#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
SCN2A	6326	broad.mit.edu	37	2	166246006	166246006	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:166246006C>T	ENST00000375437.2	+	27	5980	c.5690C>T	c.(5689-5691)aCg>aTg	p.T1897M	SCN2A_ENST00000375427.2_Missense_Mutation_p.T1897M|SCN2A_ENST00000283256.6_Missense_Mutation_p.T1897M|SCN2A_ENST00000357398.3_Missense_Mutation_p.T1897M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1897					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGCCCATTACGACCACGTTG	0.453																																						ENST00000357398.3																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5689-5691)aCg>aTg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						90.0	83.0	85.0					2																	166246006		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166246006C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5690C>T	2.37:g.166246006C>T	ENSP00000364586:p.Thr1897Met					SCN2A_ENST00000375427.2_Missense_Mutation_p.T1897M|SCN2A_ENST00000375437.2_Missense_Mutation_p.T1897M|SCN2A_ENST00000283256.6_Missense_Mutation_p.T1897M	p.T1897M			Q99250	SCN2A_HUMAN			27	5980	+			1897					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.5690C>T	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676648	0.67928	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000001	D	0.98308	0.9439	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.924;0.999	D	0.98745	1.0718	10	0.87932	D	0	.	20.2011	0.98259	0.0:1.0:0.0:0.0	.	1897;1897	Q99250-2;Q99250	.;SCN2A_HUMAN	M	1897	ENSP00000364586:T1897M;ENSP00000349973:T1897M;ENSP00000283256:T1897M;ENSP00000364576:T1897M	ENSP00000283256:T1897M	T	+	2	0	SCN2A	165954252	1.000000	0.71417	0.791000	0.31998	0.981000	0.71138	7.782000	0.85680	2.785000	0.95823	0.585000	0.79938	ACG		0.453	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		9	40	0	0	0	1	0	9	40				
CSRP1	1465	broad.mit.edu	37	1	201453913	201453913	+	Silent	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:201453913A>G	ENST00000367306.1	-	7	873	c.510T>C	c.(508-510)tgT>tgC	p.C170C	CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C|CSRP1_ENST00000526723.1_Silent_p.C137C|CSRP1_ENST00000532460.1_Silent_p.C170C|CSRP1_ENST00000458271.2_5'Flank			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	170	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(2)|ovary(1)	6						TTTTAGCATAACATCCTGCAG	0.592																																						ENST00000367306.1																			0				large_intestine(3)|lung(2)|ovary(1)	6						c.(508-510)tgT>tgC		cysteine and glycine-rich protein 1							82.0	83.0	83.0					1																	201453913		2203	4300	6503	SO:0001819	synonymous_variant	1465					nucleus	zinc ion binding	g.chr1:201453913A>G	M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.510T>C	1.37:g.201453913A>G						CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C|CSRP1_ENST00000532460.1_Silent_p.C170C|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000526723.1_Silent_p.C137C	p.C170C			P21291	CSRP1_HUMAN			7	873	-			170			LIM zinc-binding 2.		A8K268|Q5U0J2	Silent	SNP	ENST00000367306.1	37	c.510T>C	CCDS1413.1																																																																																				0.592	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087027.1	NM_004078		6	26	0	0	0	1	0	6	26				
GDPD5	81544	broad.mit.edu	37	11	75146556	75146556	+	Missense_Mutation	SNP	C	C	T	rs551593132	byFrequency	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:75146556C>T	ENST00000336898.3	-	17	2651	c.1814G>A	c.(1813-1815)cGt>cAt	p.R605H	GDPD5_ENST00000533784.1_Missense_Mutation_p.R486H|GDPD5_ENST00000529721.1_Missense_Mutation_p.R605H|GDPD5_ENST00000526177.1_Missense_Mutation_p.R467H|GDPD5_ENST00000533805.1_Missense_Mutation_p.R360H|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000376282.3_Missense_Mutation_p.R486H	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	605					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CTTCAGCTAACGCCCACTCCG	0.592													C|||	4	0.000798722	0.0	0.0	5008	,	,		19386	0.0		0.0	False		,,,				2504	0.0041					ENST00000526177.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						c.(1399-1401)cGt>cAt		glycerophosphodiester phosphodiesterase domain containing 5							66.0	59.0	61.0					11																	75146556		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75146556C>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1814G>A	11.37:g.75146556C>T	ENSP00000337972:p.Arg605His					GDPD5_ENST00000336898.3_Missense_Mutation_p.R605H|GDPD5_ENST00000529721.1_Missense_Mutation_p.R605H|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Missense_Mutation_p.R486H|GDPD5_ENST00000533805.1_Missense_Mutation_p.R360H|GDPD5_ENST00000376282.3_Missense_Mutation_p.R486H	p.R467H			Q8WTR4	GDPD5_HUMAN			13	3278	-			605			GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.1400G>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008051	0.75046	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.16597	2.33;2.34;2.36;2.36;2.35;2.34	4.74	-1.98	0.07480	.	0.602094	0.15213	N	0.274342	T	0.06962	0.0177	N	0.08118	0	0.22266	N	0.999243	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.24941	-1.0146	10	0.87932	D	0	.	5.0714	0.14609	0.0:0.3104:0.1639:0.5257	.	486;605	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	H	467;486;605;605;360;486	ENSP00000434050:R467H;ENSP00000437049:R486H;ENSP00000433214:R605H;ENSP00000337972:R605H;ENSP00000435196:R360H;ENSP00000365459:R486H	ENSP00000337972:R605H	R	-	2	0	GDPD5	74824204	0.012000	0.17670	0.748000	0.31131	0.982000	0.71751	-0.589000	0.05767	-0.220000	0.09988	0.655000	0.94253	CGT		0.592	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		13	61	0	0	0	1	0	13	61				
ADCY9	115	broad.mit.edu	37	16	4165101	4165101	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:4165101G>A	ENST00000294016.3	-	2	881	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	115					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TACCGGAACCGGCGCTGGGTC	0.627																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(343-345)Cgg>Tgg		adenylate cyclase 9							53.0	61.0	58.0					16																	4165101		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4165101G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.343C>T	16.37:g.4165101G>A	ENSP00000294016:p.Arg115Trp						p.R115W	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	881	-			115					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.343C>T	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610380	0.66558	.	.	ENSG00000162104	ENST00000294016	T	0.74842	-0.88	5.32	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.84665	0.5522	M	0.69823	2.125	0.58432	D	0.999998	D	0.89917	1.0	D	0.73708	0.981	D	0.86721	0.1942	10	0.87932	D	0	.	15.8774	0.79178	0.0:0.0:0.775:0.225	.	115	O60503	ADCY9_HUMAN	W	115	ENSP00000294016:R115W	ENSP00000294016:R115W	R	-	1	2	ADCY9	4105102	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.766000	0.47629	2.501000	0.84356	0.555000	0.69702	CGG		0.627	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			13	59	0	0	0	1	0	13	59				
PYCARD	29108	broad.mit.edu	37	16	31213495	31213495	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:31213495C>T	ENST00000247470.9	-	2	605	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	102					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						TGAGGAGGGGCCTGGATCCCA	0.701																																						ENST00000247470.9																			0				NS(1)|kidney(1)	2						c.(304-306)Gcc>Acc		PYD and CARD domain containing							21.0	25.0	24.0					16																	31213495		2196	4297	6493	SO:0001583	missense	29108				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding	g.chr16:31213495C>T	AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.304G>A	16.37:g.31213495C>T	ENSP00000247470:p.Ala102Thr					C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron	p.A102T	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN			2	605	-			102					Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Missense_Mutation	SNP	ENST00000247470.9	37	c.304G>A	CCDS10708.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076956	0.36662	.	.	ENSG00000103490	ENST00000247470;ENST00000355986	T	0.70749	-0.51	3.31	1.26	0.21427	.	1.707430	0.03267	N	0.184210	T	0.60728	0.2291	L	0.40543	1.245	0.19300	N	0.99997	B	0.22211	0.066	B	0.18561	0.022	T	0.40079	-0.9582	10	0.35671	T	0.21	.	4.5341	0.12020	0.0:0.6403:0.2303:0.1294	.	102	Q9ULZ3	ASC_HUMAN	T	102;42	ENSP00000247470:A102T	ENSP00000247470:A102T	A	-	1	0	PYCARD	31120996	0.000000	0.05858	0.002000	0.10522	0.320000	0.28249	0.675000	0.25232	0.381000	0.24851	0.655000	0.94253	GCC		0.701	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13	NM_013258		11	28	0	0	0	1	0	11	28				
ANKRD55	79722	broad.mit.edu	37	5	55422829	55422829	+	Silent	SNP	C	C	T	rs376402466		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:55422829C>T	ENST00000341048.4	-	8	868	c.717G>A	c.(715-717)gcG>gcA	p.A239A	ANKRD55_ENST00000504958.2_Silent_p.A196A|RNU6-299P_ENST00000517223.1_RNA|ANKRD55_ENST00000505970.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	239										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGCCCGCTGCCGCTGCGATAT	0.493																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(715-717)gcG>gcA		ankyrin repeat domain 55		C		0,4406		0,0,2203	131.0	125.0	127.0		717	-11.2	0.0	5		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANKRD55	NM_024669.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		239/615	55422829	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79722							g.chr5:55422829C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.717G>A	5.37:g.55422829C>T						ANKRD55_ENST00000505970.2_Intron|ANKRD55_ENST00000504958.2_Silent_p.A196A	p.A239A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			8	868	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	238					B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	c.717G>A	CCDS34161.1																																																																																				0.493	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		4	124	0	0	0	1	0	4	124				
ITPRIP	85450	broad.mit.edu	37	10	106075334	106075334	+	Missense_Mutation	SNP	C	C	T	rs145318706		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:106075334C>T	ENST00000337478.1	-	2	647	c.476G>A	c.(475-477)cGt>cAt	p.R159H	ITPRIP_ENST00000278071.2_Missense_Mutation_p.R159H|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Missense_Mutation_p.R159H	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	159						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCCGGGTACGGGCTGCATC	0.657																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(475-477)cGt>cAt		inositol 1,4,5-trisphosphate receptor interacting protein							39.0	43.0	42.0					10																	106075334		2203	4299	6502	SO:0001583	missense	85450					plasma membrane		g.chr10:106075334C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.476G>A	10.37:g.106075334C>T	ENSP00000337178:p.Arg159His					ITPRIP_ENST00000358187.2_Missense_Mutation_p.R159H|ITPRIP_ENST00000337478.1_Missense_Mutation_p.R159H	p.R159H	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	928	-			159					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.476G>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922933	0.73213	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.25912	1.77;1.77;1.77	5.68	5.68	0.88126	.	0.048150	0.85682	D	0.000000	T	0.53642	0.1809	M	0.74881	2.28	0.44880	D	0.997892	D	0.89917	1.0	D	0.73708	0.981	T	0.50575	-0.8812	10	0.48119	T	0.1	-35.904	19.7782	0.96405	0.0:1.0:0.0:0.0	.	159	Q8IWB1	IPRI_HUMAN	H	159	ENSP00000337178:R159H;ENSP00000278071:R159H;ENSP00000350915:R159H	ENSP00000278071:R159H	R	-	2	0	ITPRIP	106065324	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	5.503000	0.66962	2.676000	0.91093	0.563000	0.77884	CGT		0.657	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		4	67	0	0	0	1	0	4	67				
ZNF281	23528	broad.mit.edu	37	1	200376763	200376763	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376763G>C	ENST00000294740.3	-	2	2195	c.2071C>G	c.(2071-2073)Caa>Gaa	p.Q691E	ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E|ZNF281_ENST00000367353.1_Missense_Mutation_p.Q691E	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	691					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGACAAATTGGAAACCGTGT	0.388																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2071-2073)Caa>Gaa		zinc finger protein 281							131.0	143.0	139.0					1																	200376763		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376763G>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2071C>G	1.37:g.200376763G>C	ENSP00000294740:p.Gln691Glu					ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E|ZNF281_ENST00000367353.1_Missense_Mutation_p.Q691E	p.Q691E	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2195	-			691					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2071C>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101072	0.56183	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.44083	0.93;0.93;0.93	5.54	5.54	0.83059	.	0.056520	0.64402	D	0.000001	T	0.42653	0.1212	L	0.51422	1.61	0.50632	D	0.999886	P;P	0.48764	0.915;0.915	B;B	0.40940	0.344;0.344	T	0.42999	-0.9418	10	0.52906	T	0.07	-2.5674	19.4807	0.95008	0.0:0.0:1.0:0.0	.	655;691	A6NF48;Q9Y2X9	.;ZN281_HUMAN	E	691;691;655;396	ENSP00000294740:Q691E;ENSP00000356322:Q691E;ENSP00000356321:Q655E	ENSP00000294740:Q691E	Q	-	1	0	ZNF281	198643386	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.003000	0.63959	2.597000	0.87782	0.655000	0.94253	CAA		0.388	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		6	157	0	0	0	1	0	6	157				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	66	0	0	0	1	0	3	66				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		8	37	0	0	0	1	0	8	37				
ZFP28	140612	broad.mit.edu	37	19	57065054	57065054	+	Splice_Site	SNP	C	C	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:57065054C>G	ENST00000301318.3	+	8	971	c.900C>G	c.(898-900)ggC>ggG	p.G300G	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATCTTTCAGGCCAGCGATCTG	0.378																																					Ovarian(124;554 1662 19430 21141 52494)	ENST00000301318.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35						c.e8-1		ZFP28 zinc finger protein							58.0	54.0	55.0					19																	57065054		2203	4300	6503	SO:0001630	splice_region_variant	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57065054C>G		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.899-1C>G	19.37:g.57065054C>G						AC007228.11_ENST00000596587.1_RNA	p.G300_splice	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	8	971	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	300					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Splice_Site	SNP	ENST00000301318.3	37	c.898_splice	CCDS12946.1																																																																																				0.378	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	Silent	8	51	0	0	0	1	0	8	51				
