atg>Gtg	p.M104V	PENK_ENST00000451791.2_Missense_Mutation_p.M104V|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	104					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TACCTTTTCATGAAGCCCCCA	0.493																																						ENST00000314922.3																			0				central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21						c.(310-312)Atg>Gtg		proenkephalin							111.0	104.0	106.0					8																	57354325		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354325T>C		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.310A>G	8.37:g.57354325T>C	ENSP00000324248:p.Met104Val					PENK_ENST00000451791.2_Missense_Mutation_p.M104V|PENK_ENST00000523274.1_5'UTR	p.M104V	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	386	-		all_lung(136;0.229)	104					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.310A>G	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.277877	0.59758	.	.	ENSG00000181195	ENST00000539312;ENST00000314922;ENST00000451791;ENST00000518974	T;T;T	0.53423	1.83;1.83;0.62	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.55593	0.1930	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.52480	-0.8570	10	0.30078	T	0.28	-27.8458	15.6434	0.77025	0.0:0.0:0.0:1.0	.	104	P01210	PENK_HUMAN	V	104	ENSP00000324248:M104V;ENSP00000400894:M104V;ENSP00000428012:M104V	ENSP00000324248:M104V	M	-	1	0	PENK	57516879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.166000	0.77553	2.289000	0.77006	0.533000	0.62120	ATG		0.493	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			4	121	0	0	0	1	0	4	121				
NANOG	79923	broad.mit.edu	37	12	7947285	7947285	+	Missense_Mutation	SNP	C	C	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:7947285C>A	ENST00000229307.4	+	4	731	c.512C>A	c.(511-513)gCa>gAa	p.A171E	NANOG_ENST00000526286.1_Intron	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	171					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGGCCTCAGCACCTACCTAC	0.507																																						ENST00000229307.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(511-513)gCa>gAa		Nanog homeobox							65.0	62.0	63.0					12																	7947285		2203	4300	6503	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7947285C>A	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.512C>A	12.37:g.7947285C>A	ENSP00000229307:p.Ala171Glu					NANOG_ENST00000526286.1_Intron	p.A171E	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	4	731	+			171					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.512C>A	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	5.489	0.275236	0.10403	.	.	ENSG00000111704	ENST00000541267;ENST00000229307	D;D	0.91894	-2.89;-2.93	4.21	1.22	0.21188	.	0.726858	0.12982	N	0.423172	D	0.90974	0.7162	L	0.51422	1.61	0.09310	N	1	D	0.69078	0.997	D	0.66084	0.941	T	0.80369	-0.1411	10	0.06625	T	0.88	0.6613	4.2405	0.10645	0.0:0.5909:0.1908:0.2183	.	171	Q9H9S0	NANOG_HUMAN	E	147;171	ENSP00000444434:A147E;ENSP00000229307:A171E	ENSP00000229307:A171E	A	+	2	0	NANOG	7838552	0.000000	0.05858	0.002000	0.10522	0.293000	0.27360	0.061000	0.14366	0.322000	0.23283	0.555000	0.69702	GCA		0.507	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865		9	11	1	0	0.00621372	1	0.00630786	9	11				
OR10Q1	219960	broad.mit.edu	37	11	57995989	57995989	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr11:57995989G>A	ENST00000316770.2	-	1	401	c.359C>T	c.(358-360)gCg>gTg	p.A120V		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGCCATGATCGCCAAGAGGAA	0.587																																						ENST00000316770.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(358-360)gCg>gTg		olfactory receptor, family 10, subfamily Q, member 1							91.0	76.0	81.0					11																	57995989		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995989G>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.359C>T	11.37:g.57995989G>A	ENSP00000314324:p.Ala120Val						p.A120V	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	401	-		Breast(21;0.0589)	120					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.359C>T	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904768	0.52333	.	.	ENSG00000180475	ENST00000316770	T	0.01379	4.96	4.45	4.45	0.53987	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000717	T	0.03915	0.0110	L	0.56199	1.76	0.30536	N	0.76698	D	0.61080	0.989	P	0.50825	0.651	T	0.02639	-1.1130	10	0.72032	D	0.01	.	16.2561	0.82517	0.0:0.0:1.0:0.0	.	120	Q8NGQ4	O10Q1_HUMAN	V	120	ENSP00000314324:A120V	ENSP00000314324:A120V	A	-	2	0	OR10Q1	57752565	0.913000	0.31002	0.789000	0.31954	0.004000	0.04260	3.185000	0.50934	2.298000	0.77334	0.557000	0.71058	GCG		0.587	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		7	19	0	0	0	1	0	7	19				
MED23	9439	broad.mit.edu	37	6	131908954	131908954	+	Silent	SNP	A	A	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr6:131908954A>T	ENST00000368068.3	-	29	4151	c.3972T>A	c.(3970-3972)gcT>gcA	p.A1324A	MED23_ENST00000368060.3_Silent_p.A1324A|MED23_ENST00000403834.3_Silent_p.A1330A|MED23_ENST00000545957.1_Silent_p.A965A|MED23_ENST00000354577.4_Silent_p.A1330A|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.A1330A	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1324					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GAAGTTTTAAAGCTGGTTTTA	0.393																																						ENST00000403834.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44						c.(3988-3990)gcT>gcA		mediator complex subunit 23							90.0	83.0	86.0					6																	131908954		2203	4300	6503	SO:0001819	synonymous_variant	9439				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity	g.chr6:131908954A>T	AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3972T>A	6.37:g.131908954A>T						MED23_ENST00000545957.1_Silent_p.A965A|MED23_ENST00000368068.3_Silent_p.A1324A|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368060.3_Silent_p.A1324A|MED23_ENST00000368058.1_Silent_p.A1330A|MED23_ENST00000354577.4_Silent_p.A1330A	p.A1330A			Q9ULK4	MED23_HUMAN		GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)	29	4163	-	Breast(56;0.0753)		1324					B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	c.3990T>A	CCDS5147.1																																																																																				0.393	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			5	10	0	0	0	1	0	5	10				
OR9I1	219954	broad.mit.edu	37	11	57886182	57886182	+	Missense_Mutation	SNP	G	G	C			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr11:57886182G>C	ENST00000302610.1	-	1	734	c.735C>G	c.(733-735)atC>atG	p.I245M	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				CCACAGCAGTGATGTGAGAGG	0.468																																						ENST00000302610.1																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(733-735)atC>atG		olfactory receptor, family 9, subfamily I, member 1							107.0	92.0	97.0					11																	57886182		2201	4296	6497	SO:0001583	missense	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886182G>C	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.735C>G	11.37:g.57886182G>C	ENSP00000302606:p.Ile245Met					OR9Q1_ENST00000335397.3_Intron	p.I245M	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN			1	734	-		Breast(21;0.0589)	245					Q6IFH0|Q96RA8	Missense_Mutation	SNP	ENST00000302610.1	37	c.735C>G	CCDS31542.1	.	.	.	.	.	.	.	.	.	.	G	8.076	0.771400	0.16051	.	.	ENSG00000172377	ENST00000302610	T	0.40476	1.03	4.87	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.173117	0.27710	N	0.018165	T	0.35364	0.0929	N	0.17674	0.51	0.29002	N	0.887425	P	0.44690	0.841	P	0.47470	0.548	T	0.20140	-1.0284	10	0.41790	T	0.15	-30.9627	12.9385	0.58329	0.0:0.4362:0.5638:0.0	.	245	Q8NGQ6	OR9I1_HUMAN	M	245	ENSP00000302606:I245M	ENSP00000302606:I245M	I	-	3	3	OR9I1	57642758	0.688000	0.27680	1.000000	0.80357	0.706000	0.40770	0.583000	0.23849	1.400000	0.46741	0.467000	0.42956	ATC		0.468	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		4	48	0	0	0	1	0	4	48				
