#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
ADAP2	55803	broad.mit.edu	37	17	29272068	29272068	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:29272068G>A	ENST00000330889.3	+	6	989	c.654G>A	c.(652-654)ggG>ggA	p.G218G	ADAP2_ENST00000580525.1_Silent_p.G224G	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	218	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ATGAAAGTGGGAAGGTGAGAT	0.592																																						ENST00000330889.3																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						c.(652-654)ggG>ggA		ArfGAP with dual PH domains 2							78.0	67.0	71.0					17																	29272068		2203	4300	6503	SO:0001819	synonymous_variant	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29272068G>A	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.654G>A	17.37:g.29272068G>A						ADAP2_ENST00000580525.1_Silent_p.G224G	p.G218G	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN			6	989	+			218			PH 1.		Q8N4Q6|Q96SD5	Silent	SNP	ENST00000330889.3	37	c.654G>A	CCDS11261.1																																																																																				0.592	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		14	31	0	0	0	1	0	14	31				
GRM3	2913	broad.mit.edu	37	7	86493637	86493637	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:86493637G>A	ENST00000361669.2	+	6	3705	c.2606G>A	c.(2605-2607)cGg>cAg	p.R869Q	GRM3_ENST00000394720.2_Silent_p.A511A|GRM3_ENST00000536043.1_Missense_Mutation_p.R741Q|GRM3_ENST00000439827.1_Silent_p.A513A|GRM3_ENST00000546348.1_Missense_Mutation_p.R461Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	869					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					TGCAATGGGCGGGAAGTCCTC	0.473																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(2605-2607)cGg>cAg		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						284.0	232.0	250.0					7																	86493637		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86493637G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.2606G>A	7.37:g.86493637G>A	ENSP00000355316:p.Arg869Gln					GRM3_ENST00000536043.1_Missense_Mutation_p.R741Q|GRM3_ENST00000394720.2_Silent_p.A511A|GRM3_ENST00000546348.1_Missense_Mutation_p.R461Q|GRM3_ENST00000439827.1_Silent_p.A513A	p.R869Q	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			6	3705	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		869					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.2606G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	34	5.384320	0.95967	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.88431	-2.38;-2.33;-2.15	5.99	5.99	0.97316	.	0.045207	0.85682	D	0.000000	D	0.91284	0.7252	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.987	P;D;P	0.64042	0.732;0.921;0.529	D	0.91172	0.4969	10	0.54805	T	0.06	.	19.4659	0.94939	0.0:0.0:1.0:0.0	.	461;741;869	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	Q	869;461;741	ENSP00000355316:R869Q;ENSP00000444064:R461Q;ENSP00000441407:R741Q	ENSP00000355316:R869Q	R	+	2	0	GRM3	86331573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.502000	0.90505	2.840000	0.97914	0.655000	0.94253	CGG		0.473	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			31	87	0	0	0	1	0	31	87				
MAP3K9	4293	broad.mit.edu	37	14	71200025	71200025	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:71200025C>G	ENST00000554752.2	-	11	2060	c.2061G>C	c.(2059-2061)gaG>gaC	p.E687D	MAP3K9_ENST00000555993.2_Missense_Mutation_p.E701D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E664D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E420D|MAP3K9_ENST00000554146.1_Missense_Mutation_p.E415D	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	687					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		gtaggcgactctctccactcc	0.532																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(2059-2061)gaG>gaC		mitogen-activated protein kinase kinase kinase 9							41.0	44.0	43.0					14																	71200025		2203	4300	6503	SO:0001583	missense	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71200025C>G	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2061G>C	14.37:g.71200025C>G	ENSP00000451612:p.Glu687Asp					MAP3K9_ENST00000554146.1_Missense_Mutation_p.E415D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E664D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E701D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E420D	p.E687D			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	11	2060	-			687					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37	c.2061G>C		.	.	.	.	.	.	.	.	.	.	C	9.794	1.178653	0.21787	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.77	2.94	0.34122	.	0.267873	0.43579	N	0.000550	T	0.22781	0.0550	L	0.29908	0.895	0.26756	N	0.970095	B;B;B;B	0.10296	0.003;0.001;0.0;0.0	B;B;B;B	0.09377	0.002;0.001;0.002;0.004	T	0.19386	-1.0307	10	0.15952	T	0.53	.	9.51	0.39071	0.1425:0.7832:0.0:0.0743	.	415;687;701;420	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	D	687;701;420;664;415;403	ENSP00000451612:E687D;ENSP00000451038:E420D;ENSP00000370649:E664D;ENSP00000451921:E415D	ENSP00000005198:E701D	E	-	3	2	MAP3K9	70269778	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	1.658000	0.37376	0.609000	0.30018	0.561000	0.74099	GAG		0.532	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			5	28	0	0	0	1	0	5	28				