BAI1	575	broad.mit.edu	37	8	143558527	143558527	+	Silent	SNP	C	C	T	rs534391651		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:143558527C>T	ENST00000517894.1	+	5	2004	c.1110C>T	c.(1108-1110)tgC>tgT	p.C370C	BAI1_ENST00000323289.5_Silent_p.C370C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	370	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGCACCTGCGGCGAGGGCT	0.697													C|||	1	0.000199681	0.0	0.0	5008	,	,		15948	0.0		0.001	False		,,,				2504	0.0					ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1108-1110)tgC>tgT		brain-specific angiogenesis inhibitor 1							14.0	19.0	18.0					8																	143558527		2066	4193	6259	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558527C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1110C>T	8.37:g.143558527C>T						BAI1_ENST00000323289.5_Silent_p.C370C	p.C370C			O14514	BAI1_HUMAN			5	2004	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		370			TSP type-1 2.			Silent	SNP	ENST00000517894.1	37	c.1110C>T																																																																																					0.697	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	22	0	0	0	1	0	5	22				
ATP8B4	79895	broad.mit.edu	37	15	50158587	50158587	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr15:50158587C>T	ENST00000284509.6	-	26	3263	c.3122G>A	c.(3121-3123)aGt>aAt	p.S1041N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S1041N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1041						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GATGCCATTACTGTGCATTGT	0.403																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(3121-3123)aGt>aAt		ATPase, class I, type 8B, member 4							102.0	93.0	96.0					15																	50158587		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50158587C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3122G>A	15.37:g.50158587C>T	ENSP00000284509:p.Ser1041Asn					ATP8B4_ENST00000559829.1_Missense_Mutation_p.S1041N	p.S1041N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	26	3263	-		all_lung(180;0.00183)	1041					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.3122G>A	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875313	0.72180	.	.	ENSG00000104043	ENST00000284509	D	0.88818	-2.43	5.15	5.15	0.70609	.	0.047234	0.85682	D	0.000000	D	0.93164	0.7823	M	0.69463	2.115	0.43110	D	0.994819	D;D	0.65815	0.995;0.991	D;D	0.68621	0.959;0.91	D	0.92599	0.6089	10	0.40728	T	0.16	.	16.4737	0.84125	0.0:1.0:0.0:0.0	.	119;1041	Q6PG43;Q8TF62	.;AT8B4_HUMAN	N	1041	ENSP00000284509:S1041N	ENSP00000284509:S1041N	S	-	2	0	ATP8B4	47945879	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.004000	0.70709	2.541000	0.85698	0.591000	0.81541	AGT		0.403	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		23	68	0	0	0	1	0	23	68				
MTERF4	130916	broad.mit.edu	37	2	242039186	242039186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:242039186C>A	ENST00000391980.2	-	2	203	c.145G>T	c.(145-147)Gga>Tga	p.G49*	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		49					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGACCCCTCCATTGGAGGCT	0.512																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(145-147)Gga>Tga		MTERF domain containing 2							73.0	73.0	73.0					2																	242039186		2203	4300	6503	SO:0001587	stop_gained	130916							g.chr2:242039186C>A																												ENST00000391980.2:c.145G>T	2.37:g.242039186C>A	ENSP00000375840:p.Gly49*					MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000406593.1_Intron	p.G49*	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	203	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	49					A8K6K0|Q9P0E0	Nonsense_Mutation	SNP	ENST00000391980.2	37	c.145G>T	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387666	0.61956	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	.	.	.	4.57	-2.56	0.06268	.	1.223890	0.06050	N	0.656468	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-0.1581	0.8676	0.01207	0.1507:0.2593:0.2964:0.2935	.	.	.	.	X	49;49;49;42;49;28	.	ENSP00000241527:G49X	G	-	1	0	MTERFD2	241687859	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.725000	0.04942	-0.234000	0.09782	-0.229000	0.12294	GGA		0.512	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			8	87	1	0	0.000157383	1	0.000171154	8	87				
TLN1	7094	broad.mit.edu	37	9	35725562	35725562	+	Splice_Site	SNP	G	G	A	rs543841478		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:35725562G>A	ENST00000314888.9	-	2	483	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	TLN1_ENST00000540444.1_Splice_Site_p.P44S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	44					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGACTCACGAGGACCAGCT	0.587																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.e2+1		talin 1							109.0	104.0	106.0					9																	35725562		2203	4300	6503	SO:0001630	splice_region_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35725562G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.130+1C>T	9.37:g.35725562G>A						TLN1_ENST00000540444.1_Splice_Site_p.P44_splice	p.P44_splice	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		2	483	-	all_epithelial(49;0.167)		44					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Splice_Site	SNP	ENST00000314888.9	37	c.130_splice	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.988438	0.53934	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.70045	-0.44;-0.45	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.67202	0.2868	M	0.80616	2.505	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.11329	0.001;0.006	T	0.63598	-0.6601	9	.	.	.	-15.3147	12.6939	0.56992	0.0786:0.0:0.9214:0.0	.	44;44	Q5TCU5;Q9Y490	.;TLN1_HUMAN	S	44	ENSP00000316029:P44S;ENSP00000442981:P44S	.	P	-	1	0	TLN1	35715562	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.618000	0.54188	2.529000	0.85273	0.655000	0.94253	CCC		0.587	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	Missense_Mutation	46	91	0	0	0	1	0	46	91				
MED27	9442	broad.mit.edu	37	9	134889831	134889831	+	Silent	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:134889831T>C	ENST00000292035.5	-	3	435	c.372A>G	c.(370-372)gcA>gcG	p.A124A	MED27_ENST00000357028.2_Silent_p.A124A	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	124					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AAAGGCCAGATGCTAGTCCTG	0.423																																					Colon(41;784 923 6932 42329 52483)	ENST00000292035.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18						c.(370-372)gcA>gcG		mediator complex subunit 27							99.0	82.0	88.0					9																	134889831		2203	4300	6503	SO:0001819	synonymous_variant	9442				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity	g.chr9:134889831T>C	AF104252	CCDS6945.1, CCDS59153.1, CCDS69689.1	9q34.13	2008-02-05	2007-07-30	2007-07-30	ENSG00000160563	ENSG00000160563			2377	protein-coding gene	gene with protein product		605044	"""cofactor required for Sp1 transcriptional activation, subunit 8, 34kDa"""	CRSP8		9989412	Standard	NM_004269		Approved	TRAP37, CRSP34	uc004cbe.2	Q6P2C8	OTTHUMG00000020833	ENST00000292035.5:c.372A>G	9.37:g.134889831T>C						MED27_ENST00000357028.2_Silent_p.A86A|MED27_ENST00000372184.3_Silent_p.A124A	p.A124A	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)	3	435	-		Myeloproliferative disorder(178;0.206)	124					O95401|Q4F964|Q5VTA4|Q5VTA5|Q9BU57|Q9NYR4|V9GYV9	Silent	SNP	ENST00000292035.5	37	c.372A>G	CCDS6945.1																																																																																				0.423	MED27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054770.2	NM_004269		6	34	0	0	0	1	0	6	34				
SPDL1	54908	broad.mit.edu	37	5	169015536	169015536	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:169015536A>T	ENST00000265295.4	+	2	395	c.116A>T	c.(115-117)aAt>aTt	p.N39I	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GAATTACAGAATCAATTGGAT	0.408																																						ENST00000265295.4																			0											c.(115-117)aAt>aTt		spindle apparatus coiled-coil protein 1							112.0	108.0	109.0					5																	169015536		2203	4300	6503	SO:0001583	missense	54908							g.chr5:169015536A>T	BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.116A>T	5.37:g.169015536A>T	ENSP00000265295:p.Asn39Ile					SPDL1_ENST00000510751.1_3'UTR	p.N39I	NM_017785.4	NP_060255.3					2	395	+									Missense_Mutation	SNP	ENST00000265295.4	37	c.116A>T	CCDS4370.1	.	.	.	.	.	.	.	.	.	.	A	10.89	1.478077	0.26511	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.35973	1.28	5.6	0.438	0.16560	.	0.467809	0.25975	N	0.027110	T	0.28101	0.0693	M	0.62723	1.935	0.35262	D	0.779684	B	0.13145	0.007	B	0.15484	0.013	T	0.11767	-1.0574	10	0.48119	T	0.1	-2.5824	2.4674	0.04556	0.6029:0.1408:0.1379:0.1184	.	39	Q96EA4	SPDLY_HUMAN	I	39	ENSP00000265295:N39I	ENSP00000265295:N39I	N	+	2	0	CCDC99	168948114	1.000000	0.71417	0.183000	0.23137	0.302000	0.27658	1.468000	0.35332	-0.081000	0.12662	0.533000	0.62120	AAT		0.408	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252829.2	NM_017785		15	42	0	0	0	1	0	15	42				
FCGRT	2217	broad.mit.edu	37	19	50028719	50028719	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:50028719C>G	ENST00000221466.5	+	6	1363	c.877C>G	c.(877-879)Cca>Gca	p.P293A	FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A|FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000426395.3_Missense_Mutation_p.P293A	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	293	Connecting peptide.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TGCAGAATCTCCAGCCAAGTC	0.617																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(877-879)Cca>Gca		Fc fragment of IgG, receptor, transporter, alpha							100.0	85.0	90.0					19																	50028719		2203	4300	6503	SO:0001583	missense	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50028719C>G	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.877C>G	19.37:g.50028719C>G	ENSP00000221466:p.Pro293Ala					FCGRT_ENST00000426395.3_Missense_Mutation_p.P293A|FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A|FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A	p.P293A	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	6	1363	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	293			Connecting peptide.		Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.877C>G	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732807	0.30684	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00966	5.49;5.49	4.49	-0.113	0.13568	Immunoglobulin-like fold (1);	0.384917	0.19174	N	0.120880	T	0.01156	0.0038	M	0.70595	2.14	0.23336	N	0.997887	P	0.39282	0.666	B	0.31869	0.137	T	0.46638	-0.9177	10	0.62326	D	0.03	.	6.6034	0.22712	0.0:0.588:0.0:0.412	.	293	P55899	FCGRN_HUMAN	A	293	ENSP00000221466:P293A;ENSP00000410798:P293A	ENSP00000221466:P293A	P	+	1	0	FCGRT	54720531	0.000000	0.05858	0.091000	0.20842	0.021000	0.10359	-0.446000	0.06837	0.233000	0.21120	0.563000	0.77884	CCA		0.617	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			12	127	0	0	0	1	0	12	127				
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cellular aromatic compound metabolic process (GO:0006725)|cholesterol biosynthetic process (GO:0006695)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|squalene monooxygenase activity (GO:0004506)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353																																						ENST00000265896.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14						c.(1225-1227)Gca>Aca		squalene epoxidase	Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)						109.0	103.0	105.0					8																	126030321		1828	4076	5904	SO:0001583	missense	6713				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity	g.chr8:126030321G>A	D78130	CCDS47918.1	8q24.1	2014-06-23			ENSG00000104549	ENSG00000104549	1.14.13.132		11279	protein-coding gene	gene with protein product	"""squalene monooxygenase"""	602019				9286711	Standard	NM_003129		Approved		uc011liq.2	Q14534	OTTHUMG00000164990	ENST00000265896.5:c.1225G>A	8.37:g.126030321G>A	ENSP00000265896:p.Ala409Thr					SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	p.A409T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		8	2123	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		409					Q9UEK6	Missense_Mutation	SNP	ENST00000265896.5	37	c.1225G>A	CCDS47918.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039032	0.75617	.	.	ENSG00000104549	ENST00000523430;ENST00000265896;ENST00000541193;ENST00000518931	T;T;T	0.75050	-0.9;-0.9;-0.9	5.48	5.48	0.80851	Aromatic-ring hydroxylase-like (1);Squalene epoxidase (1);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91448	0.5179	10	0.72032	D	0.01	-14.8692	19.3542	0.94404	0.0:0.0:1.0:0.0	.	409	Q14534	ERG1_HUMAN	T	314;409;214;61	ENSP00000430331:A314T;ENSP00000265896:A409T;ENSP00000429916:A61T	ENSP00000265896:A409T	A	+	1	0	SQLE	126099503	1.000000	0.71417	0.950000	0.38849	0.012000	0.07955	9.609000	0.98334	2.575000	0.86900	0.655000	0.94253	GCA		0.353	SQLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381362.1	NM_003129		14	27	0	0	0	1	0	14	27				
COX11	1353	broad.mit.edu	37	17	53040259	53040259	+	Missense_Mutation	SNP	T	T	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:53040259T>G	ENST00000299335.3	-	4	804	c.666A>C	c.(664-666)gaA>gaC	p.E222D	COX11_ENST00000573912.1_5'Flank	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	222					hydrogen ion transmembrane transport (GO:1902600)|negative regulation of glucokinase activity (GO:0033132)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TAAGCCTTTGTTCTTCAAAAC	0.308																																						ENST00000299335.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						c.(664-666)gaA>gaC		cytochrome c oxidase assembly homolog 11 (yeast)							67.0	66.0	67.0					17																	53040259		2203	4300	6503	SO:0001583	missense	1353				respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity	g.chr17:53040259T>G	AF044321	CCDS11583.1, CCDS58579.1	17q22	2012-10-15	2012-10-15			ENSG00000166260		"""Mitochondrial respiratory chain complex assembly factors"""	2261	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit 11"", ""cytochrome c oxidase assembly protein COX11"""	603648	"""COX11 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX11 cytochrome c oxidase assembly homolog (yeast)"""			9878253	Standard	NM_004375		Approved	COX11P	uc010wng.1	Q9Y6N1		ENST00000299335.3:c.666A>C	17.37:g.53040259T>G	ENSP00000299335:p.Glu222Asp						p.E222D	NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN			4	804	-			222					D3DTY5|I3L220|Q6FHB7|Q9BRX0|Q9UME8	Missense_Mutation	SNP	ENST00000299335.3	37	c.666A>C	CCDS11583.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186095	0.78789	.	.	ENSG00000166260	ENST00000299335	T	0.55930	0.49	5.33	5.33	0.75918	Cytochrome c oxidase assembly protein CtaG/Cox11, domain (2);	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	.	.	.	0.80722	D	1	D	0.60160	0.987	D	0.72982	0.979	T	0.73895	-0.3838	9	0.52906	T	0.07	-20.8717	14.7737	0.69699	0.0:0.0:0.0:1.0	.	222	Q9Y6N1	COX11_HUMAN	D	222	ENSP00000299335:E222D	ENSP00000299335:E222D	E	-	3	2	COX11	50395258	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.524000	0.35942	2.134000	0.65973	0.528000	0.53228	GAA		0.308	COX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439182.1	NM_004375		7	63	0	0	0	1	0	7	63				