HRC	3270	broad.mit.edu	37	19	49657892	49657892	+	Silent	SNP	C	C	T	rs571697189	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr19:49657892C>T	ENST00000252825.4	-	1	789	c.603G>A	c.(601-603)gaG>gaA	p.E201E	HRC_ENST00000595625.1_Silent_p.E201E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	201	4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).				cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		cctcctcttcctcctcctcct	0.557													c|||	19	0.00379393	0.0106	0.0	5008	,	,		23115	0.003		0.001	False		,,,				2504	0.001				Melanoma(37;75 1097 24567 25669 30645)	ENST00000252825.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34						c.(601-603)gaG>gaA		histidine rich calcium binding protein							120.0	92.0	101.0					19																	49657892		2203	4300	6503	SO:0001819	synonymous_variant	3270				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr19:49657892C>T		CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.603G>A	19.37:g.49657892C>T						HRC_ENST00000595625.1_Silent_p.E201E	p.E201E	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)	1	789	-		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	201			4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic).		Q504Y6	Silent	SNP	ENST00000252825.4	37	c.603G>A	CCDS12759.1																																																																																				0.557	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	NM_002152		3	46	0	0	0	1	0	3	46				
SLC6A6	6533	broad.mit.edu	37	3	14518782	14518782	+	Missense_Mutation	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr3:14518782C>T	ENST00000454876.2	+	11	1608	c.1279C>T	c.(1279-1281)Cgt>Tgt	p.R427C	SLC6A6_ENST00000360861.3_Missense_Mutation_p.R427C			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	427					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)	p.R427C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GAAGGGTTATCGTCGGGAAAT	0.517																																						ENST00000454876.2																			1	Substitution - Missense(1)	p.R427C(1)	skin(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(1279-1281)Cgt>Tgt		solute carrier family 6 (neurotransmitter transporter), member 6							193.0	158.0	170.0					3																	14518782		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14518782C>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1279C>T	3.37:g.14518782C>T	ENSP00000398063:p.Arg427Cys					SLC6A6_ENST00000360861.3_Missense_Mutation_p.R427C	p.R427C			P31641	SC6A6_HUMAN			11	1608	+			427					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1279C>T	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290497	0.80914	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.76186	-1.0;-1.0	4.73	4.73	0.59995	.	0.221537	0.48286	D	0.000193	T	0.73202	0.3557	L	0.50993	1.605	0.80722	D	1	P	0.36599	0.56	B	0.39027	0.288	T	0.77659	-0.2505	10	0.87932	D	0	.	18.0768	0.89430	0.0:1.0:0.0:0.0	.	427	P31641	SC6A6_HUMAN	C	427	ENSP00000398063:R427C;ENSP00000354107:R427C	ENSP00000354107:R427C	R	+	1	0	SLC6A6	14493786	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.750000	0.85110	2.325000	0.78763	0.491000	0.48974	CGT		0.517	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		28	51	0	0	0	1	0	28	51				
CAPZA1	829	broad.mit.edu	37	1	113212672	113212672	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:113212672G>A	ENST00000263168.3	+	10	1451	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	260					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTTGCGCCGGCAGCTTCCA	0.418																																						ENST00000263168.3																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9						c.(778-780)cGg>cAg		capping protein (actin filament) muscle Z-line, alpha 1							70.0	67.0	68.0					1																	113212672		2203	4300	6503	SO:0001583	missense	829				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding	g.chr1:113212672G>A	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.779G>A	1.37:g.113212672G>A	ENSP00000263168:p.Arg260Gln					CAPZA1_ENST00000476936.1_3'UTR	p.R260Q	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1451	+	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	260					Q53FQ6|Q6FHD5	Missense_Mutation	SNP	ENST00000263168.3	37	c.779G>A	CCDS30805.1	.	.	.	.	.	.	.	.	.	.	G	34	5.389343	0.95988	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.67	4.76	0.60689	F-actin capping protein, alpha subunit, conserved site (1);	0.054707	0.85682	D	0.000000	T	0.66096	0.2755	M	0.93939	3.475	0.49798	D	0.999827	B	0.19331	0.035	B	0.13407	0.009	T	0.73122	-0.4082	9	0.87932	D	0	-27.6084	14.5169	0.67826	0.0713:0.0:0.9287:0.0	.	260	P52907	CAZA1_HUMAN	Q	260	.	ENSP00000263168:R260Q	R	+	2	0	CAPZA1	113014195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.791000	0.99081	1.541000	0.49316	0.650000	0.86243	CGG		0.418	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032567.2	NM_006135		18	49	0	0	0	1	0	18	49				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	102	0	0	0	1	0	4	102				
PCDHB5	26167	broad.mit.edu	37	5	140516147	140516147	+	Silent	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr5:140516147C>T	ENST00000231134.5	+	1	1348	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	377	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N377N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGGACAACGGTAGGATGA	0.483																																						ENST00000231134.5																			1	Substitution - coding silent(1)	p.N377N(1)	endometrium(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1129-1131)aaC>aaT									80.0	84.0	83.0					5																	140516147		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516147C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1131C>T	5.37:g.140516147C>T							p.N377N	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1348	+			377			Cadherin 4.		Q549F4|Q9UFU9	Silent	SNP	ENST00000231134.5	37	c.1131C>T	CCDS4247.1																																																																																				0.483	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		15	44	0	0	0	1	0	15	44				
HMCN1	83872	broad.mit.edu	37	1	185951499	185951499	+	Missense_Mutation	SNP	G	G	A	rs144772706		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:185951499G>A	ENST00000271588.4	+	18	2997	c.2768G>A	c.(2767-2769)cGg>cAg	p.R923Q	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R923Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	923	Ig-like C2-type 6.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R923Q(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCAGAACGTCGGTGGATTAAG	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		19441	0.001		0.0	False		,,,				2504	0.0					ENST00000271588.4																			1	Substitution - Missense(1)	p.R923Q(1)	large_intestine(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(2767-2769)cGg>cAg		hemicentin 1		G	GLN/ARG	0,4406		0,0,2203	119.0	116.0	117.0		2768	2.3	1.0	1	dbSNP_134	117	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	923/5636	185951499	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185951499G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.2768G>A	1.37:g.185951499G>A	ENSP00000271588:p.Arg923Gln					HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R923Q	p.R923Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			18	2997	+			923			Ig-like C2-type 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.2768G>A	CCDS30956.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.89	2.669495	0.47677	0.0	1.16E-4	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.66280	-0.2;-0.2	4.92	2.34	0.29019	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.327767	0.33110	N	0.005271	T	0.44477	0.1295	L	0.33189	0.99	0.30240	N	0.795063	B;B	0.09022	0.001;0.002	B;B	0.14578	0.002;0.011	T	0.34129	-0.9841	10	0.12103	T	0.63	.	8.8639	0.35274	0.4356:0.0:0.5644:0.0	.	307;923	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	Q	923	ENSP00000271588:R923Q;ENSP00000356462:R923Q	ENSP00000271588:R923Q	R	+	2	0	HMCN1	184218122	0.994000	0.37717	0.997000	0.53966	0.977000	0.68977	1.293000	0.33353	0.320000	0.23234	0.650000	0.86243	CGG		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		35	73	0	0	0	1	0	35	73				
ATP2B4	493	broad.mit.edu	37	1	203677049	203677049	+	Silent	SNP	C	C	T	rs539003097		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:203677049C>T	ENST00000357681.5	+	10	2497	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	ATP2B4_ENST00000341360.2_Silent_p.N458N|ATP2B4_ENST00000391954.2_Silent_p.N458N|ATP2B4_ENST00000367219.3_Silent_p.N446N|ATP2B4_ENST00000367218.3_Silent_p.N458N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	458					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCATGGGCAACGCCACCGCCA	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		20929	0.0		0.0	False		,,,				2504	0.001					ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(1372-1374)aaC>aaT		ATPase, Ca++ transporting, plasma membrane 4							132.0	119.0	123.0					1																	203677049		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203677049C>T	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.1374C>T	1.37:g.203677049C>T						ATP2B4_ENST00000367219.3_Silent_p.N446N|ATP2B4_ENST00000341360.2_Silent_p.N458N|ATP2B4_ENST00000391954.2_Silent_p.N458N|ATP2B4_ENST00000367218.3_Silent_p.N458N	p.N458N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		10	2497	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		458					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.1374C>T	CCDS1440.1																																																																																				0.473	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		25	46	0	0	0	1	0	25	46				