CECR6	27439	broad.mit.edu	37	22	17601203	17601203	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:17601203G>T	ENST00000331437.3	-	1	940	c.815C>A	c.(814-816)cCg>cAg	p.P272Q	CECR6_ENST00000399875.1_Intron|AC006946.15_ENST00000441544.1_5'Flank	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	272	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ATGCAGGGGCGGCGCGGCGTG	0.806																																						ENST00000331437.3																			0				haematopoietic_and_lymphoid_tissue(1)	1						c.(814-816)cCg>cAg		cat eye syndrome chromosome region, candidate 6							5.0	7.0	6.0					22																	17601203		1468	3244	4712	SO:0001583	missense	27439							g.chr22:17601203G>T	AF307451	CCDS13740.1, CCDS54494.1	22q11.2	2008-06-12			ENSG00000183307	ENSG00000183307			1844	protein-coding gene	gene with protein product						11381032	Standard	NM_031890		Approved		uc002zmb.2	Q9BXQ6	OTTHUMG00000030471	ENST00000331437.3:c.815C>A	22.37:g.17601203G>T	ENSP00000329318:p.Pro272Gln					CECR6_ENST00000399875.1_Intron	p.P272Q	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN		Colorectal(9;0.221)	1	940	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	272			Ala-rich.		A8MYY1	Missense_Mutation	SNP	ENST00000331437.3	37	c.815C>A	CCDS13740.1	.	.	.	.	.	.	.	.	.	.	g	13.33	2.204245	0.38905	.	.	ENSG00000183307	ENST00000331437	.	.	.	2.81	2.81	0.32909	.	0.000000	0.31660	U	0.007261	T	0.44603	0.1301	N	0.24115	0.695	0.27226	N	0.959545	D	0.71674	0.998	D	0.72982	0.979	T	0.15983	-1.0418	9	0.44086	T	0.13	.	9.2246	0.37398	0.0:0.0:1.0:0.0	.	272	Q9BXQ6	CECR6_HUMAN	Q	272	.	ENSP00000329318:P272Q	P	-	2	0	CECR6	15981203	0.198000	0.23374	0.994000	0.49952	0.749000	0.42624	0.923000	0.28757	1.603000	0.50134	0.450000	0.29827	CCG		0.806	CECR6-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075359.4	NM_031890		8	23	1	0	2.74318e-10	1	3.03121e-10	8	23				
POM121	9883	broad.mit.edu	37	7	72413745	72413745	+	Silent	SNP	C	C	T	rs376762742		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:72413745C>T	ENST00000434423.2	+	11	3213	c.3213C>T	c.(3211-3213)tcC>tcT	p.S1071S	POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000257622.4_Silent_p.S806S|POM121_ENST00000358357.3_Silent_p.S806S|POM121_ENST00000395270.1_Silent_p.S806S			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1071	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCACCAGCTCCGGCTTTGGAG	0.657																																						ENST00000395270.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2416-2418)tcC>tcT		POM121 transmembrane nucleoporin							20.0	24.0	22.0					7																	72413745		2203	4297	6500	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413745C>T	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3213C>T	7.37:g.72413745C>T						POM121_ENST00000257622.4_Silent_p.S806S|POM121_ENST00000446813.1_Silent_p.S806S|POM121_ENST00000358357.3_Silent_p.S806S|POM121_ENST00000434423.2_Silent_p.S1071S	p.S806S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3459	+		Lung NSC(55;0.163)	1071			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.2418C>T																																																																																					0.657	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			8	90	0	0	0	1	0	8	90				
HIST1H4B	8366	broad.mit.edu	37	6	26027344	26027344	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:26027344C>T	ENST00000377364.3	-	1	136	c.137G>A	c.(136-138)cGa>cAa	p.R46Q		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	46					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R46Q(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						ACCGGAAATTCGCTTAACCCC	0.572																																						ENST00000377364.3																			1	Substitution - Missense(1)	p.R46Q(1)	large_intestine(1)	large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(136-138)cGa>cAa		histone cluster 1, H4b							77.0	69.0	72.0					6																	26027344		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027344C>T	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.137G>A	6.37:g.26027344C>T	ENSP00000366581:p.Arg46Gln						p.R46Q	NM_003544.2	NP_003535.1	P62805	H4_HUMAN			1	136	-			46					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.137G>A	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	22.1	4.241449	0.79912	.	.	ENSG00000124529	ENST00000377364	T	0.75367	-0.93	4.65	4.65	0.58169	.	0.000000	0.56097	U	0.000040	T	0.81721	0.4882	.	.	.	0.44117	D	0.996897	.	.	.	.	.	.	D	0.84239	0.0471	7	0.87932	D	0	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	Q	46	ENSP00000366581:R46Q	ENSP00000366581:R46Q	R	-	2	0	HIST1H4B	26135323	1.000000	0.71417	0.993000	0.49108	0.001000	0.01503	7.309000	0.78937	2.506000	0.84524	0.563000	0.77884	CGA		0.572	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		12	85	0	0	0	1	0	12	85				
UCHL5	51377	broad.mit.edu	37	1	192998768	192998768	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:192998768G>C	ENST00000367455.4	-	4	501	c.266C>G	c.(265-267)gCt>gGt	p.A89G	UCHL5_ENST00000367448.1_Missense_Mutation_p.A89G|UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000367454.1_Missense_Mutation_p.A89G|UCHL5_ENST00000367449.1_Missense_Mutation_p.A89G|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367451.4_Missense_Mutation_p.A89G	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	89					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						GGCTTGAGTAGCACAAGCATT	0.323																																						ENST00000367455.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						c.(265-267)gCt>gGt		ubiquitin carboxyl-terminal hydrolase L5							36.0	34.0	35.0					1																	192998768		2202	4300	6502	SO:0001583	missense	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:192998768G>C		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.266C>G	1.37:g.192998768G>C	ENSP00000356425:p.Ala89Gly					UCHL5_ENST00000367452.4_5'UTR|UCHL5_ENST00000367448.1_Missense_Mutation_p.A89G|UCHL5_ENST00000367451.4_Missense_Mutation_p.A89G|UCHL5_ENST00000367449.1_Missense_Mutation_p.A89G|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367454.1_Missense_Mutation_p.A89G	p.A89G	NM_015984.3	NP_057068.1	Q9Y5K5	UCHL5_HUMAN			4	501	-			89					Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Missense_Mutation	SNP	ENST00000367455.4	37	c.266C>G	CCDS1378.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920891	0.92249	.	.	ENSG00000116750	ENST00000367455;ENST00000367454;ENST00000367450;ENST00000367451;ENST00000367448;ENST00000367449;ENST00000391991;ENST00000421683	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.67	5.67	0.87782	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (4);	0.046895	0.85682	D	0.000000	T	0.53916	0.1826	L	0.58925	1.835	0.80722	D	1	P;P;P;P	0.51057	0.941;0.932;0.718;0.899	P;P;P;D	0.68621	0.906;0.863;0.721;0.959	T	0.37384	-0.9708	9	.	.	.	-10.7717	20.1169	0.97940	0.0:0.0:1.0:0.0	.	89;89;89;89	Q9Y5K5-2;Q9Y5K5-4;Q9Y5K5-3;Q9Y5K5	.;.;.;UCHL5_HUMAN	G	89;89;101;89;89;89;79;80	ENSP00000356425:A89G;ENSP00000356424:A89G;ENSP00000356420:A101G;ENSP00000356421:A89G;ENSP00000356418:A89G;ENSP00000356419:A89G;ENSP00000389563:A80G	.	A	-	2	0	UCHL5	191265391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.101000	0.94219	2.835000	0.97688	0.591000	0.81541	GCT		0.323	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984		5	26	0	0	0	1	0	5	26				