SYT9	143425	broad.mit.edu	37	11	7437324	7437324	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:7437324G>T	ENST00000318881.6	+	4	1333	c.1096G>T	c.(1096-1098)Gct>Tct	p.A366S		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	366	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCTTCCAACGGCTGGCAGGCT	0.443																																						ENST00000318881.6																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38						c.(1096-1098)Gct>Tct		synaptotagmin IX							164.0	148.0	154.0					11																	7437324		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7437324G>T	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1096G>T	11.37:g.7437324G>T	ENSP00000324419:p.Ala366Ser						p.A366S	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	4	1333	+			366			C2 2.			Missense_Mutation	SNP	ENST00000318881.6	37	c.1096G>T	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868876	0.91587	.	.	ENSG00000170743	ENST00000318881	T	0.71461	-0.57	4.85	4.85	0.62838	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.53938	D	0.000048	T	0.65595	0.2706	N	0.05534	-0.03	0.80722	D	1	P	0.38370	0.628	P	0.51487	0.671	T	0.71487	-0.4578	10	0.59425	D	0.04	.	15.8291	0.78739	0.0:0.0:1.0:0.0	.	366	Q86SS6	SYT9_HUMAN	S	366	ENSP00000324419:A366S	ENSP00000324419:A366S	A	+	1	0	SYT9	7393900	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	9.180000	0.94867	2.675000	0.91044	0.655000	0.94253	GCT		0.443	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		22	59	1	0	1.55795e-14	1	1.88252e-14	22	59				
SPTBN1	6711	broad.mit.edu	37	2	54895540	54895540	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:54895540A>G	ENST00000356805.4	+	36	7210	c.6929A>G	c.(6928-6930)aAa>aGa	p.K2310R		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2310					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCCTCTGATAAACACGAGGTG	0.592																																						ENST00000356805.4																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(6928-6930)aAa>aGa		spectrin, beta, non-erythrocytic 1							71.0	69.0	69.0					2																	54895540		2203	4300	6503	SO:0001583	missense	0				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54895540A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6929A>G	2.37:g.54895540A>G	ENSP00000349259:p.Lys2310Arg						p.K2310R	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		36	7210	+			2310					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.6929A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.655304	0.29425	.	.	ENSG00000115306	ENST00000356805	T	0.29917	1.55	5.83	4.67	0.58626	.	0.060740	0.64402	N	0.000008	T	0.21307	0.0513	N	0.19112	0.55	0.80722	D	1	B;B	0.14438	0.006;0.01	B;B	0.16289	0.015;0.005	T	0.02417	-1.1162	10	0.36615	T	0.2	.	13.2179	0.59871	0.8672:0.1328:0.0:0.0	.	300;2310	B4DIF8;Q01082	.;SPTB2_HUMAN	R	2310	ENSP00000349259:K2310R	ENSP00000349259:K2310R	K	+	2	0	SPTBN1	54749044	0.313000	0.24554	0.008000	0.14137	0.957000	0.61999	2.654000	0.46699	1.022000	0.39626	0.533000	0.62120	AAA		0.592	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			27	59	0	0	0	1	0	27	59				
BTBD9	114781	broad.mit.edu	37	6	38545497	38545497	+	Splice_Site	SNP	T	T	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:38545497T>A	ENST00000481247.1	-	6	1186		c.e6-2		BTBD9_ENST00000419706.2_Splice_Site|BTBD9_ENST00000408958.1_Splice_Site|BTBD9_ENST00000403056.1_Splice_Site|BTBD9_ENST00000314100.6_Splice_Site	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9						adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)			p.?(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GAGTAAGACCTGTGAATCAAA	0.308																																						ENST00000481247.1																			2	Unknown(2)	p.?(2)	kidney(2)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						c.e6-2		BTB (POZ) domain containing 9							72.0	66.0	68.0					6																	38545497		1843	4084	5927	SO:0001630	splice_region_variant	114781				cell adhesion			g.chr6:38545497T>A		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.1035-2A>T	6.37:g.38545497T>A						BTBD9_ENST00000314100.6_Splice_Site|BTBD9_ENST00000419706.2_Splice_Site|BTBD9_ENST00000403056.1_Splice_Site|BTBD9_ENST00000408958.1_Splice_Site		NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN			6	1186	-								Q494V9|Q494W1|Q96M00	Splice_Site	SNP	ENST00000481247.1	37		CCDS47418.1	.	.	.	.	.	.	.	.	.	.	T	19.68	3.873585	0.72180	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958	.	.	.	5.86	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6204	0.51115	0.0:0.0691:0.0:0.9309	.	.	.	.	.	-1	.	.	.	-	.	.	BTBD9	38653475	1.000000	0.71417	0.571000	0.28486	0.954000	0.61252	7.854000	0.86942	1.056000	0.40484	0.528000	0.53228	.		0.308	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733	Intron	3	40	0	0	0	1	0	3	40				
SLC22A11	55867	broad.mit.edu	37	11	64326610	64326610	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:64326610G>A	ENST00000301891.4	+	2	771	c.397G>A	c.(397-399)Gac>Aac	p.D133N	SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000490834.1_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	133					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	CTTGCAGTGGGACCTGGTGTG	0.637																																						ENST00000301891.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(397-399)Gac>Aac		solute carrier family 22 (organic anion/urate transporter), member 11	Probenecid(DB01032)						111.0	101.0	104.0					11																	64326610		2201	4297	6498	SO:0001583	missense	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64326610G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.397G>A	11.37:g.64326610G>A	ENSP00000301891:p.Asp133Asn					SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N	p.D133N	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN			2	771	+			133					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	ENST00000301891.4	37	c.397G>A	CCDS8074.1	.	.	.	.	.	.	.	.	.	.	.	16.92	3.254221	0.59212	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.80994	-1.44;-1.44;-1.44	3.48	1.5	0.22942	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056548	0.64402	N	0.000002	T	0.71986	0.3405	L	0.48642	1.525	0.34040	D	0.654865	P;P;P	0.40144	0.67;0.704;0.704	B;B;B	0.42030	0.373;0.366;0.366	T	0.70952	-0.4732	10	0.25106	T	0.35	.	7.6615	0.28407	0.2237:0.0:0.7763:0.0	.	133;133;133	Q9NSA0-2;A6NCG2;Q9NSA0	.;.;S22AB_HUMAN	N	133	ENSP00000301891:D133N;ENSP00000366809:D133N;ENSP00000366804:D133N	ENSP00000301891:D133N	D	+	1	0	SLC22A11	64083186	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	2.018000	0.40991	0.278000	0.22164	0.485000	0.47835	GAC		0.637	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484		27	76	0	0	0	1	0	27	76				
GUCY1A2	2977	broad.mit.edu	37	11	106810483	106810483	+	Silent	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:106810483C>T	ENST00000526355.2	-	4	1377	c.909G>A	c.(907-909)aaG>aaA	p.K303K	GUCY1A2_ENST00000347596.2_Silent_p.K303K|GUCY1A2_ENST00000282249.2_Silent_p.K303K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	303					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GTGGAAGGTTCTTCATGATAT	0.428																																						ENST00000526355.1																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(907-909)aaG>aaA		guanylate cyclase 1, soluble, alpha 2							82.0	80.0	80.0					11																	106810483		2201	4298	6499	SO:0001819	synonymous_variant	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106810483C>T	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.909G>A	11.37:g.106810483C>T						GUCY1A2_ENST00000347596.2_Silent_p.K303K|GUCY1A2_ENST00000282249.2_Silent_p.K303K	p.K303K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	4	1377	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)	303					A1L4C4|B7ZLT5	Silent	SNP	ENST00000526355.2	37	c.909G>A	CCDS8335.1																																																																																				0.428	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			9	35	0	0	0	1	0	9	35				
SOAT2	8435	broad.mit.edu	37	12	53509947	53509947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr12:53509947C>T	ENST00000301466.3	+	7	835	c.775C>T	c.(775-777)Cga>Tga	p.R259*		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	259					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	TCGTGCCAGACGAGGTGAGGC	0.542																																						ENST00000301466.3																			0				endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						c.(775-777)Cga>Tga		sterol O-acyltransferase 2							144.0	121.0	129.0					12																	53509947		2203	4300	6503	SO:0001587	stop_gained	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53509947C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.775C>T	12.37:g.53509947C>T	ENSP00000301466:p.Arg259*						p.R259*	NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN			7	835	+			259					F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Nonsense_Mutation	SNP	ENST00000301466.3	37	c.775C>T	CCDS8847.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674005	0.47781	.	.	ENSG00000167780	ENST00000301466	.	.	.	4.96	2.11	0.27256	.	0.542173	0.18630	N	0.135612	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.0987	2.2549	0.04052	0.1584:0.1263:0.4835:0.2318	.	.	.	.	X	259	.	ENSP00000301466:R259X	R	+	1	2	SOAT2	51796214	1.000000	0.71417	0.999000	0.59377	0.334000	0.28698	1.022000	0.30052	0.352000	0.24053	-1.897000	0.00531	CGA		0.542	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			6	60	0	0	0	1	0	6	60				
FCRLB	127943	broad.mit.edu	37	1	161697142	161697142	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:161697142C>T	ENST00000367948.2	+	8	1186	c.971C>T	c.(970-972)tCg>tTg	p.S324L	FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S324L|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.R269W|FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.R276W			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	324					negative regulation of immune response (GO:0050777)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GTGTCCAGATCGGTCCCGTTG	0.721																																						ENST00000367948.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(970-972)tCg>tTg		Fc receptor-like B							20.0	21.0	21.0					1																	161697142		2203	4298	6501	SO:0001583	missense	127943					endoplasmic reticulum		g.chr1:161697142C>T	AY670683	CCDS30927.1, CCDS72962.1, CCDS72963.1, CCDS72964.1, CCDS72965.1	1q23.3	2013-01-11	2006-09-26	2006-09-26	ENSG00000162746	ENSG00000162746		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26431	protein-coding gene	gene with protein product		609251	"""Fc receptor-like and mucin-like 2"""	FCRLM2		15676285	Standard	NM_001288829		Approved	FLJ31052, FCRL2, FREB-2, FCRLY	uc001gbi.3	Q6BAA4	OTTHUMG00000133629	ENST00000367948.2:c.971C>T	1.37:g.161697142C>T	ENSP00000356925:p.Ser324Leu					FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.R276W|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367945.1_Missense_Mutation_p.R269W|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000392158.1_Missense_Mutation_p.S324L	p.S324L			Q6BAA4	FCRLB_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00634)		8	1186	+	all_hematologic(112;0.0359)		324					A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7	Missense_Mutation	SNP	ENST00000367948.2	37	c.971C>T	CCDS30927.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.31|14.31	2.496575|2.496575	0.44352|0.44352	.|.	.|.	ENSG00000162746|ENSG00000162746	ENST00000367946;ENST00000367945|ENST00000367948;ENST00000392158	T;T|D;D	0.02301|0.96522	4.35;4.37|-4.04;-4.04	4.27|4.27	3.33|3.33	0.38152|0.38152	.|.	.|0.605970	.|0.14305	.|N	.|0.328074	D|D	0.89068|0.89068	0.6610|0.6610	L|L	0.45581|0.45581	1.43|1.43	0.19300|0.19300	N|N	0.999976|0.999976	B;B|B	0.14438|0.14805	0.01;0.01|0.011	B;B|B	0.10450|0.04013	0.003;0.005|0.001	D|D	0.83535|0.83535	0.0093|0.0093	9|10	0.66056|0.45353	D|T	0.02|0.12	.|.	8.1342|8.1342	0.31046|0.31046	0.0:0.8856:0.0:0.1144|0.0:0.8856:0.0:0.1144	.|.	269;276|324	Q6BAA4-5;Q6BAA4-4|Q6BAA4	.;.|FCRLB_HUMAN	W|L	276;269|324	ENSP00000356923:R276W;ENSP00000356922:R269W|ENSP00000356925:S324L;ENSP00000375999:S324L	ENSP00000356922:R269W|ENSP00000356925:S324L	R|S	+|+	1|2	2|0	FCRLB|FCRLB	159963766|159963766	0.616000|0.616000	0.27035|0.27035	0.505000|0.505000	0.27651|0.27651	0.853000|0.853000	0.48598|0.48598	0.659000|0.659000	0.24994|0.24994	2.195000|2.195000	0.70347|0.70347	0.455000|0.455000	0.32223|0.32223	CGG|TCG		0.721	FCRLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083585.1	NM_152378		3	58	0	0	0	1	0	3	58				
CLCN3	1182	broad.mit.edu	37	4	170625290	170625290	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr4:170625290A>T	ENST00000513761.1	+	10	2264	c.1705A>T	c.(1705-1707)Att>Ttt	p.I569F	CLCN3_ENST00000347613.4_Missense_Mutation_p.I569F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F|CLCN3_ENST00000504131.2_Missense_Mutation_p.I552F	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	569					chloride transmembrane transport (GO:1902476)|endosomal lumen acidification (GO:0048388)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|voltage-gated chloride channel activity (GO:0005247)			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGCTGATTGCATTACACCTGG	0.517																																						ENST00000513761.1																			0				breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29						c.(1705-1707)Att>Ttt		chloride channel, voltage-sensitive 3							242.0	205.0	217.0					4																	170625290		2203	4300	6503	SO:0001583	missense	0				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity	g.chr4:170625290A>T	X78520	CCDS34100.1, CCDS34101.1, CCDS58932.1, CCDS75208.1	4q	2012-09-26	2012-02-23		ENSG00000109572	ENSG00000109572		"""Ion channels / Chloride channels : Voltage-sensitive"""	2021	protein-coding gene	gene with protein product		600580	"""chloride channel 3"""				Standard	NM_001243374		Approved	CLC3, ClC-3	uc003ish.3	P51790	OTTHUMG00000160973	ENST00000513761.1:c.1705A>T	4.37:g.170625290A>T	ENSP00000424603:p.Ile569Phe					CLCN3_ENST00000347613.4_Missense_Mutation_p.I569F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F|CLCN3_ENST00000504131.2_Missense_Mutation_p.I552F	p.I569F	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)	10	2264	+		Prostate(90;0.00601)|Renal(120;0.0183)	569					B7Z932|B9EGJ9|D3DP34|E9PB97|O14918|Q86Z21	Missense_Mutation	SNP	ENST00000513761.1	37	c.1705A>T	CCDS34101.1	.	.	.	.	.	.	.	.	.	.	A	27.4	4.826594	0.90955	.	.	ENSG00000109572	ENST00000513761;ENST00000347613;ENST00000360642;ENST00000504131;ENST00000507875	D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25	5.22	5.22	0.72569	Chloride channel, core (2);	0.043100	0.85682	D	0.000000	D	0.97259	0.9104	M	0.91818	3.245	0.80722	D	1	P;D;D;D;D	0.58970	0.925;0.984;0.957;0.972;0.965	D;D;D;D;D	0.72075	0.961;0.968;0.949;0.976;0.959	D	0.98227	1.0481	10	0.87932	D	0	-5.9402	15.4441	0.75216	1.0:0.0:0.0:0.0	.	542;552;542;569;569	B7Z932;B9EGJ9;E9PE15;P51790;P51790-2	.;.;.;CLCN3_HUMAN;.	F	569;569;542;552;542	ENSP00000424603:I569F;ENSP00000261514:I569F;ENSP00000353857:I542F;ENSP00000424540:I552F;ENSP00000425323:I542F	ENSP00000261514:I569F	I	+	1	0	CLCN3	170861865	1.000000	0.71417	0.997000	0.53966	0.936000	0.57629	6.258000	0.72487	2.113000	0.64589	0.449000	0.29647	ATT		0.517	CLCN3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363210.2			4	51	0	0	0	1	0	4	51				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr21:14414902G>A	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		CCAGCTTGACGTCCTTGATGG	0.443																																						ENST00000507941.1																			0																																																			0							g.chr21:14414902G>A	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414902G>A														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.443	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	31	0	0	0	1	0	4	31				