ZNF883	169834	broad.mit.edu	37	9	115759948	115759948	+	lincRNA	SNP	G	G	A	rs189904941	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr9:115759948G>A	ENST00000427548.1	-	0	1865							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTCTGATGTCGGATTAGTGAT	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		20318	0.001		0.001	False		,,,				2504	0.0					ENST00000427548.1																			0													zinc finger protein 883		G	stop/ARG	0,4374		0,0,2187	68.0	71.0	70.0		592	-4.6	0.0	9		70	1,8589	1.2+/-3.3	0,1,4294	no	stop-gained	ZNF883	NM_001101338.1		0,1,6481	AA,AG,GG		0.0116,0.0,0.0077		198/380	115759948	1,12963	2187	4295	6482			169834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:115759948G>A	AK095843		9q32	2010-07-23			ENSG00000228623	ENSG00000228623		"""Zinc fingers, C2H2-type"""	27271	protein-coding gene	gene with protein product							Standard	NM_001101338		Approved		uc011lwy.2	P0CG24	OTTHUMG00000020514		9.37:g.115759948G>A										P0CG24	ZN883_HUMAN			0	1865	-									RNA	SNP	ENST00000427548.1	37																																																																																						0.413	ZNF883-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053704.1	NM_001101338		5	57	0	0	0	1	0	5	57				
TRAV9-2	28677	broad.mit.edu	37	14	22409639	22409639	+	RNA	SNP	G	G	A	rs369545967		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr14:22409639G>A	ENST00000390441.2	+	0	185									T cell receptor alpha variable 9-2																		TAAACTGCACGTACACAGCCA	0.488																																						ENST00000390441.2																			0															G		0,3842		0,0,1921	78.0	73.0	74.0			-5.4	0.3	14		74	1,8263		0,1,4131	no	intergenic				0,1,6052	AA,AG,GG		0.0121,0.0,0.0083			22409639	1,12105	1921	4132	6053			0							g.chr14:22409639G>A	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409639G>A														0	185	+									RNA	SNP	ENST00000390441.2	37																																																																																						0.488	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		3	22	0	0	0	1	0	3	22				
RP11-383M4.6	0	broad.mit.edu	37	9	84562526	84562526	+	lincRNA	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr9:84562526G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							TGCATGATCCGGAGACATCTT	0.488																																						ENST00000585776.1																			0																				72.0	58.0	62.0					9																	84562526		651	1561	2212			0							g.chr9:84562526G>A																													9.37:g.84562526G>A						SPATA31D3_ENST00000334208.4_RNA								0	942	-									RNA	SNP	ENST00000585776.1	37																																																																																						0.488	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			5	35	0	0	0	1	0	5	35				
PHAX	51808	broad.mit.edu	37	5	125936738	125936738	+	Silent	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr5:125936738G>A	ENST00000297540.4	+	1	779	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	28	Necessary for interaction with CBP80. {ECO:0000250}.				gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein transport (GO:0015031)|RNA metabolic process (GO:0016070)|snRNA export from nucleus (GO:0006408)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA binding (GO:0003723)|toxic substance binding (GO:0015643)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GCGACAGGCCGCTGCAATTGC	0.677																																						ENST00000297540.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						c.(82-84)ccG>ccA		phosphorylated adaptor for RNA export							41.0	34.0	36.0					5																	125936738		2203	4300	6503	SO:0001819	synonymous_variant	51808				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding	g.chr5:125936738G>A	AK023255	CCDS4138.1	5q23.2	2011-05-24	2008-10-01	2008-10-01	ENSG00000164902	ENSG00000164902			10241	protein-coding gene	gene with protein product		604924	"""RNA U, small nuclear RNA export adaptor (phosphorylation regulated)"""	RNUXA		10786834	Standard	NM_032177		Approved	FLJ13193	uc003kua.2	Q9H814	OTTHUMG00000163273	ENST00000297540.4:c.84G>A	5.37:g.125936738G>A						PHAX_ENST00000514725.1_3'UTR	p.P28P	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN			1	779	+			28			Necessary for interaction with CBP80 (By similarity).		Q9H8W1	Silent	SNP	ENST00000297540.4	37	c.84G>A	CCDS4138.1																																																																																				0.677	PHAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250924.1	NM_032177		4	6	0	0	0	1	0	4	6				
RNF43	54894	broad.mit.edu	37	17	56439945	56439945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr17:56439945G>T	ENST00000584437.1	-	5	2602	c.647C>A	c.(646-648)tCg>tAg	p.S216*	RNF43_ENST00000577716.1_Nonsense_Mutation_p.S216*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.S216*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.S175*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Nonsense_Mutation_p.S89*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.S89*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.S175*			Q68DV7	RNF43_HUMAN	ring finger protein 43	216					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S216L(2)|p.S216*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCGCAGCACCGAAGCCAGGAT	0.597																																						ENST00000584437.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)	p.S216L(2)|p.S216*(1)	large_intestine(2)|pancreas(1)	NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60						c.(646-648)tCg>tAg		ring finger protein 43							84.0	73.0	77.0					17																	56439945		2203	4300	6503	SO:0001587	stop_gained	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56439945G>T		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.647C>A	17.37:g.56439945G>T	ENSP00000463069:p.Ser216*					RNF43_ENST00000500597.2_Nonsense_Mutation_p.S175*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.S216*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.S89*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.S175*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.S216*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Nonsense_Mutation_p.S89*	p.S216*			Q68DV7	RNF43_HUMAN			5	2602	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		216					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Nonsense_Mutation	SNP	ENST00000584437.1	37	c.647C>A	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	42	9.741573	0.99252	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	.	.	.	5.43	3.44	0.39384	.	0.610117	0.16620	N	0.206515	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-19.4217	8.7259	0.34469	0.2594:0.0:0.7406:0.0	.	.	.	.	X	216;175	.	ENSP00000385328:S216X	S	-	2	0	RNF43	53794944	0.998000	0.40836	0.445000	0.26908	0.962000	0.63368	3.075000	0.50073	0.663000	0.31027	0.491000	0.48974	TCG		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		7	35	1	0	1.06961e-07	1	1.15587e-07	7	35				
HSPA2	3306	broad.mit.edu	37	14	65009231	65009231	+	Missense_Mutation	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr14:65009231C>T	ENST00000394709.1	+	2	1740	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000247207.6_Missense_Mutation_p.T555M			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	555					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ATCAAGCAGACGGTGGAAGAC	0.547																																					Pancreas(136;1211 1835 24894 31984 38227)	ENST00000247207.6																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22						c.(1663-1665)aCg>aTg		heat shock 70kDa protein 2							99.0	99.0	99.0					14																	65009231		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65009231C>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.1664C>T	14.37:g.65009231C>T	ENSP00000378199:p.Thr555Met					HSPA2_ENST00000394709.1_Missense_Mutation_p.T555M	p.T555M	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	1	2046	+			555					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.1664C>T	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451182	0.26074	.	.	ENSG00000126803	ENST00000394709;ENST00000247207;ENST00000545222	T;T	0.15372	2.43;2.43	5.31	4.4	0.53042	.	0.000000	0.56097	U	0.000030	T	0.30479	0.0766	M	0.90145	3.09	0.35692	D	0.814895	B	0.28636	0.218	B	0.25405	0.06	T	0.49103	-0.8974	10	0.72032	D	0.01	-0.6502	15.7842	0.78289	0.0:0.8633:0.1367:0.0	.	555	P54652	HSP72_HUMAN	M	555;555;329	ENSP00000378199:T555M;ENSP00000247207:T555M	ENSP00000247207:T555M	T	+	2	0	HSPA2	64078984	0.989000	0.36119	0.999000	0.59377	0.993000	0.82548	2.506000	0.45433	1.212000	0.43366	0.558000	0.71614	ACG		0.547	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			13	35	0	0	0	1	0	13	35				