ANGPTL2	23452	broad.mit.edu	37	9	129870815	129870815	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr9:129870815T>C	ENST00000373425.3	-	2	813	c.196A>G	c.(196-198)Acg>Gcg	p.T66A	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000373434.1_Intron|ANGPTL2_ENST00000491991.1_5'Flank|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	66					multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						ATGGCACCCGTGACCCGCTGC	0.572																																						ENST00000373425.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						c.(196-198)Acg>Gcg		angiopoietin-like 2							70.0	57.0	61.0					9																	129870815		2203	4300	6503	SO:0001583	missense	23452				multicellular organismal development|signal transduction	extracellular space	receptor binding	g.chr9:129870815T>C	AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859		"""Fibrinogen C domain containing"""	490	protein-coding gene	gene with protein product		605001				10473614	Standard	NM_012098		Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.196A>G	9.37:g.129870815T>C	ENSP00000362524:p.Thr66Ala					ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron	p.T66A	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN			2	813	-			66					Q5JT58|Q8NCH7	Missense_Mutation	SNP	ENST00000373425.3	37	c.196A>G	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099195	0.76983	.	.	ENSG00000136859	ENST00000373425	T	0.57436	0.4	4.87	4.87	0.63330	.	0.054298	0.85682	D	0.000000	T	0.68016	0.2955	M	0.77313	2.365	0.80722	D	1	P	0.51351	0.944	P	0.57152	0.814	T	0.71069	-0.4699	10	0.46703	T	0.11	.	14.4911	0.67651	0.0:0.0:0.0:1.0	.	66	Q9UKU9	ANGL2_HUMAN	A	66	ENSP00000362524:T66A	ENSP00000362524:T66A	T	-	1	0	ANGPTL2	128910636	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	6.187000	0.72039	1.834000	0.53371	0.533000	0.62120	ACG		0.572	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	NM_012098		15	54	0	0	0	1	0	15	54				
PTGIS	5740	broad.mit.edu	37	20	48129715	48129715	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:48129715C>T	ENST00000244043.4	-	8	1137	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	370					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	CGCCCGTCTGCCATGGGCATG	0.617																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(1108-1110)Gca>Aca		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						94.0	83.0	87.0					20																	48129715		2203	4300	6503	SO:0001583	missense	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48129715C>T		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.1108G>A	20.37:g.48129715C>T	ENSP00000244043:p.Ala370Thr					PTGIS_ENST00000478971.1_5'UTR	p.A370T	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		8	1137	-			370					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Missense_Mutation	SNP	ENST00000244043.4	37	c.1108G>A	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313506	0.81358	.	.	ENSG00000124212	ENST00000244043	T	0.63913	-0.07	4.75	3.79	0.43588	.	0.183675	0.46758	D	0.000273	T	0.67739	0.2925	M	0.62266	1.93	0.37841	D	0.929051	D	0.67145	0.996	P	0.58820	0.846	T	0.67730	-0.5595	10	0.27082	T	0.32	-15.4983	8.7975	0.34887	0.0:0.762:0.1505:0.0875	.	370	Q16647	PTGIS_HUMAN	T	370	ENSP00000244043:A370T	ENSP00000244043:A370T	A	-	1	0	PTGIS	47563122	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.751000	0.38339	2.202000	0.70862	0.561000	0.74099	GCA		0.617	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2			51	70	0	0	0	1	0	51	70				
PSPH	5723	broad.mit.edu	37	7	56082733	56082733	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:56082733C>T	ENST00000395471.3	-	7	1358	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	PSPH_ENST00000275605.3_Missense_Mutation_p.E185K|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	185					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGACAGGCTTCCATATCTGTG	0.289																																						ENST00000395471.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(553-555)Gaa>Aaa		phosphoserine phosphatase							68.0	71.0	70.0					7																	56082733		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56082733C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.553G>A	7.37:g.56082733C>T	ENSP00000378854:p.Glu185Lys					PSPH_ENST00000275605.3_Missense_Mutation_p.E185K|PSPH_ENST00000459834.1_5'UTR	p.E185K			P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		7	1358	-	Breast(14;0.214)		185					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.553G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114508	0.94339	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	T;T;T	0.67523	-0.27;-0.27;-0.27	5.69	5.69	0.88448	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.094594	0.64402	D	0.000001	T	0.76234	0.3959	L	0.53561	1.675	0.80722	D	1	D;P	0.60575	0.988;0.935	P;P	0.58820	0.846;0.773	T	0.73817	-0.3863	10	0.38643	T	0.18	-28.0653	18.7908	0.91973	0.0:1.0:0.0:0.0	.	185;185	Q53EY1;P78330	.;SERB_HUMAN	K	185	ENSP00000275605:E185K;ENSP00000378854:E185K;ENSP00000398653:E185K	ENSP00000275605:E185K	E	-	1	0	PSPH	56050227	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	7.598000	0.82745	2.678000	0.91216	0.591000	0.81541	GAA		0.289	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		16	72	0	0	0	1	0	16	72				