GUSBP11	91316	broad.mit.edu	37	22	23980968	23980968	+	RNA	SNP	T	T	A	rs13056126	byFrequency	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr22:23980968T>A	ENST00000455485.1	-	0	3521				KB-1572G7.3_ENST00000390329.3_RNA|AP000347.4_ENST00000430707.2_RNA			Q6P575	BGP11_HUMAN	glucuronidase, beta pseudogene 11						carbohydrate metabolic process (GO:0005975)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GGGCGTGGTCTTCTCCACGCT	0.562													T|||	1144	0.228435	0.1838	0.1772	5008	,	,		18779	0.3363		0.1938	False		,,,				2504	0.2495					ENST00000390329.2																			0																																																			0							g.chr22:23980968T>A			22q11.23	2011-06-09			ENSG00000228315	ENSG00000228315			42325	pseudogene	pseudogene							Standard	NR_024448		Approved		uc011aiz.2	Q6P575	OTTHUMG00000150709		22.37:g.23980968T>A						AP000347.4_ENST00000430707.2_RNA								0	160	-									RNA	SNP	ENST00000455485.1	37																																																																																						0.562	GUSBP11-005	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000319697.1			4	72	0	0	0	1	0	4	72				
FAM196A	642938	broad.mit.edu	37	10	128973613	128973613	+	Silent	SNP	G	G	A	rs184333971	byFrequency	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:128973613G>A	ENST00000522781.1	-	4	1602	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	FAM196A_ENST00000424811.2_Silent_p.I349I|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	349								p.I349I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATGAGGCACGATTCGTTGGC	0.552													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18634	0.0		0.002	False		,,,				2504	0.0					ENST00000522781.1																			1	Substitution - coding silent(1)	p.I349I(1)	large_intestine(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1045-1047)atC>atT		family with sequence similarity 196, member A							146.0	152.0	150.0					10																	128973613		2203	4300	6503	SO:0001819	synonymous_variant	642938							g.chr10:128973613G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.1047C>T	10.37:g.128973613G>A						FAM196A_ENST00000424811.2_Silent_p.I349I|DOCK1_ENST00000280333.6_Intron	p.I349I	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1602	-			349					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.1047C>T	CCDS31312.1																																																																																				0.552	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		4	209	0	0	0	1	0	4	209				
TNFSF14	8740	broad.mit.edu	37	19	6670031	6670031	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:6670031G>A	ENST00000599359.1	-	2	431	c.50C>T	c.(49-51)aCc>aTc	p.T17I	TNFSF14_ENST00000326176.9_Missense_Mutation_p.T17I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	17					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TGGGATGTCGGTCTGTCCATC	0.627																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(49-51)aCc>aTc		tumor necrosis factor (ligand) superfamily, member 14							129.0	101.0	110.0					19																	6670031		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6670031G>A	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.50C>T	19.37:g.6670031G>A	ENSP00000469049:p.Thr17Ile					TNFSF14_ENST00000599359.1_Missense_Mutation_p.T17I|TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I	p.T17I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			2	431	-			17					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.50C>T	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757998	0.49468	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T;T	0.37915	1.17;1.17	5.04	3.92	0.45320	.	0.503599	0.17222	N	0.182297	T	0.48409	0.1498	M	0.65975	2.015	0.27918	N	0.938367	D;D	0.56746	0.961;0.977	P;P	0.55923	0.617;0.787	T	0.36601	-0.9741	10	0.45353	T	0.12	-11.0272	10.2186	0.43184	0.0:0.0:0.8021:0.1979	.	17;17	O43557;O43557-2	TNF14_HUMAN;.	I	17	ENSP00000245912:T17I;ENSP00000326940:T17I	ENSP00000245912:T17I	T	-	2	0	TNFSF14	6621031	0.967000	0.33354	0.853000	0.33588	0.132000	0.20833	1.854000	0.39368	2.490000	0.84030	0.563000	0.77884	ACC		0.627	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			6	127	0	0	0	1	0	6	127				
CAV3	859	broad.mit.edu	37	3	8787407	8787407	+	Missense_Mutation	SNP	G	G	C	rs199476338		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:8787407G>C	ENST00000343849.2	+	2	387	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.V104L|SSUH2_ENST00000478513.1_5'Flank	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	104	Required for interaction with DAG1.				actin filament organization (GO:0007015)|cardiac muscle cell development (GO:0055013)|caveola assembly (GO:0070836)|cell differentiation (GO:0030154)|cell growth (GO:0016049)|cholesterol homeostasis (GO:0042632)|cytoplasmic microtubule organization (GO:0031122)|endocytosis (GO:0006897)|establishment of protein localization to plasma membrane (GO:0090002)|glucose homeostasis (GO:0042593)|heart trabecula formation (GO:0060347)|membrane raft organization (GO:0031579)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of cell size (GO:0045792)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sarcomere organization (GO:0060299)|nucleus localization (GO:0051647)|plasma membrane organization (GO:0007009)|plasma membrane repair (GO:0001778)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein localization (GO:0008104)|protein localization to plasma membrane (GO:0072659)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of calcium ion import (GO:0090279)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart contraction (GO:0008016)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of nerve growth factor receptor activity (GO:0051394)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase B signaling (GO:0051896)|regulation of signal transduction by receptor internalization (GO:0038009)|regulation of skeletal muscle contraction (GO:0014819)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|T-tubule organization (GO:0033292)|triglyceride metabolic process (GO:0006641)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|dystrophin-associated glycoprotein complex (GO:0016010)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|connexin binding (GO:0071253)|ion channel binding (GO:0044325)|potassium channel inhibitor activity (GO:0019870)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein complex scaffold (GO:0032947)|sodium channel regulator activity (GO:0017080)			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CTGGGCGGTGGTGCCATGCAT	0.607																																						ENST00000343849.2																			0				breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						c.(310-312)Gtg>Ctg		caveolin 3							137.0	105.0	115.0					3																	8787407		2203	4300	6503	SO:0001583	missense	859				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity	g.chr3:8787407G>C	AF043101	CCDS2569.1	3p25	2014-09-17			ENSG00000182533	ENSG00000182533			1529	protein-coding gene	gene with protein product	"""M-caveolin"""	601253				9536092, 9537420	Standard	NM_033337		Approved	VIP-21, LGMD1C, VIP21, LQT9	uc003brb.3	P56539	OTTHUMG00000090519	ENST00000343849.2:c.310G>C	3.37:g.8787407G>C	ENSP00000341940:p.Val104Leu					CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.V104L	p.V104L	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN			2	387	+			104			Required for interaction with DAG1.		A8K777|Q3T1A4	Missense_Mutation	SNP	ENST00000343849.2	37	c.310G>C	CCDS2569.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404094	0.83230	.	.	ENSG00000182533	ENST00000343849;ENST00000397368	D;D	0.92858	-3.12;-3.12	4.79	4.79	0.61399	.	0.060431	0.64402	D	0.000003	D	0.94971	0.8373	M	0.87180	2.865	0.80722	D	1	P	0.40107	0.703	P	0.49597	0.616	D	0.94426	0.7645	10	0.36615	T	0.2	1.8431	16.5605	0.84565	0.0:0.0:1.0:0.0	.	104	P56539	CAV3_HUMAN	L	104	ENSP00000341940:V104L;ENSP00000380525:V104L	ENSP00000341940:V104L	V	+	1	0	CAV3	8762407	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.818000	0.62657	2.472000	0.83506	0.491000	0.48974	GTG		0.607	CAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207008.2	NM_033337		7	51	0	0	0	1	0	7	51				
HRH2	3274	broad.mit.edu	37	5	175110245	175110245	+	Silent	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:175110245C>A	ENST00000231683.2	+	1	1782	c.9C>A	c.(7-9)ccC>ccA	p.P3P	HRH2_ENST00000377291.2_Silent_p.P3P	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	3					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	GGATGGCACCCAATGGCACAG	0.567																																						ENST00000231683.2																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22						c.(7-9)ccC>ccA		histamine receptor H2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						165.0	157.0	160.0					5																	175110245		2203	4300	6503	SO:0001819	synonymous_variant	0				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110245C>A		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.9C>A	5.37:g.175110245C>A						HRH2_ENST00000377291.2_Silent_p.P3P	p.P3P	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1782	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	3					B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.9C>A	CCDS4395.1																																																																																				0.567	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			5	236	1	0	1	1	1	5	236				
IGHV1-46	28465	broad.mit.edu	37	14	106967145	106967145	+	RNA	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr14:106967145G>T	ENST00000390622.2	-	0	558									immunoglobulin heavy variable 1-46																		TGGTGACTCTGCCCTGGAACT	0.557																																						ENST00000390622.2																			0																				188.0	184.0	185.0					14																	106967145		2089	4229	6318			0							g.chr14:106967145G>T	X92343		14q32.33	2012-02-08			ENSG00000211962	ENSG00000211962		"""Immunoglobulins / IGH locus"""	5554	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151963		14.37:g.106967145G>T														0	558	-									RNA	SNP	ENST00000390622.2	37																																																																																						0.557	IGHV1-46-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324609.1	NG_001019		50	171	1	0	1.30409e-13	1	1.55419e-13	50	171				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			7	50	0	0	0	1	0	7	50				
MOG	4340	broad.mit.edu	37	6	29627139	29627139	+	Silent	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:29627139G>C	ENST00000376917.3	+	2	361	c.132G>C	c.(130-132)ctG>ctC	p.L44L	MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000396701.2_Silent_p.L44L|MOG_ENST00000376891.4_Silent_p.L44L|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000483013.1_Intron|MOG_ENST00000376894.4_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000376888.2_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000416766.2_Silent_p.L44L	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	44	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCCGGGCTCTGGTCGGGGATG	0.552																																						ENST00000376894.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						c.(130-132)ctG>ctC		myelin oligodendrocyte glycoprotein							208.0	226.0	220.0					6																	29627139		1511	2709	4220	SO:0001819	synonymous_variant	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627139G>C		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.132G>C	6.37:g.29627139G>C						MOG_ENST00000376917.3_Silent_p.L44L|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000483013.1_Intron|MOG_ENST00000416766.2_Silent_p.L44L|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376891.4_Silent_p.L44L|MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000376888.2_Intron|MOG_ENST00000396701.2_Silent_p.L44L	p.L44L			Q16653	MOG_HUMAN			2	250	+			44			Ig-like V-type.		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	ENST00000376917.3	37	c.132G>C	CCDS34370.1																																																																																				0.552	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		60	192	0	0	0	1	0	60	192				
ITPR3	3710	broad.mit.edu	37	6	33656197	33656197	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:33656197G>A	ENST00000374316.5	+	49	7617	c.6557G>A	c.(6556-6558)cGc>cAc	p.R2186H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2186H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2186					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GAGTGGCAGCGCAAGCTCCGC	0.622																																						ENST00000374316.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(6556-6558)cGc>cAc		inositol 1,4,5-trisphosphate receptor, type 3							44.0	35.0	38.0					6																	33656197		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33656197G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6557G>A	6.37:g.33656197G>A	ENSP00000363435:p.Arg2186His					ITPR3_ENST00000605930.1_Missense_Mutation_p.R2186H	p.R2186H			Q14573	ITPR3_HUMAN			49	7617	+			2186					Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.6557G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548664	0.86127	.	.	ENSG00000096433	ENST00000374316	D	0.91740	-2.9	5.37	4.5	0.54988	.	0.154798	0.53938	D	0.000060	D	0.86924	0.6050	L	0.46157	1.445	0.45718	D	0.99862	P;P	0.42123	0.771;0.521	P;B	0.46362	0.514;0.128	D	0.88302	0.2950	10	0.87932	D	0	-31.0845	7.2509	0.26148	0.2727:0.0:0.7273:0.0	.	2186;1856	Q14573;Q59ES2	ITPR3_HUMAN;.	H	2186	ENSP00000363435:R2186H	ENSP00000363435:R2186H	R	+	2	0	ITPR3	33764175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.500000	0.66943	2.516000	0.84829	0.655000	0.94253	CGC		0.622	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		3	30	0	0	0	1	0	3	30				
PCDHGA9	56107	broad.mit.edu	37	5	140784549	140784549	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140784549G>T	ENST00000573521.1	+	1	2030	c.2030G>T	c.(2029-2031)aGt>aTt	p.S677I	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	677	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGGGCAGTCTTCAGATC	0.592																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(2029-2031)aGt>aTt									97.0	108.0	104.0					5																	140784549		2183	4294	6477	SO:0001583	missense	0							g.chr5:140784549G>T	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2030G>T	5.37:g.140784549G>T	ENSP00000460274:p.Ser677Ile					PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	p.S677I	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2030	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.2030G>T	CCDS58981.1																																																																																				0.592	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		18	118	1	0	2.21704e-12	1	2.60651e-12	18	118				
SLC26A2	1836	broad.mit.edu	37	5	149359955	149359955	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:149359955T>A	ENST00000286298.4	+	3	1067	c.799T>A	c.(799-801)Tct>Act	p.S267T		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	267					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TATTCTTACATCTCAGGCCAA	0.473																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(799-801)Tct>Act		solute carrier family 26 (anion exchanger), member 2							197.0	183.0	187.0					5																	149359955		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149359955T>A	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.799T>A	5.37:g.149359955T>A	ENSP00000286298:p.Ser267Thr						p.S267T	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1067	+			267					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.799T>A	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	T	16.72	3.201908	0.58234	.	.	ENSG00000155850	ENST00000286298	D	0.93076	-3.16	5.12	5.12	0.69794	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96417	0.8831	M	0.85299	2.745	0.40907	D	0.984206	D	0.76494	0.999	D	0.74348	0.983	D	0.97001	0.9729	10	0.72032	D	0.01	.	11.0391	0.47820	0.0:0.0:0.1556:0.8444	.	267	P50443	S26A2_HUMAN	T	267	ENSP00000286298:S267T	ENSP00000286298:S267T	S	+	1	0	SLC26A2	149340148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.201000	0.72124	1.938000	0.56188	0.472000	0.43445	TCT		0.473	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		4	133	0	0	0	1	0	4	133				