CAMTA1	23261	broad.mit.edu	37	1	7804931	7804931	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:7804931G>A	ENST00000303635.7	+	17	4426	c.4219G>A	c.(4219-4221)Gcc>Acc	p.A1407T	CAMTA1_ENST00000476864.1_5'Flank|CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1407T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CATTATTGAAGCCACACCTGA	0.463			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(4219-4221)Gcc>Acc		calmodulin binding transcription activator 1							115.0	105.0	109.0					1																	7804931		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7804931G>A	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4219G>A	1.37:g.7804931G>A	ENSP00000306522:p.Ala1407Thr					CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1407T	p.A1407T	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	17	4426	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1407					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4219G>A	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	G	35	5.454966	0.96223	.	.	ENSG00000171735	ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	T;T	0.50548	0.74;1.07	5.44	5.44	0.79542	.	0.054877	0.64402	D	0.000001	T	0.69913	0.3164	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.998	D;D;D;D	0.91635	0.999;0.989;0.999;0.975	T	0.72434	-0.4295	10	0.72032	D	0.01	-21.1361	19.2599	0.93964	0.0:0.0:1.0:0.0	.	1407;494;363;1407	Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.;.;.;CMTA1_HUMAN	T	1407;1407;494;363	ENSP00000306522:A1407T;ENSP00000402561:A1407T	ENSP00000306522:A1407T	A	+	1	0	CAMTA1	7727518	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	9.807000	0.99171	2.549000	0.85964	0.655000	0.94253	GCC		0.463	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		14	53	0	0	0	1	0	14	53				
PIPSL	266971	broad.mit.edu	37	10	95720561	95720561	+	RNA	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr10:95720561G>A	ENST00000480546.1	-	0	736					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										CATTTTTACCGATCTTGGTAA	0.458																																						ENST00000480546.1																			0																																																			0							g.chr10:95720561G>A	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720561G>A								NR_002319.2						0	736	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.458	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		15	34	0	0	0	1	0	15	34				
CAV1	857	broad.mit.edu	37	7	116198999	116198999	+	Splice_Site	SNP	G	G	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr7:116198999G>T	ENST00000341049.2	+	3	473		c.e3-1		CAV1_ENST00000405348.1_Splice_Site|CAV1_ENST00000393468.1_Splice_Site|CAV1_ENST00000393467.1_Splice_Site|CAV1_ENST00000393470.1_Splice_Site	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CTTCCTTTTAGATTGACTTTG	0.393																																						ENST00000341049.2																			0				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.e3-1		caveolin 1, caveolae protein, 22kDa							61.0	52.0	55.0					7																	116198999		2203	4300	6503	SO:0001630	splice_region_variant	857				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding	g.chr7:116198999G>T	AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"""caveolin 1, caveolae protein, 22kD"""	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.196-1G>T	7.37:g.116198999G>T						CAV1_ENST00000393467.1_Splice_Site|CAV1_ENST00000393468.1_Splice_Site|CAV1_ENST00000405348.1_Splice_Site|CAV1_ENST00000393470.1_Splice_Site		NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		3	473	+	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)							Q9UGP1|Q9UNG1|Q9UQH6	Splice_Site	SNP	ENST00000341049.2	37		CCDS5767.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802742	0.70682	.	.	ENSG00000105974	ENST00000341049;ENST00000393470;ENST00000405348;ENST00000456473;ENST00000393468;ENST00000393467	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8309	0.96634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAV1	115986235	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.476000	0.97823	2.684000	0.91462	0.650000	0.86243	.		0.393	CAV1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059734.4	NM_001753	Intron	11	27	1	0	0.000673444	1	0.000694165	11	27				
POSTN	10631	broad.mit.edu	37	13	38164612	38164612	+	Missense_Mutation	SNP	G	G	A	rs201568682		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr13:38164612G>A	ENST00000379747.4	-	4	455	c.338C>T	c.(337-339)aCg>aTg	p.T113M	POSTN_ENST00000541481.1_Missense_Mutation_p.T113M|POSTN_ENST00000379743.4_Missense_Mutation_p.T113M|POSTN_ENST00000541179.1_Missense_Mutation_p.T113M|POSTN_ENST00000379749.4_Missense_Mutation_p.T113M|POSTN_ENST00000379742.4_Missense_Mutation_p.T113M	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	113	FAS1 1. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATAGCGCTGCGTTGTGGTGGC	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		12901	0.0		0.001	False		,,,				2504	0.0					ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(337-339)aCg>aTg		periostin, osteoblast specific factor							109.0	95.0	100.0					13																	38164612		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38164612G>A	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.338C>T	13.37:g.38164612G>A	ENSP00000369071:p.Thr113Met					POSTN_ENST00000379743.4_Missense_Mutation_p.T113M|POSTN_ENST00000379749.4_Missense_Mutation_p.T113M|POSTN_ENST00000541179.1_Missense_Mutation_p.T113M|POSTN_ENST00000379742.4_Missense_Mutation_p.T113M|POSTN_ENST00000541481.1_Missense_Mutation_p.T113M	p.T113M	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	4	455	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	113			FAS1 1.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.338C>T	CCDS9364.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	23.2	4.385346	0.82792	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481;ENST00000538347	D;D;D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64;-2.64;-2.64	5.36	5.36	0.76844	FAS1 domain (4);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	L	0.54863	1.705	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.998;1.0;1.0	D	0.93125	0.6528	10	0.38643	T	0.18	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	113;113;113;113;113;113;113	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	M	113;113;113;113;113;113;30	ENSP00000437959:T113M;ENSP00000369073:T113M;ENSP00000369071:T113M;ENSP00000369067:T113M;ENSP00000369066:T113M;ENSP00000437953:T113M	ENSP00000369066:T113M	T	-	2	0	POSTN	37062612	1.000000	0.71417	0.896000	0.35187	0.818000	0.46254	9.476000	0.97823	2.515000	0.84797	0.650000	0.86243	ACG		0.473	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		7	24	0	0	0	1	0	7	24				
LRIG2	9860	broad.mit.edu	37	1	113638882	113638882	+	Missense_Mutation	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:113638882C>T	ENST00000361127.5	+	8	1184	c.986C>T	c.(985-987)tCt>tTt	p.S329F		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	329					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGGATGAATCTGCCTTTGTG	0.383																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(985-987)tCt>tTt		leucine-rich repeats and immunoglobulin-like domains 2							180.0	176.0	177.0					1																	113638882		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113638882C>T	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.986C>T	1.37:g.113638882C>T	ENSP00000355396:p.Ser329Phe						p.S329F	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	8	1184	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	329					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.986C>T	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	c	11.59	1.682771	0.29872	.	.	ENSG00000198799	ENST00000361127	T	0.64085	-0.08	6.15	6.15	0.99193	.	0.109901	0.64402	D	0.000005	T	0.40570	0.1122	L	0.47078	1.49	0.42229	D	0.991887	B	0.12013	0.005	B	0.18263	0.021	T	0.28332	-1.0047	10	0.33940	T	0.23	.	11.028	0.47757	0.0:0.8631:0.0:0.1369	.	329	O94898	LRIG2_HUMAN	F	329	ENSP00000355396:S329F	ENSP00000355396:S329F	S	+	2	0	LRIG2	113440405	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.596000	0.54024	2.932000	0.99384	0.643000	0.83706	TCT		0.383	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		19	92	0	0	0	1	0	19	92				