TAPBP	6892	broad.mit.edu	37	6	33272235	33272235	+	Missense_Mutation	SNP	G	G	A	rs374308480		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:33272235G>A	ENST00000489157.1	-	4	1000	c.788C>T	c.(787-789)tCg>tTg	p.S263L	TAPBP_ENST00000426633.2_Missense_Mutation_p.S350L|TAPBP_ENST00000475304.1_Missense_Mutation_p.S368L|TAPBP_ENST00000434618.2_Missense_Mutation_p.S350L|TAPBP_ENST00000456592.2_Missense_Mutation_p.S350L			O15533	TPSN_HUMAN	TAP binding protein (tapasin)	350					amide transport (GO:0042886)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|peptide antigen stabilization (GO:0050823)|peptide transport (GO:0015833)|protein complex assembly (GO:0006461)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|MHC class I peptide loading complex (GO:0042824)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)|peptide antigen-transporting ATPase activity (GO:0015433)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)|unfolded protein binding (GO:0051082)			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						GCGCAGGGCCGAGAGCCACCT	0.677																																						ENST00000434618.2																			0				endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						c.(1048-1050)tCg>tTg		TAP binding protein (tapasin)		G	LEU/SER,LEU/SER,LEU/SER	0,4402		0,0,2201	24.0	27.0	26.0		1049,1049,788	5.5	1.0	6		26	1,8587		0,1,4293	no	missense,missense,missense	TAPBP	NM_003190.4,NM_172208.2,NM_172209.2	145,145,145	0,1,6494	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	350/449,350/505,263/362	33272235	1,12989	2201	4294	6495	SO:0001583	missense	6892				antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding	g.chr6:33272235G>A	Y13582	CCDS34426.1, CCDS34427.1, CCDS34428.1, CCDS34427.2, CCDS34428.2	6p21.3	2014-09-17			ENSG00000231925	ENSG00000231925		"""Immunoglobulin superfamily / C1-set domain containing"""	11566	protein-coding gene	gene with protein product		601962				9238042	Standard	NM_003190		Approved	TAPA	uc003odz.3	O15533	OTTHUMG00000031090	ENST00000489157.1:c.788C>T	6.37:g.33272235G>A	ENSP00000419659:p.Ser263Leu					TAPBP_ENST00000489157.1_Missense_Mutation_p.S263L|TAPBP_ENST00000456592.2_Missense_Mutation_p.S350L|TAPBP_ENST00000426633.2_Missense_Mutation_p.S350L|TAPBP_ENST00000475304.1_Missense_Mutation_p.S368L	p.S350L	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN			5	1394	-			350			Ig-like C1-type.		A2AB91|A2ABC0|B0V003|B0V0A6|B2ZUA4|E9PGM2|O15210|O15272|Q5STJ8|Q5STK6|Q5STQ5|Q5STQ6|Q66K65|Q96KK7|Q9HAN8|Q9UEE0|Q9UEE4|Q9UIZ6|Q9Y6K2	Missense_Mutation	SNP	ENST00000489157.1	37	c.1049C>T	CCDS34427.2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450426	0.84101	0.0	1.16E-4	ENSG00000231925	ENST00000434618;ENST00000475304;ENST00000489157;ENST00000426633;ENST00000456592;ENST00000449540	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	5.51	5.51	0.81932	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.185406	0.47455	D	0.000222	T	0.31167	0.0788	M	0.63428	1.95	0.42321	D	0.992257	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.999;0.999	T	0.02371	-1.1169	10	0.87932	D	0	-25.3199	14.905	0.70711	0.0:0.0:1.0:0.0	.	350;263;368;350;350	G5E9H8;E9PGM2;A2AB90;O15533-3;O15533	.;.;.;.;TPSN_HUMAN	L	350;368;263;350;350;350	ENSP00000395701:S350L;ENSP00000417949:S368L;ENSP00000419659:S263L;ENSP00000404833:S350L;ENSP00000387803:S350L	ENSP00000404833:S350L	S	-	2	0	TAPBP	33380213	0.999000	0.42202	0.953000	0.39169	0.777000	0.43975	4.921000	0.63397	2.598000	0.87819	0.498000	0.49722	TCG		0.677	TAPBP-006	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276425.2			11	60	0	0	0	1	0	11	60				
GNPTAB	79158	broad.mit.edu	37	12	102158696	102158696	+	Missense_Mutation	SNP	C	C	T	rs281864985		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:102158696C>T	ENST00000299314.7	-	13	2261	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	667					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GGAATATCCTCAAAAAGGATT	0.428																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1999-2001)Gag>Aag		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							86.0	86.0	86.0					12																	102158696		2203	4300	6503	SO:0001583	missense	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158696C>T	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.1999G>A	12.37:g.102158696C>T	ENSP00000299314:p.Glu667Lys						p.E667K	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2261	-			667					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Missense_Mutation	SNP	ENST00000299314.7	37	c.1999G>A	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340638	0.41498	.	.	ENSG00000111670	ENST00000299314	D	0.96427	-4.01	5.96	5.96	0.96718	.	0.164580	0.52532	D	0.000077	D	0.93812	0.8021	L	0.36672	1.1	0.80722	D	1	P	0.44734	0.842	B	0.37731	0.257	D	0.93763	0.7068	10	0.54805	T	0.06	-31.1381	20.422	0.99049	0.0:1.0:0.0:0.0	.	667	Q3T906	GNPTA_HUMAN	K	667	ENSP00000299314:E667K	ENSP00000299314:E667K	E	-	1	0	GNPTAB	100682827	1.000000	0.71417	0.993000	0.49108	0.106000	0.19336	3.450000	0.52957	2.832000	0.97577	0.655000	0.94253	GAG		0.428	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			5	53	0	0	0	1	0	5	53				
ZFP30	22835	broad.mit.edu	37	19	38126661	38126661	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:38126661G>C	ENST00000351218.2	-	6	1338	c.781C>G	c.(781-783)Caa>Gaa	p.Q261E	ZFP30_ENST00000392144.1_Missense_Mutation_p.Q261E|ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.Q261E	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	261					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)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATCCTTTGATGGAGATTA	0.423																																						ENST00000351218.2																			0				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(781-783)Caa>Gaa		ZFP30 zinc finger protein							84.0	85.0	85.0					19																	38126661		2203	4300	6503	SO:0001583	missense	22835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38126661G>C	AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.781C>G	19.37:g.38126661G>C	ENSP00000343581:p.Gln261Glu					ZFP30_ENST00000514101.2_Missense_Mutation_p.Q261E|ZFP30_ENST00000392144.1_Missense_Mutation_p.Q261E|ZFP30_ENST00000589018.1_Intron	p.Q261E	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1338	-			261					Q58EY8	Missense_Mutation	SNP	ENST00000351218.2	37	c.781C>G	CCDS33005.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.707837	0.48412	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144	T;T;T	0.07327	3.2;3.2;3.2	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.520533	0.14418	N	0.320823	T	0.18383	0.0441	L	0.28740	0.885	0.27331	N	0.956781	D;D	0.67145	0.996;0.996	D;D	0.74348	0.983;0.983	T	0.07366	-1.0776	10	0.45353	T	0.12	.	15.355	0.74421	0.0:0.0:1.0:0.0	.	261;261	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	E	261	ENSP00000343581:Q261E;ENSP00000422930:Q261E;ENSP00000375988:Q261E	ENSP00000343581:Q261E	Q	-	1	0	ZFP30	42818501	0.630000	0.27155	0.999000	0.59377	0.995000	0.86356	1.177000	0.31969	2.223000	0.72356	0.655000	0.94253	CAA		0.423	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109601.2	NM_014898		14	76	0	0	0	1	0	14	76				