ARHGAP31	57514	broad.mit.edu	37	3	119134256	119134256	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:119134256G>C	ENST00000264245.4	+	12	4012	c.3480G>C	c.(3478-3480)caG>caC	p.Q1160H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1160					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTTACTCCCAGGACCCCCAGG	0.532																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(3478-3480)caG>caC		Rho GTPase activating protein 31							54.0	55.0	54.0					3																	119134256		1924	4122	6046	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119134256G>C		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.3480G>C	3.37:g.119134256G>C	ENSP00000264245:p.Gln1160His						p.Q1160H	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	4012	+			1160					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.3480G>C	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.603110	0.46423	.	.	ENSG00000031081	ENST00000264245	T	0.06528	3.29	5.35	1.33	0.21861	.	0.428438	0.20736	N	0.086637	T	0.06280	0.0162	L	0.57536	1.79	0.28487	N	0.914643	B	0.10296	0.003	B	0.06405	0.002	T	0.23154	-1.0196	10	0.44086	T	0.13	.	3.3566	0.07171	0.351:0.0:0.3406:0.3084	.	1160	Q2M1Z3	RHG31_HUMAN	H	1160	ENSP00000264245:Q1160H	ENSP00000264245:Q1160H	Q	+	3	2	ARHGAP31	120616946	0.998000	0.40836	0.995000	0.50966	0.931000	0.56810	0.534000	0.23098	0.122000	0.18314	0.655000	0.94253	CAG		0.532	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			25	35	0	0	0	1	0	25	35				
TMED9	54732	broad.mit.edu	37	5	177019240	177019240	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:177019240C>A	ENST00000332598.6	+	1	82	c.25C>A	c.(25-27)Ctc>Atc	p.L9I		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	9					COPI coating of Golgi vesicle (GO:0048205)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network transport vesicle (GO:0030140)	syntaxin binding (GO:0019905)			endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCGTGCTGCTCGTCCGGCC	0.736																																						ENST00000332598.6																			0				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10						c.(25-27)Ctc>Atc		transmembrane emp24 protein transport domain containing 9							12.0	16.0	14.0					5																	177019240		2189	4287	6476	SO:0001583	missense	54732				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr5:177019240C>A	AF441399	CCDS4428.1	5q35.3	2008-02-05			ENSG00000184840	ENSG00000184840			24878	protein-coding gene	gene with protein product						12477932	Standard	NM_017510		Approved	HSGP25L2G	uc003mhx.3	Q9BVK6	OTTHUMG00000130859	ENST00000332598.6:c.25C>A	5.37:g.177019240C>A	ENSP00000330945:p.Leu9Ile						p.L9I	NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	82	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	9					Q14437|Q8WZ61	Missense_Mutation	SNP	ENST00000332598.6	37	c.25C>A	CCDS4428.1	.	.	.	.	.	.	.	.	.	.	G	1.150	-0.647077	0.03506	.	.	ENSG00000184840	ENST00000332598	T	0.14391	2.51	4.83	2.99	0.34606	.	1.560350	0.03787	N	0.262243	T	0.07234	0.0183	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	10	0.18710	T	0.47	-5.4368	3.0826	0.06267	0.086:0.1588:0.4267:0.3284	.	9	Q9BVK6	TMED9_HUMAN	I	9	ENSP00000330945:L9I	ENSP00000330945:L9I	L	+	1	0	TMED9	176951846	0.130000	0.22417	0.001000	0.08648	0.033000	0.12548	0.412000	0.21131	0.229000	0.21039	-0.371000	0.07208	CTC		0.736	TMED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253433.1	NM_017510		4	30	1	0	2.56e-06	1	2.85538e-06	4	30				
ARHGEF39	84904	broad.mit.edu	37	9	35662653	35662653	+	Silent	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:35662653A>G	ENST00000378387.3	-	7	876	c.759T>C	c.(757-759)gaT>gaC	p.D253D	ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000378395.2_Silent_p.D217D	NM_032818.2	NP_116207.2	Q8N4T4	ARG39_HUMAN	Rho guanine nucleotide exchange factor (GEF) 39	253	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of cell migration (GO:0030335)	plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)										TGAGGAGCACATCAGTGAAGA	0.647																																						ENST00000378387.3																			0											c.(757-759)gaT>gaC		Rho guanine nucleotide exchange factor (GEF) 39							29.0	28.0	28.0					9																	35662653		2203	4300	6503	SO:0001819	synonymous_variant	84904							g.chr9:35662653A>G	AK001187	CCDS6584.2	9p13.3	2012-08-08	2012-08-08	2012-08-08	ENSG00000137135	ENSG00000137135			25909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 100"""	C9orf100		22327280	Standard	XR_242516		Approved	FLJ14642	uc003zxm.1	Q8N4T4	OTTHUMG00000019869	ENST00000378387.3:c.759T>C	9.37:g.35662653A>G						ARHGEF39_ENST00000378395.2_Silent_p.D217D|ARHGEF39_ENST00000490970.1_5'UTR|ARHGEF39_ENST00000343259.3_Intron	p.D253D	NM_032818.2	NP_116207.2					7	876	-								Q49AG0|Q6TPQ2|Q96ST6	Silent	SNP	ENST00000378387.3	37	c.759T>C	CCDS6584.2																																																																																				0.647	ARHGEF39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052330.1	NM_032818		5	17	0	0	0	1	0	5	17				
SPTA1	6708	broad.mit.edu	37	1	158605702	158605702	+	Splice_Site	SNP	C	C	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:158605702C>A	ENST00000368147.4	-	38	5613		c.e38+1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCCACTCACCGGGCCTTGG	0.537																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.e38+1		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							73.0	76.0	75.0					1																	158605702		1924	4141	6065	SO:0001630	splice_region_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158605702C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5432+1G>T	1.37:g.158605702C>A						SPTA1_ENST00000368147.3_Splice_Site		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			38	5613	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Splice_Site	SNP	ENST00000368147.4	37		CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815614	0.90790	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4695	0.90767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SPTA1	156872326	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.106000	0.77039	2.941000	0.99782	0.655000	0.94253	.		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	Intron	4	115	1	0	0.00116845	1	0.001255	4	115				
PCSK5	5125	broad.mit.edu	37	9	78790136	78790136	+	Intron	SNP	T	T	C	rs62556589		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:78790136T>C	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.M664T	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1990-1992)aTg>aCg		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790136T>C		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+91T>C	9.37:g.78790136T>C						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.M664T			Q92824	PCSK5_HUMAN			14	2503	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.1991T>C	CCDS55320.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.632416	0.00806	.	.	ENSG00000099139	ENST00000376767;ENST00000396108	T	0.72282	-0.64	.	.	.	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.30001	-0.9993	6	0.24483	T	0.36	.	.	.	.	rs62556589	664	B1AMG5	.	T	664	ENSP00000365958:M664T	ENSP00000365958:M664T	M	+	2	0	PCSK5	77979956	0.008000	0.16893	0.036000	0.18154	0.039000	0.13416	-0.019000	0.12546	0.228000	0.21019	0.225000	0.17782	ATG		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	23	0	0	0	1	0	4	23				
USP32	84669	broad.mit.edu	37	17	58300782	58300782	+	Missense_Mutation	SNP	T	T	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:58300782T>G	ENST00000300896.4	-	14	1792	c.1598A>C	c.(1597-1599)gAa>gCa	p.E533A	USP32_ENST00000592339.1_Missense_Mutation_p.E203A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	533	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTTACTGGTTCTTGAGTTAC	0.338																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(1597-1599)gAa>gCa		ubiquitin specific peptidase 32							90.0	88.0	89.0					17																	58300782		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58300782T>G	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.1598A>C	17.37:g.58300782T>G	ENSP00000300896:p.Glu533Ala					USP32_ENST00000592339.1_Missense_Mutation_p.E203A	p.E533A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		14	1792	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		533			DUSP.		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.1598A>C	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667123	0.47677	.	.	ENSG00000170832	ENST00000300896	T	0.44881	0.91	4.53	4.53	0.55603	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.105912	0.64402	D	0.000005	T	0.33147	0.0853	L	0.35288	1.05	0.80722	D	1	B	0.26195	0.144	B	0.31191	0.125	T	0.08868	-1.0701	10	0.16420	T	0.52	.	13.9012	0.63804	0.0:0.0:0.0:1.0	.	533	Q8NFA0	UBP32_HUMAN	A	533	ENSP00000300896:E533A	ENSP00000300896:E533A	E	-	2	0	USP32	55655564	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.617000	0.83032	1.680000	0.50976	0.372000	0.22366	GAA		0.338	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		15	30	0	0	0	1	0	15	30				
IRF3	3661	broad.mit.edu	37	19	50165379	50165379	+	Missense_Mutation	SNP	C	C	A	rs142339594		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:50165379C>A	ENST00000597198.1	-	6	1189	c.808G>T	c.(808-810)Ggg>Tgg	p.G270W	IRF3_ENST00000593922.1_Missense_Mutation_p.G124W|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.G270W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599680.1_5'Flank|IRF3_ENST00000600911.1_Missense_Mutation_p.G270W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000599144.1_Missense_Mutation_p.G124W|IRF3_ENST00000377139.3_Missense_Mutation_p.G270W|IRF3_ENST00000601291.1_Missense_Mutation_p.G270W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000598808.1_Missense_Mutation_p.G124W|IRF3_ENST00000596822.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	270	Involved in HERC5 binding.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GCCAGTCCCCCACCCAGGCAG	0.667																																						ENST00000597198.1																			0				breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10						c.(808-810)Ggg>Tgg		interferon regulatory factor 3			TRP/GLY,TRP/GLY,,TRP/GLY,TRP/GLY,,,TRP/GLY	0,4406		0,0,2203	38.0	38.0	38.0		808,703,,370,370,,,808	0.1	0.0	19	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense,missense,intron,intron,missense	IRF3	NM_001197122.1,NM_001197123.1,NM_001197124.1,NM_001197125.1,NM_001197126.1,NM_001197127.1,NM_001197128.1,NM_001571.5	184,184,,184,184,,,184	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,,probably-damaging,probably-damaging,,,probably-damaging	270/453,235/393,,124/282,124/282,,,270/428	50165379	1,13005	2203	4300	6503	SO:0001583	missense	3661				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr19:50165379C>A		CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.808G>T	19.37:g.50165379C>A	ENSP00000469113:p.Gly270Trp					IRF3_ENST00000598808.1_Missense_Mutation_p.G124W|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000377139.3_Missense_Mutation_p.G270W|IRF3_ENST00000599144.1_Missense_Mutation_p.G124W|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000600911.1_Missense_Mutation_p.G270W|IRF3_ENST00000601291.1_Missense_Mutation_p.G270W|IRF3_ENST00000593922.1_Missense_Mutation_p.G124W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000309877.7_Missense_Mutation_p.G270W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377135.4_Intron	p.G270W			Q14653	IRF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)	6	1189	-		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	270			Involved in HERC5 binding.		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	ENST00000597198.1	37	c.808G>T	CCDS12775.1	.	.	.	.	.	.	.	.	.	.	c	15.49	2.847985	0.51164	0.0	1.16E-4	ENSG00000126456	ENST00000377139;ENST00000309877	D;D	0.95035	-3.59;-3.59	4.72	0.0506	0.14294	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.822791	0.10800	N	0.632829	D	0.95655	0.8587	M	0.69823	2.125	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.989;0.997;0.997;0.987	D	0.87047	0.2144	10	0.66056	D	0.02	-14.2111	4.0105	0.09621	0.0:0.4228:0.1754:0.4018	.	270;270;270;270	B2RAZ3;Q96GL3;Q7Z5G6;Q14653	.;.;.;IRF3_HUMAN	W	270	ENSP00000366344:G270W;ENSP00000310127:G270W	ENSP00000310127:G270W	G	-	1	0	IRF3	54857191	0.000000	0.05858	0.001000	0.08648	0.255000	0.26057	-0.362000	0.07602	-0.037000	0.13646	0.550000	0.68814	GGG		0.667	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465962.1	NM_001571		4	54	1	0	1	1	1	4	54				
ZNF813	126017	broad.mit.edu	37	19	53993793	53993793	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:53993793G>C	ENST00000396403.4	+	4	435	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E103K(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCAGTGGCAAGAAGATGAAAG	0.403																																						ENST00000396403.4																			1	Substitution - Missense(1)	p.E103K(1)	soft_tissue(1)	large_intestine(1)	1						c.(307-309)Gaa>Caa		zinc finger protein 813							109.0	115.0	113.0					19																	53993793		2201	4300	6501	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53993793G>C	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.307G>C	19.37:g.53993793G>C	ENSP00000379684:p.Glu103Gln					ZNF813_ENST00000396421.4_Intron	p.E103Q	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	435	+			103						Missense_Mutation	SNP	ENST00000396403.4	37	c.307G>C	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521363	0.27211	.	.	ENSG00000198346	ENST00000468450;ENST00000396403;ENST00000490956	T;T;T	0.06068	4.01;3.35;5.03	0.467	-0.934	0.10428	.	.	.	.	.	T	0.11922	0.0290	L	0.59436	1.845	0.09310	N	1	D	0.58620	0.983	P	0.58454	0.839	T	0.22277	-1.0221	9	0.21014	T	0.42	.	5.6469	0.17594	0.0:0.3413:0.6586:0.0	.	103	Q6ZN06	ZN813_HUMAN	Q	50;103;134	ENSP00000419821:E50Q;ENSP00000379684:E103Q;ENSP00000418289:E134Q	ENSP00000379684:E103Q	E	+	1	0	ZNF813	58685605	0.006000	0.16342	0.032000	0.17829	0.299000	0.27559	0.965000	0.29319	-0.622000	0.05626	0.205000	0.17691	GAA		0.403	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		37	103	0	0	0	1	0	37	103				
INSL6	11172	broad.mit.edu	37	9	5185354	5185354	+	Silent	SNP	C	C	T	rs146054352		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:5185354C>T	ENST00000381641.3	-	1	314	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	83					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAGCGGTTTGCGGGCTTTCGA	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		16405	0.001		0.0	False		,,,				2504	0.0					ENST00000381641.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15						c.(247-249)ccG>ccA		insulin-like 6							114.0	124.0	121.0					9																	5185354		2203	4300	6503	SO:0001819	synonymous_variant	11172					extracellular region	hormone activity	g.chr9:5185354C>T	AF156094	CCDS6458.1	9p24	2008-07-21			ENSG00000120210	ENSG00000120210			6089	protein-coding gene	gene with protein product	"""relaxin/insulin-like factor 1"""	606414				10819760	Standard	NM_007179		Approved	RIF1	uc003zix.3	Q9Y581	OTTHUMG00000019489	ENST00000381641.3:c.249G>A	9.37:g.5185354C>T							p.P83P	NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)	1	314	-	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)	83					A0AVS0|Q9NS16	Silent	SNP	ENST00000381641.3	37	c.249G>A	CCDS6458.1																																																																																				0.527	INSL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051608.3	NM_007179		14	181	0	0	0	1	0	14	181				