IFNA17	3451	broad.mit.edu	37	9	21228048	21228048	+	Missense_Mutation	SNP	G	G	C	rs141448576		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr9:21228048G>C	ENST00000413767.2	-	1	173	c.125C>G	c.(124-126)gCa>gGa	p.A42G		NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN	interferon, alpha 17	42					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9				Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TCCCATTTGTGCCAGGAGTAT	0.517													g|||	1	0.000199681	0.0	0.0014	5008	,	,		20120	0.0		0.0	False		,,,				2504	0.0					ENST00000413767.2																			0				breast(1)|endometrium(2)|lung(4)|ovary(1)|skin(1)	9						c.(124-126)gCa>gGa		interferon, alpha 17		G	GLY/ALA	0,4406		0,0,2203	77.0	80.0	79.0		125	-1.9	0.0	9	dbSNP_134	79	2,8592	2.2+/-6.3	0,2,4295	no	missense	IFNA17	NM_021268.2	60	0,2,6498	CC,CG,GG		0.0233,0.0,0.0154	benign	42/190	21228048	2,12998	2203	4297	6500	SO:0001583	missense	3451				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21228048G>C		CCDS6500.1	9p22	2010-12-10			ENSG00000234829	ENSG00000234829		"""Interferons"""	5422	protein-coding gene	gene with protein product		147583				1385305	Standard	NM_021268		Approved	LEIF2C1, IFN-alphaI	uc003zos.1	P01571	OTTHUMG00000019667	ENST00000413767.2:c.125C>G	9.37:g.21228048G>C	ENSP00000411940:p.Ala42Gly						p.A42G	NM_021268.2	NP_067091.1	P01571	IFN17_HUMAN		Lung(24;2.13e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	173	-			42					Q14639|Q4KMT4|Q5VZ53|Q7M4Q4	Missense_Mutation	SNP	ENST00000413767.2	37	c.125C>G	CCDS6500.1	.	.	.	.	.	.	.	.	.	.	g	1.101	-0.661101	0.03454	0.0	2.33E-4	ENSG00000234829	ENST00000413767	T	0.05139	3.49	2.87	-1.92	0.07618	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.761996	0.12212	N	0.489217	T	0.02494	0.0076	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47661	-0.9100	10	0.11794	T	0.64	.	4.6395	0.12541	0.0:0.2509:0.4725:0.2766	.	42	P01571	IFN17_HUMAN	G	42	ENSP00000411940:A42G	ENSP00000411940:A42G	A	-	2	0	IFNA17	21218048	0.000000	0.05858	0.003000	0.11579	0.497000	0.33675	-1.503000	0.02277	-0.309000	0.08779	0.423000	0.28283	GCA		0.517	IFNA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051896.1	NM_021268		19	105	0	0	0	1	0	19	105				
TNFRSF8	943	broad.mit.edu	37	1	12198401	12198401	+	Missense_Mutation	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:12198401C>T	ENST00000263932.2	+	14	1673	c.1451C>T	c.(1450-1452)cCg>cTg	p.P484L	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P372L|TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000413146.2_Missense_Mutation_p.P21L	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	484					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GAGAGCCTGCCGCTGCAGGAT	0.662																																						ENST00000263932.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(1450-1452)cCg>cTg		tumor necrosis factor receptor superfamily, member 8							25.0	28.0	27.0					1																	12198401		2199	4297	6496	SO:0001583	missense	0				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12198401C>T	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.1451C>T	1.37:g.12198401C>T	ENSP00000263932:p.Pro484Leu					TNFRSF8_ENST00000417814.2_Missense_Mutation_p.P372L|TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000413146.2_Missense_Mutation_p.P21L	p.P484L	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	14	1673	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	484					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.1451C>T	CCDS144.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022394	0.35701	.	.	ENSG00000120949	ENST00000263932;ENST00000417814;ENST00000413146	T;T;T	0.22743	1.94;1.94;1.94	4.66	-4.67	0.03319	.	6.137680	0.00397	N	0.000040	T	0.12561	0.0305	L	0.44542	1.39	0.09310	N	1	B;P	0.36144	0.052;0.539	B;B	0.18871	0.009;0.023	T	0.22312	-1.0220	10	0.52906	T	0.07	-2.1128	2.1105	0.03702	0.2095:0.4421:0.15:0.1984	.	372;484	D3YTD8;P28908	.;TNR8_HUMAN	L	484;372;21	ENSP00000263932:P484L;ENSP00000390650:P372L;ENSP00000398337:P21L	ENSP00000263932:P484L	P	+	2	0	TNFRSF8	12120988	0.000000	0.05858	0.002000	0.10522	0.074000	0.17049	-0.232000	0.09055	-0.610000	0.05716	0.485000	0.47835	CCG		0.662	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1			7	27	0	0	0	1	0	7	27				
TRIM56	81844	broad.mit.edu	37	7	100730969	100730969	+	Missense_Mutation	SNP	G	G	C			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr7:100730969G>C	ENST00000306085.6	+	3	673	c.376G>C	c.(376-378)Gac>Cac	p.D126H		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	126					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGCCGATGACTTGTGCCA	0.716																																					Ovarian(89;1092 1379 22756 38989 39611)	ENST00000306085.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(376-378)Gac>Cac		tripartite motif containing 56							12.0	15.0	14.0					7																	100730969		2018	4135	6153	SO:0001583	missense	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730969G>C	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.376G>C	7.37:g.100730969G>C	ENSP00000305161:p.Asp126His						p.D126H	NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN			3	673	+	Lung NSC(181;0.136)|all_lung(186;0.182)		126					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	ENST00000306085.6	37	c.376G>C	CCDS43625.1	.	.	.	.	.	.	.	.	.	.	G	4.821	0.152717	0.09185	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.42131	0.98;1.33	3.8	2.92	0.33932	.	0.141437	0.32901	N	0.005520	T	0.26376	0.0644	N	0.14661	0.345	0.20403	N	0.999901	P;P	0.45902	0.868;0.838	B;P	0.47206	0.399;0.541	T	0.08472	-1.0720	10	0.15066	T	0.55	.	7.1529	0.25620	0.1216:0.0:0.8784:0.0	.	126;126	C9JI91;Q9BRZ2	.;TRI56_HUMAN	H	126	ENSP00000305161:D126H;ENSP00000404186:D126H	ENSP00000305161:D126H	D	+	1	0	TRIM56	100517689	0.003000	0.15002	0.763000	0.31416	0.386000	0.30323	0.385000	0.20685	1.168000	0.42723	0.655000	0.94253	GAC		0.716	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961		7	24	0	0	0	1	0	7	24				
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101								p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.S101N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)aGt>aAt																																						SO:0001583	missense	0							g.chr20:29628300G>A			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.302G>A	20.37:g.29628300G>A	ENSP00000278882:p.Ser101Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N	p.S101N							6	682	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	g	10.56	1.384968	0.25031	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	N	0.000001	T	0.33265	0.0857	.	.	.	0.40357	D	0.979199	B;B	0.16802	0.003;0.019	B;B	0.16289	0.007;0.015	T	0.20605	-1.0270	9	0.33940	T	0.23	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	N	101;106;101	ENSP00000408863:S106N	ENSP00000278882:S101N	S	+	2	0	FRG1B	28241961	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	2.004000	0.40854	1.475000	0.48197	0.423000	0.28283	AGT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	57	0	0	0	1	0	5	57				