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493																																						ENST00000568624.1																			0																																																			0							g.chr15:28600002T>A																													15.37:g.28600002T>A														0	404	-									RNA	SNP	ENST00000568624.1	37			.	.	.	.	.	.	.	.	.	.	.	5.336	0.247398	0.10130	.	.	ENSG00000237850	ENST00000454724;ENST00000424531	.	.	.	.	.	.	.	.	.	.	.	T	0.14270	0.0345	.	.	.	.	.	.	B	0.11235	0.004	B	0.01281	0.0	T	0.23476	-1.0187	4	0.18276	T	0.48	.	.	.	.	.	112	B4DY83	.	H	118;116	.	ENSP00000393266:Q116H	Q	-	3	2	AC091304.2	26273597	0.988000	0.35896	0.117000	0.21633	0.118000	0.20060	-1.015000	0.03637	-2.183000	0.00763	-2.300000	0.00261	CAA		0.493	RP11-483E23.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431212.1			4	67	0	0	0	1	0	4	67				
SMARCA4	6597	broad.mit.edu	37	19	11101923	11101923	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:11101923G>A	ENST00000429416.3	+	9	1624	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R448H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R448H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R448H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R448H|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R448H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R448H	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	448					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGTCCCTGCGCGAGGCCCGC	0.657			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(1342-1344)cGc>cAc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							38.0	37.0	37.0					19																	11101923		2203	4300	6503	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11101923G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1343G>A	19.37:g.11101923G>A	ENSP00000395654:p.Arg448His					SMARCA4_ENST00000589677.1_Missense_Mutation_p.R448H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R448H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R448H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R448H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R448H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R448H	p.R448H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			8	1627	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	448					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.1343G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	34	5.367291	0.95900	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.71400	0.3335	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.85130	0.996;0.997;0.997;0.996;0.993;0.997;0.997	T	0.78071	-0.2347	10	0.87932	D	0	-31.3036	17.2802	0.87126	0.0:0.0:1.0:0.0	.	448;448;448;448;448;448;448	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	H	448	ENSP00000395654:R448H;ENSP00000350720:R448H;ENSP00000343896:R448H;ENSP00000445036:R448H;ENSP00000392837:R448H;ENSP00000397783:R448H;ENSP00000414727:R448H	ENSP00000343896:R448H	R	+	2	0	SMARCA4	10962923	1.000000	0.71417	0.980000	0.43619	0.961000	0.63080	9.565000	0.98154	2.696000	0.92011	0.655000	0.94253	CGC		0.657	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		6	38	0	0	0	1	0	6	38				
COLGALT2	23127	broad.mit.edu	37	1	183913418	183913418	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:183913418C>A	ENST00000361927.4	-	10	1680	c.1309G>T	c.(1309-1311)Gac>Tac	p.D437Y	COLGALT2_ENST00000367521.1_Missense_Mutation_p.D45Y|COLGALT2_ENST00000546159.1_Missense_Mutation_p.D437Y|COLGALT2_ENST00000367520.3_Missense_Mutation_p.D174Y	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	437					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CGCACATCGTCTTCAATTACA	0.403																																						ENST00000361927.4																			0											c.(1309-1311)Gac>Tac		collagen beta(1-O)galactosyltransferase 2							117.0	108.0	111.0					1																	183913418		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183913418C>A	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.1309G>T	1.37:g.183913418C>A	ENSP00000354960:p.Asp437Tyr					COLGALT2_ENST00000367521.1_Missense_Mutation_p.D45Y|COLGALT2_ENST00000546159.1_Missense_Mutation_p.D437Y|COLGALT2_ENST00000367520.3_Missense_Mutation_p.D174Y	p.D437Y	NM_015101.2	NP_055916.1					10	1680	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.1309G>T	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920319	0.73098	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367521;ENST00000367520	D;D	0.94232	-3.33;-3.38	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.97917	0.9315	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99470	1.0945	10	0.87932	D	0	-14.4389	18.3069	0.90185	0.0:1.0:0.0:0.0	.	437;437;174	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	Y	437;437;45;174	ENSP00000439112:D437Y;ENSP00000354960:D437Y	ENSP00000354960:D437Y	D	-	1	0	GLT25D2	182180041	1.000000	0.71417	0.993000	0.49108	0.425000	0.31504	7.521000	0.81832	2.326000	0.78906	0.561000	0.74099	GAC		0.403	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		5	97	1	0	0.184627	1	0.184627	5	97				