NKTR	4820	broad.mit.edu	37	3	42684054	42684054	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:42684054C>T	ENST00000232978.8	+	14	4296	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	1370					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACCAGAAGCCGGAGCAGTTC	0.438																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(4108-4110)Cgg>Tgg		natural killer-tumor recognition sequence							104.0	100.0	101.0					3																	42684054		2203	4300	6503	SO:0001583	missense	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42684054C>T		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.4108C>T	3.37:g.42684054C>T	ENSP00000232978:p.Arg1370Trp					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	p.R1370W	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	14	4296	+			1370						Missense_Mutation	SNP	ENST00000232978.8	37	c.4108C>T	CCDS2702.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414799	0.62511	.	.	ENSG00000114857	ENST00000232978	T	0.34859	1.34	5.49	4.61	0.57282	.	0.060947	0.64402	D	0.000002	T	0.59985	0.2234	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.985	T	0.65360	-0.6187	10	0.87932	D	0	-3.0641	15.6414	0.77006	0.1385:0.8615:0.0:0.0	.	1070;1370	Q6M1B8;P30414	.;NKTR_HUMAN	W	1370	ENSP00000232978:R1370W	ENSP00000232978:R1370W	R	+	1	2	NKTR	42659058	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.147000	0.77382	1.291000	0.44653	-0.182000	0.12963	CGG		0.438	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		5	76	0	0	0	1	0	5	76				
CDCA2	157313	broad.mit.edu	37	8	25341516	25341516	+	Silent	SNP	A	A	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341516A>C	ENST00000330560.3	+	10	1632	c.1155A>C	c.(1153-1155)ctA>ctC	p.L385L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.L370L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	385					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTGCCTTTCTAAATATGAGGA	0.338																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1153-1155)ctA>ctC		cell division cycle associated 2							45.0	48.0	47.0					8																	25341516		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25341516A>C	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1155A>C	8.37:g.25341516A>C						CDCA2_ENST00000380665.3_Silent_p.L370L|CDCA2_ENST00000521098.2_3'UTR	p.L385L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	10	1632	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	385					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.1155A>C	CCDS6049.1																																																																																				0.338	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		12	32	0	0	0	1	0	12	32				
INTS3	65123	broad.mit.edu	37	1	153732836	153732836	+	Silent	SNP	C	C	A	rs373150550		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:153732836C>A	ENST00000318967.2	+	12	1855	c.1287C>A	c.(1285-1287)atC>atA	p.I429I	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Silent_p.I223I|INTS3_ENST00000435409.2_Silent_p.I429I|INTS3_ENST00000456435.1_Silent_p.I223I	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	430					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCAGCCATCACTGCCACAC	0.522																																						ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(667-669)atC>atA		integrator complex subunit 3							125.0	87.0	100.0					1																	153732836		2203	4300	6503	SO:0001819	synonymous_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153732836C>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1287C>A	1.37:g.153732836C>A						INTS3_ENST00000512605.1_Silent_p.I223I|INTS3_ENST00000318967.2_Silent_p.I429I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.I429I	p.I223I			Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		12	1855	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		430					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.669C>A	CCDS1052.1																																																																																				0.522	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		5	54	1	0	1	1	1	5	54				
UPP1	7378	broad.mit.edu	37	7	48146608	48146608	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr7:48146608T>C	ENST00000331803.4	+	8	1198	c.575T>C	c.(574-576)cTg>cCg	p.L192P	UPP1_ENST00000429491.2_Missense_Mutation_p.L55P|UPP1_ENST00000341253.4_Missense_Mutation_p.L192P|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000395564.4_Missense_Mutation_p.L192P			Q16831	UPP1_HUMAN	uridine phosphorylase 1	192					cellular response to glucose starvation (GO:0042149)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)	uridine phosphorylase activity (GO:0004850)			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18					Fluorouracil(DB00544)	GAGCTGTTGCTGTGTTCTGCA	0.542																																						ENST00000331803.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(574-576)cTg>cCg		uridine phosphorylase 1							126.0	115.0	119.0					7																	48146608		2203	4300	6503	SO:0001583	missense	7378				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	g.chr7:48146608T>C	AK096167	CCDS5507.1	7p12.3	2012-10-02	2003-08-28	2003-08-29	ENSG00000183696	ENSG00000183696	2.4.2.3		12576	protein-coding gene	gene with protein product		191730	"""uridine phosphorylase"""	UP		752472, 11807789	Standard	NM_003364		Approved	UPASE, UPP, UDRPASE	uc003toj.3	Q16831	OTTHUMG00000129253	ENST00000331803.4:c.575T>C	7.37:g.48146608T>C	ENSP00000330032:p.Leu192Pro					UPP1_ENST00000395564.4_Missense_Mutation_p.L192P|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.L55P|UPP1_ENST00000341253.4_Missense_Mutation_p.L192P	p.L192P			Q16831	UPP1_HUMAN			8	1198	+			192					D3DVM4|Q15362	Missense_Mutation	SNP	ENST00000331803.4	37	c.575T>C	CCDS5507.1	.	.	.	.	.	.	.	.	.	.	T	8.267	0.812410	0.16537	.	.	ENSG00000183696	ENST00000331803;ENST00000341253;ENST00000395564;ENST00000429491	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.9	-6.21	0.02065	Nucleoside phosphorylase domain (1);	0.577096	0.19866	N	0.104306	T	0.71409	0.3336	N	0.14661	0.345	0.09310	N	0.999994	B;B	0.24618	0.107;0.107	B;B	0.38020	0.263;0.263	T	0.61926	-0.6962	10	0.45353	T	0.12	-5.2689	1.6695	0.02808	0.4315:0.1011:0.2794:0.188	.	55;192	Q86Y75;Q16831	.;UPP1_HUMAN	P	192;192;192;55	ENSP00000330032:L192P;ENSP00000342878:L192P;ENSP00000378931:L192P;ENSP00000406224:L55P	ENSP00000330032:L192P	L	+	2	0	UPP1	48113133	0.691000	0.27709	0.001000	0.08648	0.224000	0.24922	1.292000	0.33342	-0.765000	0.04645	-0.347000	0.07816	CTG		0.542	UPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251360.1	NM_003364		19	75	0	0	0	1	0	19	75				
BARD1	580	broad.mit.edu	37	2	215645757	215645757	+	Missense_Mutation	SNP	G	G	A	rs200059956		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:215645757G>A	ENST00000260947.4	-	4	975	c.841C>T	c.(841-843)Cca>Tca	p.P281S	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.P137S	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	281					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA 3'-end processing (GO:0031441)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein catabolic process (GO:0045732)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of phosphorylation (GO:0042325)|tissue homeostasis (GO:0001894)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	kinase binding (GO:0019900)|ligase activity (GO:0016874)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAGCCAATGGTAAAGAGACT	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000260947.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(841-843)Cca>Tca		BRCA1 associated RING domain 1							64.0	66.0	65.0					2																	215645757		2203	4298	6501	SO:0001583	missense	580	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:215645757G>A		CCDS2397.1, CCDS74645.1, CCDS74646.1, CCDS74647.1, CCDS74648.1	2q34-q35	2013-01-10			ENSG00000138376	ENSG00000138376		"""Ankyrin repeat domain containing"""	952	protein-coding gene	gene with protein product		601593				8944023, 9425226, 15159397	Standard	NM_001282548		Approved		uc002veu.2	Q99728	OTTHUMG00000133016	ENST00000260947.4:c.841C>T	2.37:g.215645757G>A	ENSP00000260947:p.Pro281Ser					BARD1_ENST00000449967.2_Missense_Mutation_p.P137S|BARD1_ENST00000471787.1_5'UTR	p.P281S	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	4	975	-		Renal(323;0.0243)	281					F6MDH7|F6MDH8|F6MDH9|O43574|Q53SS5	Missense_Mutation	SNP	ENST00000260947.4	37	c.841C>T	CCDS2397.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488124	0.44249	.	.	ENSG00000138376	ENST00000260947;ENST00000449967	T;T	0.72394	-0.65;0.03	5.62	4.72	0.59763	.	0.258113	0.32273	N	0.006330	T	0.58409	0.2120	M	0.67953	2.075	0.09310	N	1	P;P	0.39480	0.675;0.506	B;B	0.28553	0.091;0.051	T	0.56974	-0.7890	10	0.06625	T	0.88	-6.9067	12.3432	0.55105	0.1323:0.0:0.8677:0.0	.	137;281	E7EUI3;Q99728	.;BARD1_HUMAN	S	281;137	ENSP00000260947:P281S;ENSP00000406752:P137S	ENSP00000260947:P281S	P	-	1	0	BARD1	215354002	0.992000	0.36948	0.945000	0.38365	0.928000	0.56348	2.883000	0.48554	2.795000	0.96236	0.655000	0.94253	CCA		0.383	BARD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256602.1	NM_000465		20	45	0	0	0	1	0	20	45				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	58	0	0	0	1	0	3	58				
PCDHB6	56130	broad.mit.edu	37	5	140531641	140531641	+	Silent	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140531641G>A	ENST00000231136.1	+	1	1803	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	PCDHB6_ENST00000543635.1_Silent_p.S465S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	601	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.716																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(1801-1803)tcG>tcA									13.0	17.0	16.0					5																	140531641		1880	3874	5754	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531641G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1803G>A	5.37:g.140531641G>A						PCDHB6_ENST00000543635.1_Silent_p.S465S	p.S601S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1803	+			601			Cadherin 6.		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1803G>A	CCDS4248.1																																																																																				0.716	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		23	75	0	0	0	1	0	23	75				
CHD4	1108	broad.mit.edu	37	12	6703665	6703665	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr12:6703665G>A	ENST00000357008.2	-	15	2436	c.2273C>T	c.(2272-2274)aCt>aTt	p.T758I	CHD4_ENST00000544040.1_Missense_Mutation_p.T751I|CHD4_ENST00000544484.1_Missense_Mutation_p.T755I|CHD4_ENST00000309577.6_Missense_Mutation_p.T758I	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	758	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TGTCTGTACAGTTTTCCCAAG	0.493																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(2272-2274)aCt>aTt		chromodomain helicase DNA binding protein 4							129.0	122.0	125.0					12																	6703665		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6703665G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2273C>T	12.37:g.6703665G>A	ENSP00000349508:p.Thr758Ile					CHD4_ENST00000544484.1_Missense_Mutation_p.T755I|CHD4_ENST00000357008.2_Missense_Mutation_p.T758I|CHD4_ENST00000544040.1_Missense_Mutation_p.T751I	p.T758I			Q14839	CHD4_HUMAN			15	2436	-			758			Helicase ATP-binding.		Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.2273C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043151	0.93685	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.99298	-5.71;-5.71;-5.71;-5.71	5.17	5.17	0.71159	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	H	0.99634	4.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.997;1.0;0.994	D	0.96738	0.9544	10	0.87932	D	0	.	18.8674	0.92298	0.0:0.0:1.0:0.0	.	758;758;751	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	I	755;751;758;758;732	ENSP00000440392:T755I;ENSP00000440542:T751I;ENSP00000312419:T758I;ENSP00000349508:T758I	ENSP00000312419:T758I	T	-	2	0	CHD4	6573926	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	9.623000	0.98386	2.686000	0.91538	0.591000	0.81541	ACT		0.493	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		26	62	0	0	0	1	0	26	62				
MSRB1	51734	broad.mit.edu	37	16	1990838	1990838	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:1990838G>T	ENST00000361871.3	-	3	429	c.260C>A	c.(259-261)cCc>cAc	p.P87H	MSRB1_ENST00000564908.1_Silent_p.P133P|MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000399753.2_Silent_p.P208P	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1	87					actin filament polymerization (GO:0030041)|innate immune response (GO:0045087)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|methionine-R-sulfoxide reductase activity (GO:0070191)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)									L-Methionine(DB00134)	CCCCGGCTTGGGGCCGTCGTT	0.577																																						ENST00000361871.3																			0											c.(259-261)cCc>cAc		methionine sulfoxide reductase B1	L-Methionine(DB00134)						43.0	45.0	44.0					16																	1990838		1930	4135	6065	SO:0001583	missense	51734				protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding	g.chr16:1990838G>T	AF166124	CCDS42100.1	16p13.3	2012-05-22	2012-03-01	2012-03-01	ENSG00000198736	ENSG00000198736			14133	protein-coding gene	gene with protein product		606216	"""selenoprotein X, 1"""	SEPX1		10608886, 20634897	Standard	NM_016332		Approved	SelR, SepR, SelX	uc021tam.1	Q9NZV6	OTTHUMG00000129143	ENST00000361871.3:c.260C>A	16.37:g.1990838G>T	ENSP00000355084:p.Pro87His					MSRB1_ENST00000564908.1_Silent_p.P133P|MSRB1_ENST00000399753.2_Silent_p.P208P	p.P87H	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN			3	429	-			87					Q96RX6|Q9BTV2|Q9P0B1	Missense_Mutation	SNP	ENST00000361871.3	37	c.260C>A	CCDS42100.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076825	0.55753	.	.	ENSG00000198736	ENST00000361871	T	0.78707	-1.2	4.61	3.64	0.41730	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.000000	0.85682	D	0.000000	D	0.91081	0.7193	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92245	0.5804	10	0.87932	D	0	.	11.2958	0.49277	0.0908:0.0:0.9092:0.0	.	87	Q9NZV6	MSRB1_HUMAN	H	87	ENSP00000355084:P87H	ENSP00000355084:P87H	P	-	2	0	SEPX1	1930839	1.000000	0.71417	0.993000	0.49108	0.191000	0.23601	7.326000	0.79133	0.916000	0.36871	0.650000	0.86243	CCC		0.577	MSRB1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000251203.1	NM_016332		6	72	1	0	4.096e-09	1	4.75136e-09	6	72				
SNAPC1	6617	broad.mit.edu	37	14	62233593	62233593	+	Splice_Site	SNP	G	G	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr14:62233593G>T	ENST00000216294.4	+	2	232		c.e2-1		RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CTGTTTATTAGTGGCAGAATG	0.308																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.e2-1		small nuclear RNA activating complex, polypeptide 1, 43kDa							63.0	65.0	65.0					14																	62233593		2203	4298	6501	SO:0001630	splice_region_variant	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62233593G>T	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.129-1G>T	14.37:g.62233593G>T						RP11-618G20.1_ENST00000555937.1_RNA		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	2	232	+									Splice_Site	SNP	ENST00000216294.4	37		CCDS9755.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.784438	0.49997	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3242	0.98691	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNAPC1	61303346	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	8.078000	0.89507	2.882000	0.98803	0.655000	0.94253	.		0.308	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082	Intron	8	14	1	0	5.18039e-06	1	5.70499e-06	8	14				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'Flank	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		3	36	0	0	0	1	0	3	36				