PADI4	23569	broad.mit.edu	37	1	17668843	17668843	+	Missense_Mutation	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:17668843C>T	ENST00000375448.4	+	8	907	c.881C>T	c.(880-882)gCg>gTg	p.A294V	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	294					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TTCCGCGTGGCGCCCTGGATC	0.677																																						ENST00000375448.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26						c.(880-882)gCg>gTg		peptidyl arginine deiminase, type IV	L-Citrulline(DB00155)						57.0	54.0	55.0					1																	17668843		2203	4300	6503	SO:0001583	missense	23569				chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17668843C>T	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.881C>T	1.37:g.17668843C>T	ENSP00000364597:p.Ala294Val					AC004824.2_ENST00000602074.1_Intron	p.A294V	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	8	907	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	294					A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	c.881C>T	CCDS180.1	.	.	.	.	.	.	.	.	.	.	c	27.7	4.853501	0.91355	.	.	ENSG00000159339	ENST00000375448	T	0.32753	1.44	4.97	4.97	0.65823	Protein-arginine deiminase, C-terminal (1);	0.059587	0.64402	D	0.000002	T	0.65595	0.2706	M	0.93594	3.435	0.42398	D	0.992554	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76315	-0.3004	10	0.87932	D	0	-30.1701	15.0236	0.71650	0.0:1.0:0.0:0.0	.	294;294	A8K392;Q9UM07	.;PADI4_HUMAN	V	294	ENSP00000364597:A294V	ENSP00000364597:A294V	A	+	2	0	PADI4	17541430	1.000000	0.71417	0.984000	0.44739	0.923000	0.55619	6.040000	0.70980	2.312000	0.78011	0.555000	0.69702	GCG		0.677	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387		9	34	0	0	0	1	0	9	34				
CSMD2	114784	broad.mit.edu	37	1	33998700	33998700	+	Missense_Mutation	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:33998700C>T	ENST00000373381.4	-	64	10297	c.10121G>A	c.(10120-10122)cGc>cAc	p.R3374H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTGCAGGTGCGGTGCTCGGA	0.657																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(10120-10122)cGc>cAc		CUB and Sushi multiple domains 2							35.0	33.0	34.0					1																	33998700		2203	4299	6502	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:33998700C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.10121G>A	1.37:g.33998700C>T	ENSP00000362479:p.Arg3374His						p.R3374H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			64	10297	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3230					B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.10121G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.529132	0.96446	.	.	ENSG00000121904	ENST00000373381	T	0.65549	-0.16	5.46	5.46	0.80206	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.86276	0.5894	H	0.95917	3.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90530	0.4495	10	0.87932	D	0	.	18.2725	0.90072	0.0:1.0:0.0:0.0	.	3230;3374	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	3374	ENSP00000362479:R3374H	ENSP00000241312:R3230H	R	-	2	0	CSMD2	33771287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.732000	0.84908	2.554000	0.86153	0.555000	0.69702	CGC		0.657	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		8	22	0	0	0	1	0	8	22				
ADAMTSL4	54507	broad.mit.edu	37	1	150529231	150529231	+	Missense_Mutation	SNP	T	T	C			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr1:150529231T>C	ENST00000369038.2	+	8	1912	c.1711T>C	c.(1711-1713)Tcg>Ccg	p.S571P	ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S571P|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S594P|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.S571P|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	571					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAGAGTCTGTCGGCTGAAGG	0.652																																						ENST00000271643.4																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32						c.(1711-1713)Tcg>Ccg		ADAMTS-like 4							97.0	115.0	109.0					1																	150529231		2203	4300	6503	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150529231T>C	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.1711T>C	1.37:g.150529231T>C	ENSP00000358034:p.Ser571Pro					ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.S594P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.S571P|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.S571P	p.S571P	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		10	1947	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		571					B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.1711T>C	CCDS955.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.979603	0.53827	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	4.68	2.08	0.27032	ADAM-TS Spacer 1 (1);	.	.	.	.	T	0.41003	0.1140	L	0.60067	1.865	0.34841	D	0.740708	D;D;D;D	0.55800	0.973;0.966;0.966;0.958	P;P;P;P	0.57679	0.825;0.735;0.697;0.563	T	0.30090	-0.9990	9	0.38643	T	0.18	.	8.154	0.31158	0.3348:0.0:0.0:0.6652	.	594;594;571;571	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	P	571;571;109;594;571	ENSP00000358037:S571P;ENSP00000271643:S571P;ENSP00000358035:S594P;ENSP00000358034:S571P	ENSP00000271643:S571P	S	+	1	0	ADAMTSL4	148795855	0.011000	0.17503	0.938000	0.37757	0.697000	0.40408	0.098000	0.15189	0.759000	0.33084	0.460000	0.39030	TCG		0.652	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032		25	112	0	0	0	1	0	25	112				
NEB	4703	broad.mit.edu	37	2	152529086	152529086	+	Missense_Mutation	SNP	A	A	G			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr2:152529086A>G	ENST00000172853.10	-	37	4243	c.4096T>C	c.(4096-4098)Tct>Cct	p.S1366P	NEB_ENST00000397345.3_Missense_Mutation_p.S1366P|NEB_ENST00000603639.1_Missense_Mutation_p.S1366P|NEB_ENST00000409198.1_Missense_Mutation_p.S1366P|NEB_ENST00000604864.1_Missense_Mutation_p.S1366P|NEB_ENST00000427231.2_Missense_Mutation_p.S1366P			P20929	NEBU_HUMAN	nebulin	1366					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACGATCAGACTGCAGCTTT	0.478																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(4096-4098)Tct>Cct		nebulin							138.0	134.0	135.0					2																	152529086		1964	4141	6105	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152529086A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4096T>C	2.37:g.152529086A>G	ENSP00000172853:p.Ser1366Pro					NEB_ENST00000409198.1_Missense_Mutation_p.S1366P|NEB_ENST00000397345.3_Missense_Mutation_p.S1366P|NEB_ENST00000172853.10_Missense_Mutation_p.S1366P|NEB_ENST00000604864.1_Missense_Mutation_p.S1366P|NEB_ENST00000603639.1_Missense_Mutation_p.S1366P	p.S1366P	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	37	4298	-			1366					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.4096T>C		.	.	.	.	.	.	.	.	.	.	A	17.88	3.496913	0.64186	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.92	5.92	0.95590	.	0.119017	0.56097	D	0.000024	D	0.92675	0.7672	M	0.92604	3.325	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93983	0.7260	10	0.87932	D	0	.	12.5753	0.56359	0.8758:0.0:0.0:0.1242	.	1366	P20929	NEBU_HUMAN	P	1366	ENSP00000386259:S1366P;ENSP00000380505:S1366P;ENSP00000416578:S1366P;ENSP00000172853:S1366P	ENSP00000172853:S1366P	S	-	1	0	NEB	152237332	1.000000	0.71417	0.995000	0.50966	0.501000	0.33797	4.011000	0.57124	2.277000	0.76020	0.528000	0.53228	TCT		0.478	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		29	67	0	0	0	1	0	29	67				
HEATR9	256957	broad.mit.edu	37	17	34192290	34192290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr17:34192290C>T	ENST00000311880.2	-	3	397	c.249G>A	c.(247-249)tgG>tgA	p.W83*	C17orf66_ENST00000592980.1_Nonsense_Mutation_p.W83*|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		83					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ACAGGTCGTGCCAGTGCGTGT	0.502																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(247-249)tgG>tgA		chromosome 17 open reading frame 66							223.0	186.0	198.0					17																	34192290		2203	4300	6503	SO:0001587	stop_gained	256957						binding	g.chr17:34192290C>T																												ENST00000311880.2:c.249G>A	17.37:g.34192290C>T	ENSP00000309560:p.Trp83*					C17orf66_ENST00000592980.1_Nonsense_Mutation_p.W83*|C17orf66_ENST00000587585.1_5'UTR	p.W83*	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	3	397	-		Ovarian(249;0.17)	83					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Nonsense_Mutation	SNP	ENST00000311880.2	37	c.249G>A	CCDS11299.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.449274	0.84101	.	.	ENSG00000172653	ENST00000311880	.	.	.	4.27	4.27	0.50696	.	0.000000	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4901	0.55895	0.0:1.0:0.0:0.0	.	.	.	.	X	83	.	ENSP00000309560:W83X	W	-	3	0	C17orf66	31216403	0.977000	0.34250	0.982000	0.44146	0.097000	0.18754	3.018000	0.49625	2.679000	0.91253	0.655000	0.94253	TGG		0.502	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			6	23	0	0	0	1	0	6	23				