ZBED1	9189	broad.mit.edu	37	X	2408255	2408255	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:2408255G>C	ENST00000381223.4	-	2	709	c.506C>G	c.(505-507)tCt>tGt	p.S169C	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.S169C|ZBED1_ENST00000515319.1_5'Flank|ZBED1_ENST00000381218.3_Missense_Mutation_p.S169C	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	169					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCTTGGTAGAGATGTACTT	0.642																																						ENST00000381223.4																			0				endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(505-507)tCt>tGt		zinc finger, BED-type containing 1							133.0	140.0	137.0					X																	2408255		2203	4296	6499	SO:0001583	missense	9189					nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	g.chrX:2408255G>C	AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.506C>G	X.37:g.2408255G>C	ENSP00000370621:p.Ser169Cys					DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.S169C|ZBED1_ENST00000381222.2_Missense_Mutation_p.S169C	p.S169C	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN			2	709	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	169					Q96BY4	Missense_Mutation	SNP	ENST00000381223.4	37	c.506C>G	CCDS14118.1	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204480	0.01568	.	.	ENSG00000214717	ENST00000381223;ENST00000381222;ENST00000381218;ENST00000461691	.	.	.	2.91	0.781	0.18561	.	0.766208	0.11743	N	0.533826	T	0.38374	0.1038	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27400	-1.0075	8	0.48119	T	0.1	-22.2277	12.8673	0.57946	0.0:0.7817:0.2183:0.0	.	169	O96006	ZBED1_HUMAN	C	169	.	ENSP00000370616:S169C	S	-	2	0	ZBED1	2418255	0.017000	0.18338	0.030000	0.17652	0.113000	0.19764	1.316000	0.33620	-0.230000	0.09840	-0.365000	0.07479	TCT		0.642	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144310.3	NM_004729		52	145	0	0	0	1	0	52	145				
TPTE	7179	broad.mit.edu	37	21	10920159	10920159	+	Missense_Mutation	SNP	G	G	T	rs557556075	byFrequency	TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr21:10920159G>T	ENST00000361285.4	-	19	1424	c.1095C>A	c.(1093-1095)agC>agA	p.S365R	TPTE_ENST00000342420.5_Missense_Mutation_p.S327R|TPTE_ENST00000298232.7_Missense_Mutation_p.S347R|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	365	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATAATACAGGCTTTCCTACA	0.388													.|||	2	0.000399361	0.0	0.0	5008	,	,		46450	0.002		0.0	False		,,,				2504	0.0					ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1039-1041)agC>agA		transmembrane phosphatase with tensin homology							94.0	88.0	90.0					21																	10920159		2203	4299	6502	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10920159G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1095C>A	21.37:g.10920159G>T	ENSP00000355208:p.Ser365Arg					TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S365R|TPTE_ENST00000342420.5_Missense_Mutation_p.S327R	p.S347R	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	18	1408	-			365			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.1041C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	11.97	1.798417	0.31777	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.86030	-2.06;-2.06;-2.06	2.32	0.843	0.18935	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91143	0.7211	M	0.92026	3.265	0.20307	N	0.999919	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.72982	0.976;0.976;0.979	T	0.82161	-0.0594	10	0.87932	D	0	-19.838	3.7912	0.08721	0.4712:0.0:0.5288:0.0	.	327;347;365	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	R	347;365;327	ENSP00000298232:S347R;ENSP00000355208:S365R;ENSP00000344441:S327R	ENSP00000298232:S347R	S	-	3	2	TPTE	9942030	0.788000	0.28762	0.013000	0.15412	0.202000	0.24057	-0.300000	0.08243	-0.019000	0.14055	0.184000	0.17185	AGC		0.388	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			5	73	1	0	5.9392e-07	1	6.37167e-07	5	73				
FOXN3	1112	broad.mit.edu	37	14	89747335	89747335	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:89747335G>A	ENST00000345097.4	-	4	820	c.704C>T	c.(703-705)cCg>cTg	p.P235L	FOXN3_ENST00000557258.1_Missense_Mutation_p.P235L|FOXN3_ENST00000555658.1_5'UTR|FOXN3_ENST00000261302.5_Missense_Mutation_p.P235L|FOXN3_ENST00000555353.1_Missense_Mutation_p.P235L	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	235					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTACTGCCCGGCCAGATGGG	0.542																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(703-705)cCg>cTg		forkhead box N3							87.0	66.0	73.0					14																	89747335		2203	4300	6503	SO:0001583	missense	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89747335G>A		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.704C>T	14.37:g.89747335G>A	ENSP00000343288:p.Pro235Leu					FOXN3_ENST00000557258.1_Missense_Mutation_p.P235L|FOXN3_ENST00000261302.5_Missense_Mutation_p.P235L|FOXN3_ENST00000555658.1_5'UTR|FOXN3_ENST00000555353.1_Missense_Mutation_p.P235L	p.P235L	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			4	820	-			235					Q96II7|Q9UIE7	Missense_Mutation	SNP	ENST00000345097.4	37	c.704C>T	CCDS41977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.46|17.46	3.395775|3.395775	0.62177|0.62177	.|.	.|.	ENSG00000053254|ENSG00000053254	ENST00000345097;ENST00000261302;ENST00000557258;ENST00000555353;ENST00000553353|ENST00000553840;ENST00000556916	D;D;D;D|.	0.94576|.	-3.46;-3.46;-3.32;-3.32|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.114180|.	0.64402|.	D|.	0.000009|.	T|T	0.60932|0.60932	0.2307|0.2307	L|L	0.35723|0.35723	1.085|1.085	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.994;1.0|.	P;D|.	0.91635|.	0.465;0.999|.	T|T	0.52465|0.52465	-0.8572|-0.8572	10|5	0.15066|.	T|.	0.55|.	.|.	17.7962|17.7962	0.88572|0.88572	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	235;235|.	O00409;O00409-2|.	FOXN3_HUMAN;.|.	L|W	235;235;235;235;86|85;96	ENSP00000343288:P235L;ENSP00000261302:P235L;ENSP00000452005:P235L;ENSP00000452227:P235L|.	ENSP00000261302:P235L|.	P|R	-|-	2|1	0|2	FOXN3|FOXN3	88817088|88817088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.598000|5.598000	0.67585|0.67585	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.542	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		3	40	0	0	0	1	0	3	40				