ZNF281	23528	broad.mit.edu	37	1	200376772	200376772	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376772G>C	ENST00000294740.3	-	2	2186	c.2062C>G	c.(2062-2064)Cac>Gac	p.H688D	ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D|ZNF281_ENST00000367353.1_Missense_Mutation_p.H688D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	688					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGGAAACCGTGTCCAAGAGTA	0.393																																						ENST00000294740.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2062-2064)Cac>Gac		zinc finger protein 281							133.0	146.0	141.0					1																	200376772		2203	4300	6503	SO:0001583	missense	23528				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr1:200376772G>C	AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.2062C>G	1.37:g.200376772G>C	ENSP00000294740:p.His688Asp					ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D|ZNF281_ENST00000367353.1_Missense_Mutation_p.H688D	p.H688D	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN			2	2186	-			688					A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	c.2062C>G	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.654816	0.29425	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.39229	1.09;1.09;1.09	5.54	5.54	0.83059	.	0.114504	0.64402	D	0.000007	T	0.28995	0.0720	N	0.08118	0	0.42869	D	0.994133	B;B	0.16166	0.016;0.016	B;B	0.15484	0.013;0.013	T	0.08597	-1.0714	10	0.52906	T	0.07	-3.3781	19.4807	0.95008	0.0:0.0:1.0:0.0	.	652;688	A6NF48;Q9Y2X9	.;ZN281_HUMAN	D	688;688;652;393	ENSP00000294740:H688D;ENSP00000356322:H688D;ENSP00000356321:H652D	ENSP00000294740:H688D	H	-	1	0	ZNF281	198643395	1.000000	0.71417	0.787000	0.31911	0.875000	0.50365	9.183000	0.94887	2.597000	0.87782	0.655000	0.94253	CAC		0.393	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482		7	163	0	0	0	1	0	7	163				
DSC3	1825	broad.mit.edu	37	18	28576863	28576863	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr18:28576863C>T	ENST00000360428.4	-	15	2467	c.2387G>A	c.(2386-2388)gGg>gAg	p.G796E	DSC3_ENST00000434452.1_Missense_Mutation_p.G796E	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	796					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGATGATGCCCAGCCCCCCG	0.517																																						ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2386-2388)gGg>gAg		desmocollin 3							102.0	85.0	90.0					18																	28576863		2203	4300	6503	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28576863C>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2387G>A	18.37:g.28576863C>T	ENSP00000353608:p.Gly796Glu					DSC3_ENST00000360428.4_Missense_Mutation_p.G796E	p.G796E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		15	2541	-			796					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2387G>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	C	7.671	0.686961	0.14973	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.76316	-1.01;0.39	4.51	3.63	0.41609	Cadherin, cytoplasmic domain (1);	0.000000	0.33346	N	0.005013	D	0.87107	0.6095	M	0.84219	2.685	0.43172	D	0.99497	D;D	0.69078	0.997;0.996	D;D	0.74348	0.942;0.983	D	0.87358	0.2342	10	0.42905	T	0.14	.	12.6117	0.56554	0.1662:0.8338:0.0:0.0	.	796;796	Q14574;Q14574-2	DSC3_HUMAN;.	E	796	ENSP00000353608:G796E;ENSP00000392068:G796E	ENSP00000353608:G796E	G	-	2	0	DSC3	26830861	0.846000	0.29590	0.149000	0.22428	0.486000	0.33341	2.524000	0.45589	1.222000	0.43521	0.563000	0.77884	GGG		0.517	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		12	37	0	0	0	1	0	12	37				
EIF2S3	1968	broad.mit.edu	37	X	24075812	24075812	+	Silent	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chrX:24075812T>C	ENST00000253039.4	+	4	577	c.324T>C	c.(322-324)agT>agC	p.S108S		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	108	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTGGGAGCAGTACACCTGACG	0.373																																						ENST00000253039.4																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.(322-324)agT>agC		eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa							67.0	65.0	66.0					X																	24075812		2203	4300	6503	SO:0001819	synonymous_variant	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24075812T>C	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.324T>C	X.37:g.24075812T>C							p.S108S	NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN			4	577	+			108					B5BTZ4	Silent	SNP	ENST00000253039.4	37	c.324T>C	CCDS14210.1	.	.	.	.	.	.	.	.	.	.	T	10.46	1.357210	0.24598	.	.	ENSG00000130741	ENST00000423068	.	.	.	5.03	-3.98	0.04082	.	.	.	.	.	T	0.64940	0.2644	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65005	-0.6273	4	.	.	.	.	15.107	0.72329	0.0:0.6181:0.0:0.3819	.	.	.	.	H	108	.	.	Y	+	1	0	EIF2S3	23985733	0.989000	0.36119	0.565000	0.28409	0.932000	0.56968	0.266000	0.18534	-0.736000	0.04831	0.417000	0.27973	TAC		0.373	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415		4	33	0	0	0	1	0	4	33				
SPOP	8405	broad.mit.edu	37	17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:47696425A>C	ENST00000393328.2	-	6	763	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)																												ENST00000393331.3																			5	Substitution - Missense(5)	p.F133C(3)|p.F133S(2)	prostate(5)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)tTc>tGc		speckle-type POZ protein							119.0	120.0	120.0					17																	47696425		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696425A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.398T>G	17.37:g.47696425A>C	ENSP00000377001:p.Phe133Cys	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C	p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	868	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.398T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055575	0.75960	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67321	-0.5700	10	0.54805	T	0.06	-9.6576	15.258	0.73599	1.0:0.0:0.0:0.0	.	133	O43791	SPOP_HUMAN	C	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133C;ENSP00000377004:F133C;ENSP00000240327:F133C;ENSP00000425905:F133C;ENSP00000420908:F133C;ENSP00000426986:F133C;ENSP00000420960:F133C;ENSP00000426262:F133C;ENSP00000424119:F133C	ENSP00000240327:F133C	F	-	2	0	SPOP	45051424	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.131000	0.94446	2.261000	0.74972	0.460000	0.39030	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		29	126	0	0	0	1	0	29	126				
SPICE1	152185	broad.mit.edu	37	3	113172713	113172713	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:113172713T>C	ENST00000295872.4	-	14	2001	c.1742A>G	c.(1741-1743)gAg>gGg	p.E581G		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	581					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						TAAGGTCTTCTCTTCCCAATT	0.403																																						ENST00000295872.4																			0				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1741-1743)gAg>gGg		spindle and centriole associated protein 1							92.0	96.0	95.0					3																	113172713		2203	4300	6503	SO:0001583	missense	152185				cell division|mitosis	centriole|spindle	protein binding	g.chr3:113172713T>C	AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.1742A>G	3.37:g.113172713T>C	ENSP00000295872:p.Glu581Gly						p.E581G	NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN			14	2001	-			581					D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	c.1742A>G	CCDS2973.1	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022268	0.35701	.	.	ENSG00000163611	ENST00000295872	T	0.35789	1.29	5.53	3.17	0.36434	.	1.062460	0.07146	N	0.848312	T	0.25680	0.0625	N	0.19112	0.55	0.32950	D	0.519599	B;B	0.22146	0.065;0.027	B;B	0.19391	0.025;0.025	T	0.27226	-1.0080	10	0.59425	D	0.04	-1.4547	6.9526	0.24554	0.0:0.1809:0.0:0.8191	.	477;581	B3KX77;Q8N0Z3	.;SPICE_HUMAN	G	581	ENSP00000295872:E581G	ENSP00000295872:E581G	E	-	2	0	SPICE1	114655403	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	1.189000	0.32114	0.403000	0.25479	0.460000	0.39030	GAG		0.403	SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718		4	88	0	0	0	1	0	4	88				
NLRP13	126204	broad.mit.edu	37	19	56424212	56424212	+	Missense_Mutation	SNP	T	T	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:56424212T>G	ENST00000342929.3	-	5	970	c.971A>C	c.(970-972)gAg>gCg	p.E324A	NLRP13_ENST00000588751.1_Missense_Mutation_p.E324A	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	324	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCCAAGCTCTCAGAGCGTGA	0.458																																						ENST00000588751.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109						c.(970-972)gAg>gCg		NLR family, pyrin domain containing 13							85.0	84.0	84.0					19																	56424212		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424212T>G	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.971A>C	19.37:g.56424212T>G	ENSP00000343891:p.Glu324Ala					NLRP13_ENST00000342929.3_Missense_Mutation_p.E324A	p.E324A			Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	995	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	324			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.971A>C	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	T	4.252	0.045798	0.08196	.	.	ENSG00000173572	ENST00000342929	T	0.74842	-0.88	1.55	1.55	0.23275	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.49474	0.1559	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.19946	0.027	T	0.33624	-0.9861	9	0.20046	T	0.44	.	5.4469	0.16539	0.0:0.0:0.0:1.0	.	324	Q86W25	NAL13_HUMAN	A	324	ENSP00000343891:E324A	ENSP00000343891:E324A	E	-	2	0	NLRP13	61116024	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.003000	0.13083	0.622000	0.30249	0.482000	0.46254	GAG		0.458	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		16	63	0	0	0	1	0	16	63				
PCDHA12	56137	broad.mit.edu	37	5	140257020	140257020	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140257020G>A	ENST00000398631.2	+	1	1963	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGACCACGGTGAGCCCGC	0.687																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1963-1965)Ggt>Agt									86.0	87.0	87.0					5																	140257020		2203	4299	6502	SO:0001583	missense	0							g.chr5:140257020G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1963G>A	5.37:g.140257020G>A	ENSP00000381628:p.Gly655Ser					PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron	p.G655S	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1963	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1963G>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411655	0.62399	.	.	ENSG00000251664	ENST00000398631	T	0.48522	0.81	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78355	0.4270	H	0.95504	3.68	0.43698	D	0.996158	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.86045	0.1522	9	0.87932	D	0	.	17.4901	0.87701	0.0:0.0:1.0:0.0	.	655;655	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	S	655	ENSP00000381628:G655S	ENSP00000381628:G655S	G	+	1	0	PCDHA12	140237204	1.000000	0.71417	0.980000	0.43619	0.030000	0.12068	9.096000	0.94182	2.213000	0.71641	0.561000	0.74099	GGT		0.687	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		4	81	0	0	0	1	0	4	81				
CA6	765	broad.mit.edu	37	1	9031007	9031007	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:9031007C>T	ENST00000377443.2	+	7	815	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y|CA6_ENST00000377442.2_Missense_Mutation_p.H211Y	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	271					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GCCCCTGAACCACAGAGTGGT	0.532																																						ENST00000377443.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16						c.(811-813)Cac>Tac		carbonic anhydrase VI							137.0	122.0	127.0					1																	9031007		2203	4300	6503	SO:0001583	missense	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9031007C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.811C>T	1.37:g.9031007C>T	ENSP00000366662:p.His271Tyr					CA6_ENST00000377442.2_Missense_Mutation_p.H211Y|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y|CA6_ENST00000476083.1_3'UTR	p.H271Y	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	7	815	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	271					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.811C>T	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315862	0.23908	.	.	ENSG00000131686	ENST00000377443;ENST00000377436;ENST00000377442	T;T;T	0.52983	0.64;0.64;0.64	5.71	-11.4	0.00090	Carbonic anhydrase, alpha-class, catalytic domain (4);	1.524830	0.03385	N	0.200976	T	0.35799	0.0944	L	0.52126	1.63	0.18873	N	0.999986	P;P	0.44478	0.836;0.836	B;B	0.40565	0.333;0.333	T	0.52646	-0.8548	10	0.51188	T	0.08	.	7.0136	0.24875	0.4702:0.1241:0.3469:0.0588	.	211;271	E7EMQ1;P23280	.;CAH6_HUMAN	Y	271;271;211	ENSP00000366662:H271Y;ENSP00000366654:H271Y;ENSP00000366661:H211Y	ENSP00000366654:H271Y	H	+	1	0	CA6	8953594	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-3.006000	0.00650	-3.473000	0.00156	0.195000	0.17529	CAC		0.532	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			15	74	0	0	0	1	0	15	74				
AMER2	219287	broad.mit.edu	37	13	25744275	25744275	+	Silent	SNP	G	G	T	rs372214037		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr13:25744275G>T	ENST00000515384.1	-	1	2150	c.1483C>A	c.(1483-1485)Cgg>Agg	p.R495R	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Silent_p.R376R|AMER2_ENST00000357816.2_Silent_p.R376R			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	495					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										ATGGGAATCCGGTTGAGCCTC	0.642																																						ENST00000357816.2																			0											c.(1126-1128)Cgg>Agg		APC membrane recruitment protein 2							46.0	44.0	45.0					13																	25744275		2203	4300	6503	SO:0001819	synonymous_variant	219287							g.chr13:25744275G>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1483C>A	13.37:g.25744275G>T						AMER2_ENST00000381853.3_Silent_p.R376R|AMER2_ENST00000515384.1_Silent_p.R495R	p.R376R							3	1601	-								Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.1126C>A	CCDS53859.1																																																																																				0.642	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		9	56	1	0	3.09899e-07	1	3.50145e-07	9	56				