SPATS2	65244	broad.mit.edu	37	12	49888746	49888746	+	Missense_Mutation	SNP	G	G	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:49888746G>T	ENST00000553127.1	+	8	1000	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	SPATS2_ENST00000552918.1_Missense_Mutation_p.D163Y|SPATS2_ENST00000321898.6_Missense_Mutation_p.D163Y|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	163						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGAATTGGAGGATCCCGAGTC	0.438																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(487-489)Gat>Tat		spermatogenesis associated, serine-rich 2							101.0	95.0	97.0					12																	49888746		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49888746G>T	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.487G>T	12.37:g.49888746G>T	ENSP00000448228:p.Asp163Tyr					SPATS2_ENST00000552918.1_Missense_Mutation_p.D163Y|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.D163Y	p.D163Y			Q86XZ4	SPAS2_HUMAN			8	1000	+			163					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.487G>T	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907145	0.72868	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.34	5.34	0.76211	.	0.097055	0.64402	D	0.000002	T	0.78142	0.4237	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78069	-0.2348	8	.	.	.	-18.5478	16.5345	0.84369	0.0:0.0:1.0:0.0	.	163	Q86XZ4	SPAS2_HUMAN	Y	163	.	.	D	+	1	0	SPATS2	48175013	1.000000	0.71417	0.994000	0.49952	0.913000	0.54294	5.261000	0.65496	2.492000	0.84095	0.655000	0.94253	GAT		0.438	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		8	42	1	0	0.000274275	1	0.000287132	8	42				
SBF1	6305	broad.mit.edu	37	22	50900074	50900074	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr22:50900074G>A	ENST00000390679.3	-	22	2901	c.2717C>T	c.(2716-2718)cCg>cTg	p.P906L	SBF1_ENST00000380817.3_Missense_Mutation_p.P906L|SBF1_ENST00000348911.6_Missense_Mutation_p.P907L			O95248	MTMR5_HUMAN	SET binding factor 1	906	GRAM.				cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCCCATCCGGCAGCAGGTA	0.682																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2716-2718)cCg>cTg		SET binding factor 1							14.0	18.0	17.0					22																	50900074		2073	4183	6256	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50900074G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2717C>T	22.37:g.50900074G>A	ENSP00000375097:p.Pro906Leu					SBF1_ENST00000390679.3_Missense_Mutation_p.P906L|SBF1_ENST00000348911.6_Missense_Mutation_p.P907L	p.P906L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	22	2900	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	906			GRAM.		A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.2717C>T		.	.	.	.	.	.	.	.	.	.	G	21.8	4.202910	0.79127	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	D;D;D	0.86865	-2.18;-2.18;-2.18	4.1	4.1	0.47936	GRAM (2);	0.069044	0.64402	D	0.000016	D	0.92766	0.7700	M	0.78801	2.425	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.992	D;P;P	0.70935	0.971;0.766;0.67	D	0.93247	0.6631	10	0.51188	T	0.08	.	16.1138	0.81283	0.0:0.0:1.0:0.0	.	906;907;906	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	L	906;907;916;906	ENSP00000370196:P906L;ENSP00000252027:P907L;ENSP00000375097:P906L	ENSP00000336522:P916L	P	-	2	0	SBF1	49246940	0.999000	0.42202	0.324000	0.25361	0.780000	0.44128	6.096000	0.71446	2.137000	0.66172	0.467000	0.42956	CCG		0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				3	18	0	0	0	1	0	3	18				
CYP4F2	8529	broad.mit.edu	37	19	16003207	16003207	+	Missense_Mutation	SNP	C	C	T	rs61755872	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr19:16003207C>T	ENST00000221700.6	-	5	532	c.437G>A	c.(436-438)cGc>cAc	p.R146H	CYP4F2_ENST00000011989.7_5'UTR	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCGACGGTGGCGGCTCCACTT	0.562													.|||	2	0.000399361	0.0015	0.0	5008	,	,		18940	0.0		0.0	False		,,,				2504	0.0					ENST00000221700.5																			0				NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(436-438)cGc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 2		C	HIS/ARG	2,4404	6.2+/-15.9	0,2,2201	83.0	84.0	83.0		437	0.5	0.7	19	dbSNP_129	83	4,8596	3.7+/-12.6	0,4,4296	no	missense	CYP4F2	NM_001082.3	29	0,6,6497	TT,TC,CC		0.0465,0.0454,0.0461	benign	146/521	16003207	6,13000	2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:16003207C>T	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.437G>A	19.37:g.16003207C>T	ENSP00000221700:p.Arg146His					CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R146H	p.R146H	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN			5	532	-			146						Missense_Mutation	SNP	ENST00000221700.6	37	c.437G>A	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	c	9.490	1.100386	0.20552	4.54E-4	4.65E-4	ENSG00000186115	ENST00000221700	T	0.69306	-0.39	2.7	0.476	0.16779	.	0.089808	0.46442	U	0.000293	T	0.56877	0.2015	L	0.54908	1.71	0.80722	D	1	B	0.22800	0.075	B	0.29598	0.104	T	0.50882	-0.8775	10	0.44086	T	0.13	.	6.5262	0.22303	0.0:0.721:0.0:0.279	.	146	P78329	CP4F2_HUMAN	H	146	ENSP00000221700:R146H	ENSP00000221700:R146H	R	-	2	0	CYP4F2	15864207	0.002000	0.14202	0.704000	0.30370	0.509000	0.34042	0.701000	0.25616	0.440000	0.26502	0.289000	0.19496	CGC		0.562	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3	NM_001082		15	56	0	0	0	1	0	15	56				
PKDREJ	10343	broad.mit.edu	37	22	46652736	46652736	+	Missense_Mutation	SNP	C	C	T	rs76372072	byFrequency	TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr22:46652736C>T	ENST00000253255.5	-	1	6483	c.6484G>A	c.(6484-6486)Gtc>Atc	p.V2162I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2162					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGATCAAGACGCAGATCATC	0.438													C|||	20	0.00399361	0.0	0.0014	5008	,	,		22468	0.0		0.004	False		,,,				2504	0.0153					ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(6484-6486)Gtc>Atc		polycystin (PKD) family receptor for egg jelly		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	69.0	65.0	66.0		6484	-1.2	0.2	22	dbSNP_131	66	27,8573	19.2+/-60.6	0,27,4273	yes	missense	PKDREJ	NM_006071.1	29	0,28,6475	TT,TC,CC		0.314,0.0227,0.2153	benign	2162/2254	46652736	28,12978	2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46652736C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.6484G>A	22.37:g.46652736C>T	ENSP00000253255:p.Val2162Ile						p.V2162I	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	6483	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	2162					B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.6484G>A	CCDS14073.1	5	0.0022893772893772895	0	0.0	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	1.026	-0.683404	0.03353	2.27E-4	0.00314	ENSG00000130943	ENST00000253255	T	0.68025	-0.3	5.56	-1.25	0.09405	Polycystin cation channel, PKD1/PKD2 (1);	0.500458	0.19230	N	0.119433	T	0.17662	0.0424	N	0.01048	-1.04	0.09310	N	1	B	0.23316	0.083	B	0.17433	0.018	T	0.37430	-0.9706	10	0.02654	T	1	-16.0576	5.5408	0.17038	0.0:0.4655:0.1792:0.3553	.	2162	Q9NTG1	PKDRE_HUMAN	I	2162	ENSP00000253255:V2162I	ENSP00000253255:V2162I	V	-	1	0	PKDREJ	45031400	0.214000	0.23563	0.180000	0.23079	0.511000	0.34104	0.016000	0.13377	-0.088000	0.12506	-0.455000	0.05494	GTC		0.438	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		14	47	0	0	0	1	0	14	47				
NISCH	11188	broad.mit.edu	37	3	52525926	52525926	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr3:52525926G>A	ENST00000479054.1	+	22	4015	c.3943G>A	c.(3943-3945)Gtc>Atc	p.V1315I	NISCH_ENST00000345716.4_Missense_Mutation_p.V1315I			Q9Y2I1	NISCH_HUMAN	nischarin	1315					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CTCTAGTCGCGTCAAGTTTAC	0.597																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(3943-3945)Gtc>Atc		nischarin							98.0	97.0	97.0					3																	52525926		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52525926G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3943G>A	3.37:g.52525926G>A	ENSP00000418232:p.Val1315Ile					NISCH_ENST00000479054.1_Missense_Mutation_p.V1315I	p.V1315I	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4077	+			1315					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.3943G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822482	0.90873	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.16324	2.35;2.35	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	L	0.32530	0.975	0.53688	D	0.999971	D	0.76494	0.999	D	0.72982	0.979	T	0.03706	-1.1011	10	0.72032	D	0.01	-44.0304	19.6109	0.95606	0.0:0.0:1.0:0.0	.	1315	Q9Y2I1	NISCH_HUMAN	I	1315;1315;239;659	ENSP00000418232:V1315I;ENSP00000339958:V1315I	ENSP00000339958:V1315I	V	+	1	0	NISCH	52500966	1.000000	0.71417	0.975000	0.42487	0.923000	0.55619	7.296000	0.78790	2.653000	0.90120	0.491000	0.48974	GTC		0.597	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		3	61	0	0	0	1	0	3	61				