SCN9A	6335	broad.mit.edu	37	2	167089911	167089911	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:167089911G>A	ENST00000409435.1	-	20	3862	c.3863C>T	c.(3862-3864)tCc>tTc	p.S1288F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1289F|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1277F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1289F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1288					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTCCGAAGGGATTTAATGGG	0.323																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(3865-3867)tCc>tTc		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						52.0	51.0	51.0					2																	167089911		1916	4170	6086	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167089911G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.3863C>T	2.37:g.167089911G>A	ENSP00000386330:p.Ser1288Phe					SCN9A_ENST00000409672.1_Missense_Mutation_p.S1277F|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1288F|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.S1289F	p.S1289F			Q15858	SCN9A_HUMAN			21	4206	-			1288					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.3866C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	31	5.098830	0.94197	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98249	-4.82;-4.82;-4.82;-4.82	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000005	D	0.98931	0.9637	M	0.77616	2.38	0.80722	D	1	D	0.65815	0.995	D	0.73380	0.98	D	0.99831	1.1054	10	0.87932	D	0	.	20.1195	0.97955	0.0:0.0:1.0:0.0	.	1277	E7EUN6	.	F	1277;1289;1289;1288	ENSP00000386306:S1277F;ENSP00000364536:S1289F;ENSP00000304748:S1289F;ENSP00000386330:S1288F	ENSP00000304748:S1289F	S	-	2	0	SCN9A	166798157	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	9.813000	0.99286	2.759000	0.94783	0.650000	0.86243	TCC		0.323	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		5	29	0	0	0	1	0	5	29				
RNF123	63891	broad.mit.edu	37	3	49742512	49742512	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:49742512C>T	ENST00000327697.6	+	23	2199	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L	RNF123_ENST00000432042.1_Silent_p.L539L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	685					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCGCTTCCTCAGCACAGCGG	0.687																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(2053-2055)ctC>ctT		ring finger protein 123							19.0	23.0	22.0					3																	49742512		2203	4298	6501	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49742512C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.2055C>T	3.37:g.49742512C>T						RNF123_ENST00000432042.1_Silent_p.L539L	p.L685L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	23	2199	+			685					A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.2055C>T	CCDS33758.1																																																																																				0.687	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		7	13	0	0	0	1	0	7	13				
FCRL4	83417	broad.mit.edu	37	1	157556153	157556153	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:157556153C>T	ENST00000271532.1	-	6	1075	c.940G>A	c.(940-942)Gaa>Aaa	p.E314K	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	314	Ig-like C2-type 4.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCTGTGCCTTCAGCCACGGAG	0.612																																						ENST00000271532.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(940-942)Gaa>Aaa		Fc receptor-like 4							83.0	75.0	78.0					1																	157556153		2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157556153C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.940G>A	1.37:g.157556153C>T	ENSP00000271532:p.Glu314Lys					FCRL4_ENST00000448509.2_5'UTR	p.E314K	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN			6	1075	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	314			Ig-like C2-type 4.		Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.940G>A	CCDS1166.1	.	.	.	.	.	.	.	.	.	.	C	4.199	0.035716	0.08148	.	.	ENSG00000163518	ENST00000271532	D	0.83837	-1.77	4.12	2.21	0.28008	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.393012	0.18494	N	0.139573	T	0.47229	0.1434	N	0.25245	0.725	0.09310	N	1	B	0.15930	0.015	B	0.19946	0.027	T	0.37103	-0.9720	10	0.17832	T	0.49	.	5.9712	0.19353	0.0:0.7524:0.0:0.2476	.	314	Q96PJ5	FCRL4_HUMAN	K	314	ENSP00000271532:E314K	ENSP00000271532:E314K	E	-	1	0	FCRL4	155822777	0.032000	0.19561	0.196000	0.23383	0.108000	0.19459	0.005000	0.13129	0.458000	0.26988	0.467000	0.42956	GAA		0.612	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		6	122	0	0	0	1	0	6	122				
KRTAP4-11	653240	broad.mit.edu	37	17	39274446	39274446	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:39274446C>T	ENST00000391413.2	-	1	160	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	41	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGACAGTAGGT	0.667																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(121-123)cGc>cAc		keratin associated protein 4-11							19.0	22.0	21.0					17																	39274446		691	1591	2282	SO:0001583	missense	653240					keratin filament		g.chr17:39274446C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.122G>A	17.37:g.39274446C>T	ENSP00000375232:p.Arg41His						p.R41H	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	160	-		Breast(137;0.000496)	41			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.122G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	12.23	1.874625	0.33069	.	.	ENSG00000212721	ENST00000391413	T	0.01495	4.83	3.8	-5.77	0.02369	.	1.617350	0.04704	U	0.416336	T	0.03348	0.0097	M	0.85041	2.73	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.47837	-0.9086	10	0.46703	T	0.11	.	5.2821	0.15680	0.6068:0.2018:0.0:0.1915	.	41	Q9BYQ6	KR411_HUMAN	H	41	ENSP00000375232:R41H	ENSP00000375232:R41H	R	-	2	0	KRTAP4-11	36527972	0.000000	0.05858	0.018000	0.16275	0.018000	0.09664	-0.653000	0.05360	-0.527000	0.06374	-0.192000	0.12808	CGC		0.667	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			41	55	0	0	0	1	0	41	55				