CDCA2	157313	broad.mit.edu	37	8	25341608	25341608	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341608A>T	ENST00000330560.3	+	10	1724	c.1247A>T	c.(1246-1248)aAa>aTa	p.K416I	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.K401I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	416					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCATTGCGTAAAGGAGGAACA	0.438																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1246-1248)aAa>aTa		cell division cycle associated 2							101.0	98.0	99.0					8																	25341608		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25341608A>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1247A>T	8.37:g.25341608A>T	ENSP00000328228:p.Lys416Ile					CDCA2_ENST00000380665.3_Missense_Mutation_p.K401I|CDCA2_ENST00000521098.2_3'UTR	p.K416I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	10	1724	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	416					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.1247A>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334520	0.81801	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.51325	0.71;0.71	6.01	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.77103	2.36	0.37329	D	0.909881	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.991	T	0.72858	-0.4165	10	0.87932	D	0	-38.6887	8.0744	0.30708	0.9124:0.0:0.0876:0.0	.	416;401;416	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	I	416;401	ENSP00000328228:K416I;ENSP00000370040:K401I	ENSP00000328228:K416I	K	+	2	0	CDCA2	25397525	1.000000	0.71417	0.997000	0.53966	0.946000	0.59487	1.805000	0.38883	2.307000	0.77673	0.528000	0.53228	AAA		0.438	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		22	61	0	0	0	1	0	22	61				
NOTCH2	4853	broad.mit.edu	37	1	120480514	120480514	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:120480514delG	ENST00000256646.2	-	20	3522	c.3303delC	c.(3301-3303)cccfs	p.P1101fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1101	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGACATTGGGCACGTCAC	0.498			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(3301-3303)ccfs		notch 2							127.0	111.0	117.0					1																	120480514		2203	4300	6503	SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120480514delG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3303delC	1.37:g.120480514delG	ENSP00000256646:p.Pro1101fs						p.P1101fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	20	3522	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1101			EGF-like 29.		Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.3303delC	CCDS908.1																																																																																				0.498	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		14	60						14	60	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145368503	145368503	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:145368503G>C	ENST00000369339.3	+	17	2088	c.1835G>C	c.(1834-1836)tGt>tCt	p.C612S	NBPF10_ENST00000369338.1_Missense_Mutation_p.C610S|NBPF10_ENST00000342960.5_Missense_Mutation_p.C3494S			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	789	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGGATAGATGTTATTCGACT	0.463																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10480-10482)tGt>tCt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145368503G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.1835G>C	1.37:g.145368503G>C	ENSP00000358345:p.Cys612Ser					NBPF10_ENST00000369338.1_Missense_Mutation_p.C610S|NBPF10_ENST00000369339.2_Missense_Mutation_p.C612S	p.C3494S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	84	10516	+	all_hematologic(923;0.032)		3494					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.10481G>C		.	.	.	.	.	.	.	.	.	.	.	0.175	-1.068202	0.01934	.	.	ENSG00000163386	ENST00000369339;ENST00000369338;ENST00000342960	T;T	0.08984	3.03;3.03	0.732	-1.46	0.08800	.	.	.	.	.	T	0.02571	0.0078	M	0.76170	2.325	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.42085	-0.9472	9	0.42905	T	0.14	.	2.7878	0.05379	0.4398:0.2529:0.3073:0.0	.	558	Q4VC10	.	S	614;610;3494	ENSP00000358344:C610S;ENSP00000345684:C3494S	ENSP00000345684:C3494S	C	+	2	0	NBPF10	144079860	0.481000	0.25941	0.000000	0.03702	0.001000	0.01503	-1.422000	0.02453	-2.197000	0.00750	-0.909000	0.02823	TGT		0.463	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		10	663	0	0	0	1	0	10	663				
SMCP	4184	broad.mit.edu	37	1	152857072	152857072	+	Silent	SNP	C	C	T			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:152857072C>T	ENST00000368765.3	+	2	324	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	58	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida (GO:0007341)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAATCACTGCTGCCAGCCAA	0.537																																						ENST00000368765.3																			0				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8						c.(172-174)tgC>tgT		sperm mitochondria-associated cysteine-rich protein							156.0	143.0	147.0					1																	152857072		2203	4300	6503	SO:0001819	synonymous_variant	4184				penetration of zona pellucida|sperm motility	mitochondrial membrane		g.chr1:152857072C>T	BC014593	CCDS1029.1	1q21.3	2009-03-19	2005-10-06	2005-10-06	ENSG00000163206	ENSG00000163206			6962	protein-coding gene	gene with protein product		601148	"""mitochondrial capsule selenoprotein"""	MCSP		8833144	Standard	NM_030663		Approved		uc001fat.3	P49901	OTTHUMG00000012452	ENST00000368765.3:c.174C>T	1.37:g.152857072C>T							p.C58C	NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	324	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		58			7 X 7 (OR 8) AA approximate repeats.		Q96A42	Silent	SNP	ENST00000368765.3	37	c.174C>T	CCDS1029.1																																																																																				0.537	SMCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034665.1	NM_030663		18	200	0	0	0	1	0	18	200				
SLC27A3	11000	broad.mit.edu	37	1	153748614	153748615	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:153748614_153748615delGC	ENST00000368661.3	+	1	847_848	c.782_783delGC	c.(781-783)ggcfs	p.G261fs	SLC27A3_ENST00000271857.2_Frame_Shift_Del_p.G342fs|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	261					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCAGCTGCGGCGCGCGCGCGC	0.718																																						ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(1024-1026)gfs		solute carrier family 27 (fatty acid transporter), member 3				26,2210		5,16,1097						2.7	1.0			3	69,5013		8,53,2480	no	frameshift	SLC27A3	NM_024330.1		13,69,3577	A1A1,A1R,RR		1.3577,1.1628,1.2982				95,7223				SO:0001589	frameshift_variant	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153748614_153748615delGC	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.782_783delGC	1.37:g.153748624_153748625delGC	ENSP00000357650:p.Gly261fs					SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.G261fs|SLC27A3_ENST00000484014.1_3'UTR	p.G342fs			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	1785_1786	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		261					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Frame_Shift_Del	DEL	ENST00000368661.3	37	c.1025_1026delGC	CCDS1053.1																																																																																				0.718	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		2	4						2	4	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9783062	9783063	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:9783062_9783063insG	ENST00000457855.1	+	4	1804_1805	c.1793_1794insG	c.(1792-1797)ttggagfs	p.E599fs	BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000302054.3_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000383829.2_Frame_Shift_Ins_p.E599fs|BRPF1_ENST00000433861.2_Frame_Shift_Ins_p.E599fs			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	599	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGGCATGACTTGGAGCGAGCTC	0.51																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1792-1794)tgafs		bromodomain and PHD finger containing, 1																																				SO:0001589	frameshift_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9783062_9783063insG	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1795dupG	3.37:g.9783064_9783064dupG	ENSP00000410210:p.Glu599fs					BRPF1_ENST00000302054.3_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000433861.2_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000457855.1_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.*598fs	p.*598fs	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			5	2197_2198	+	Medulloblastoma(99;0.227)		598			Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Frame_Shift_Ins	INS	ENST00000457855.1	37	c.1793_1794insG	CCDS2575.1																																																																																				0.510	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		50	87						50	87	---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33465277	33465277	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:33465277delC	ENST00000379471.2	-	20	2696	c.2609delG	c.(2608-2610)ggtfs	p.G870fs	NOL6_ENST00000455041.2_Frame_Shift_Del_p.G818fs|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	870					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATCAGCGAAACCCTCACCAAG	0.627																																						ENST00000379471.2																			0				endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27						c.(2608-2610)gtfs		nucleolar protein 6 (RNA-associated)							36.0	27.0	30.0					9																	33465277		2202	4299	6501	SO:0001589	frameshift_variant	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33465277delC	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2609delG	9.37:g.33465277delC	ENSP00000368784:p.Gly870fs					NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Frame_Shift_Del_p.G818fs	p.G870fs			Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	20	2696	-			870					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Frame_Shift_Del	DEL	ENST00000379471.2	37	c.2609delG																																																																																					0.627	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		2	4						2	4	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T	rs190070312		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:89717695_89717696insT	ENST00000371953.3	+	7	2077_2078	c.720_721insT	c.(721-723)tttfs	p.F241fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	241	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		F -> S (in MCEPHAS). {ECO:0000269|PubMed:15805158}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(11)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Unknown(1)|Substitution - Missense(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1)	prostate(16)|central_nervous_system(11)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(718-723)tattgafs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717695_89717696insT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.723dupT	10.37:g.89717698_89717698dupT	ENSP00000361021:p.Phe241fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.*241fs	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	2077_2078	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	241		F -> S (in MCEPHAS).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.720_721insT	CCDS31238.1																																																																																				0.411	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		27	51						27	51	---	---	---	---
ADAM8	101	broad.mit.edu	37	10	135085058	135085058	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:135085058delC	ENST00000445355.3	-	12	1308	c.1258delG	c.(1258-1260)gagfs	p.E420fs	ADAM8_ENST00000485491.2_Frame_Shift_Del_p.E381fs|ADAM8_ENST00000415217.3_Frame_Shift_Del_p.E420fs|ADAM8_ENST00000559180.1_5'Flank	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	420	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TCGCACTGCTCCCCACGCTCC	0.682																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1258-1260)agfs		ADAM metallopeptidase domain 8							14.0	12.0	13.0					10																	135085058		2111	4203	6314	SO:0001589	frameshift_variant	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135085058delC	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1258delG	10.37:g.135085058delC	ENSP00000453302:p.Glu420fs					ADAM8_ENST00000485491.2_Frame_Shift_Del_p.E381fs|ADAM8_ENST00000415217.3_Frame_Shift_Del_p.E420fs	p.E420fs	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	12	1308	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	381					B4DVM6|H0YL36|H0YLR0|H0YN39	Frame_Shift_Del	DEL	ENST00000445355.3	37	c.1258delG	CCDS31319.2																																																																																				0.682	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		2	4						2	4	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118343036	118343037	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:118343036_118343037insA	ENST00000389506.5	+	3	1162_1163	c.1162_1163insA	c.(1162-1164)gaafs	p.E388fs	KMT2A_ENST00000534358.1_Frame_Shift_Ins_p.E388fs|KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.E388fs			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	388					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAAGAAAATTGAAAAAGAAGCA	0.431																																						ENST00000534358.1																			0											c.(1162-1164)aaafs		lysine (K)-specific methyltransferase 2A																																				SO:0001589	frameshift_variant	4297							g.chr11:118343036_118343037insA	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.1167dupA	11.37:g.118343041_118343041dupA	ENSP00000374157:p.Glu388fs					KMT2A_ENST00000354520.4_Frame_Shift_Ins_p.K388fs|KMT2A_ENST00000389506.5_Frame_Shift_Ins_p.K388fs	p.K388fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					3	1185_1186	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Frame_Shift_Ins	INS	ENST00000389506.5	37	c.1162_1163insA	CCDS31686.1																																																																																				0.431	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		13	81						13	81	---	---	---	---
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647494	33647495	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:33647494_33647495insC	ENST00000558425.1	-	2	104_105	c.105_106insG	c.(103-108)gggtccfs	p.S36fs																								AGTCTCAGGGACCCCCCAGGCT	0.564																																						ENST00000558425.1																			0											c.(103-108)ggccctfs																																						SO:0001589	frameshift_variant	0							g.chr16:33647494_33647495insC																												ENST00000558425.1:c.106dupG	16.37:g.33647500_33647500dupC	ENSP00000475107:p.Ser36fs						p.GP35fs							2	104_105	-									Frame_Shift_Ins	INS	ENST00000558425.1	37	c.105_106insG																																																																																					0.564	RP11-812E19.9-201	KNOWN	basic	protein_coding	protein_coding				44	68						44	68	---	---	---	---
BIK	638	broad.mit.edu	37	22	43523734	43523734	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr22:43523734delG	ENST00000216115.2	+	3	256	c.193delG	c.(193-195)gggfs	p.G65fs		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	65					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GGCCTGCATCGGGGACGAGAT	0.677																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(193-195)ggfs		BCL2-interacting killer (apoptosis-inducing)							24.0	20.0	21.0					22																	43523734		2147	4197	6344	SO:0001589	frameshift_variant	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43523734delG	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.193delG	22.37:g.43523734delG	ENSP00000216115:p.Gly65fs						p.G65fs	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			3	256	+		Ovarian(80;0.0694)	65					Q16582|Q6FH93	Frame_Shift_Del	DEL	ENST00000216115.2	37	c.193delG	CCDS14044.1																																																																																				0.677	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		2	4						2	4	---	---	---	---