GRIN2A	2903	broad.mit.edu	37	16	10274038	10274038	+	Silent	SNP	G	G	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr16:10274038G>A	ENST00000396573.2	-	3	540	c.231C>T	c.(229-231)acC>acT	p.T77T	GRIN2A_ENST00000404927.2_Silent_p.T77T|GRIN2A_ENST00000562109.1_Silent_p.T77T|GRIN2A_ENST00000330684.3_Silent_p.T77T|GRIN2A_ENST00000396575.2_Silent_p.T77T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	77					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCTTGGGGTCGGTGCGGTTCA	0.667																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(229-231)acC>acT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						96.0	93.0	94.0					16																	10274038		2197	4300	6497	SO:0001819	synonymous_variant	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274038G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.231C>T	16.37:g.10274038G>A						GRIN2A_ENST00000404927.2_Silent_p.T77T|GRIN2A_ENST00000562109.1_Silent_p.T77T|GRIN2A_ENST00000330684.3_Silent_p.T77T|GRIN2A_ENST00000396575.2_Silent_p.T77T	p.T77T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	540	-			77					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.231C>T	CCDS10539.1																																																																																				0.667	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			33	80	0	0	0	1	0	33	80				
NYAP2	57624	broad.mit.edu	37	2	226447623	226447623	+	Missense_Mutation	SNP	C	C	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr2:226447623C>A	ENST00000272907.6	+	4	1903	c.1490C>A	c.(1489-1491)gCa>gAa	p.A497E	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	497					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												ACCTACGGGGCAGCCCCGGGT	0.677																																						ENST00000272907.6																			0											c.(1489-1491)gCa>gAa		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							20.0	25.0	24.0					2																	226447623		1942	4130	6072	SO:0001583	missense	57624							g.chr2:226447623C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1490C>A	2.37:g.226447623C>A	ENSP00000272907:p.Ala497Glu					NYAP2_ENST00000409269.2_Intron	p.A497E	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1903	+			497					A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	c.1490C>A	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	C	2.238	-0.374441	0.05034	.	.	ENSG00000144460	ENST00000272907	T	0.30981	1.51	5.45	3.62	0.41486	.	0.496097	0.22906	N	0.054185	T	0.22589	0.0545	N	0.19112	0.55	0.58432	D	0.999999	B;B	0.22003	0.05;0.063	B;B	0.26202	0.049;0.067	T	0.02257	-1.1187	10	0.24483	T	0.36	-1.42	15.8904	0.79293	0.0:0.7453:0.2547:0.0	.	11;497	Q9P242-3;Q9P242	.;K1486_HUMAN	E	497	ENSP00000272907:A497E	ENSP00000272907:A497E	A	+	2	0	KIAA1486	226155867	0.992000	0.36948	0.003000	0.11579	0.001000	0.01503	7.416000	0.80143	0.643000	0.30638	-0.955000	0.02649	GCA		0.677	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		6	34	1	0	0.248553	1	0.248553	6	34				
SEMA5A	9037	broad.mit.edu	37	5	9122875	9122875	+	Silent	SNP	G	G	A	rs141153482		TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr5:9122875G>A	ENST00000382496.5	-	14	2339	c.1674C>T	c.(1672-1674)agC>agT	p.S558S		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	558	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						ATCCCACGGCGCTGCCATCTG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		12410	0.0		0.0	False		,,,				2504	0.001					ENST00000382496.5																			0				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						c.(1672-1674)agC>agT		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A		G		0,4406		0,0,2203	59.0	61.0	60.0		1674	-4.0	0.1	5	dbSNP_134	60	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	SEMA5A	NM_003966.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		558/1075	9122875	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9122875G>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.1674C>T	5.37:g.9122875G>A							p.S558S	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN			14	2339	-			558			TSP type-1 1.		D3DTC6|O60408|Q1RLL9	Silent	SNP	ENST00000382496.5	37	c.1674C>T	CCDS3875.1																																																																																				0.637	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			7	65	0	0	0	1	0	7	65				
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA22_ENST00000384614.1_RNA|SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			5	4						5	4	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92732960	92732960	+	Frame_Shift_Del	DEL	A	A	-			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr7:92732960delA	ENST00000379958.2	-	3	2720	c.2451delT	c.(2449-2451)gctfs	p.A817fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	817						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTAGCTATAGCTGTTTGAA	0.368																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2449-2451)gcfs		sterile alpha motif domain containing 9							76.0	77.0	77.0					7																	92732960		2203	4298	6501	SO:0001589	frameshift_variant	54809					cytoplasm		g.chr7:92732960delA	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2451delT	7.37:g.92732960delA	ENSP00000369292:p.Ala817fs						p.A817fs	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2720	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		817					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Frame_Shift_Del	DEL	ENST00000379958.2	37	c.2451delT	CCDS34680.1																																																																																				0.368	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		26	82						26	82	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49444975	49444976	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:49444975_49444976delAT	ENST00000301067.7	-	10	2489_2490	c.2490_2491delAT	c.(2488-2493)gaatcafs	p.ES830fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	830	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACAGGTGTGATTCCTCAGGTT	0.644																																						ENST00000301067.7																			0											c.(2488-2493)gacafs		lysine (K)-specific methyltransferase 2D																																				SO:0001589	frameshift_variant	8085							g.chr12:49444975_49444976delAT	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2490_2491delAT	12.37:g.49444975_49444976delAT	ENSP00000301067:p.Glu830fs						p.ES830fs	NM_003482.3	NP_003473.3					10	2489_2490	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.2490_2491delAT	CCDS44873.1																																																																																				0.644	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			21	68						21	68	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124957641	124957642	+	Frame_Shift_Ins	INS	-	-	A			TCGA-X4-A8KQ-01A-12D-A364-08	TCGA-X4-A8KQ-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04ded7a3-d7f2-43a0-9124-6e5a89a0013c	88958ce2-ad68-4691-967e-716477ec338a	g.chr12:124957641_124957642insA	ENST00000405201.1	-	4	447_448	c.447_448insT	c.(445-450)tctcccfs	p.P150fs	NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.P150fs|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.P150fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.P150fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.P150fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	150					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGCTGGGGGGAGACACCGGTT	0.639																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(445-450)tcccccfs		nuclear receptor corepressor 2																																				SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124957641_124957642insA	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.448dupT	12.37:g.124957642_124957642dupA	ENSP00000384018:p.Pro150fs					NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.SP149fs|NCOR2_ENST00000404121.2_5'UTR|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.SP149fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.SP149fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.SP149fs	p.SP149fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	5	602_603	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		149					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	ENST00000405201.1	37	c.447_448insT	CCDS41858.2																																																																																				0.639	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		17	43						17	43	---	---	---	---