TSPAN4	7106	broad.mit.edu	37	11	864504	864504	+	Missense_Mutation	SNP	C	C	T	rs373247920		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:864504C>T	ENST00000397404.1	+	5	582	c.323C>T	c.(322-324)aCg>aTg	p.T108M	TSPAN4_ENST00000397397.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000397411.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000525201.1_Missense_Mutation_p.T44M|TSPAN4_ENST00000409531.1_Missense_Mutation_p.T127M|TSPAN4_ENST00000346501.4_Missense_Mutation_p.T108M|TSPAN4_ENST00000397408.1_Missense_Mutation_p.T108M|TSPAN4_ENST00000397406.1_Missense_Mutation_p.T108M|TSPAN4_ENST00000397396.1_Missense_Mutation_p.T44M|TSPAN4_ENST00000409543.2_Missense_Mutation_p.T108M	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	108					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCGCCTACACGGACAAGGTA	0.657																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(322-324)aCg>aTg		tetraspanin 4		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	89.0	79.0	83.0		323,323,323,323,323,131,323	1.9	0.8	11		83	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense,missense	TSPAN4	NM_001025234.1,NM_001025235.1,NM_001025236.1,NM_001025237.1,NM_001025238.1,NM_001025239.1,NM_003271.4	81,81,81,81,81,81,81	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	108/239,108/239,108/239,108/239,108/239,44/175,108/239	864504	1,13001	2203	4298	6501	SO:0001583	missense	7106				protein complex assembly	integral to plasma membrane		g.chr11:864504C>T	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.323C>T	11.37:g.864504C>T	ENSP00000380553:p.Thr108Met					TSPAN4_ENST00000397406.1_Missense_Mutation_p.T108M|TSPAN4_ENST00000397408.1_Missense_Mutation_p.T108M|TSPAN4_ENST00000525201.1_Missense_Mutation_p.T44M|TSPAN4_ENST00000397411.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000346501.4_Missense_Mutation_p.T108M|TSPAN4_ENST00000397397.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000409531.1_Missense_Mutation_p.T127M|TSPAN4_ENST00000409543.2_Missense_Mutation_p.T108M|TSPAN4_ENST00000397396.1_Missense_Mutation_p.T44M	p.T108M	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	582	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	108					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.323C>T	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	5.451	0.268317	0.10349	2.27E-4	0.0	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	D;D;D;D;D;D;D;D;D;D;T;D;D	0.87103	-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-2.21;-1.32;-2.21;-2.21	2.9	1.93	0.25924	Tetraspanin, EC2 domain (1);	0.308092	0.31301	N	0.007900	T	0.75049	0.3797	N	0.16016	0.355	0.26761	N	0.969999	B	0.17038	0.02	B	0.26202	0.067	T	0.63404	-0.6645	10	0.35671	T	0.21	.	8.9951	0.36048	0.0:0.7567:0.2433:0.0	.	108	O14817	TSN4_HUMAN	M	108;108;44;108;44;108;108;44;108;44;108;127;108	ENSP00000380552:T108M;ENSP00000380558:T108M;ENSP00000380551:T44M;ENSP00000380555:T108M;ENSP00000433980:T44M;ENSP00000380554:T108M;ENSP00000386513:T108M;ENSP00000431943:T44M;ENSP00000380553:T108M;ENSP00000434818:T44M;ENSP00000324304:T108M;ENSP00000386899:T127M;ENSP00000436260:T108M	ENSP00000324304:T108M	T	+	2	0	TSPAN4	854504	0.221000	0.23642	0.834000	0.33040	0.392000	0.30506	0.765000	0.26546	0.386000	0.24997	0.313000	0.20887	ACG		0.657	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			18	82	0	0	0	1	0	18	82				
SYT16	83851	broad.mit.edu	37	14	62550927	62550927	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:62550927C>T	ENST00000430451.2	+	5	1645	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	483					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGAGGGTCTCCGCTCAGCCCA	0.517																																						ENST00000430451.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1447-1449)cCg>cTg		synaptotagmin XVI							99.0	97.0	97.0					14																	62550927		1982	4148	6130	SO:0001583	missense	83851							g.chr14:62550927C>T	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1448C>T	14.37:g.62550927C>T	ENSP00000394700:p.Pro483Leu						p.P483L	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	5	1645	+			483					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	c.1448C>T	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365415	0.24684	.	.	ENSG00000139973	ENST00000430451	T	0.04083	3.71	5.44	2.45	0.29901	.	0.438877	0.25948	N	0.027265	T	0.02230	0.0069	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42682	-0.9437	10	0.06099	T	0.92	-3.8934	5.2381	0.15458	0.4366:0.3745:0.0:0.1889	.	483	Q17RD7	SYT16_HUMAN	L	483	ENSP00000394700:P483L	ENSP00000394700:P483L	P	+	2	0	SYT16	61620680	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.294000	0.43567	0.381000	0.24851	0.643000	0.83706	CCG		0.517	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		17	70	0	0	0	1	0	17	70				
TGDS	23483	broad.mit.edu	37	13	95243181	95243181	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr13:95243181G>C	ENST00000261296.5	-	4	359	c.239C>G	c.(238-240)tCt>tGt	p.S80C	TGDS_ENST00000498294.1_5'UTR	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	80					nucleotide-sugar metabolic process (GO:0009225)		coenzyme binding (GO:0050662)|dTDP-glucose 4,6-dehydratase activity (GO:0008460)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CACAAAGTGAGAATCACATAT	0.353																																						ENST00000261296.5																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(238-240)tCt>tGt		TDP-glucose 4,6-dehydratase							118.0	117.0	117.0					13																	95243181		2203	4300	6503	SO:0001583	missense	23483				cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding	g.chr13:95243181G>C	AF048686	CCDS9471.1	13q32.1	2012-02-22			ENSG00000088451	ENSG00000088451	4.2.1.46	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	20324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 2E, member 1"""					19027726	Standard	NM_014305		Approved	TDPGD, SDR2E1	uc001vlw.3	O95455	OTTHUMG00000046308	ENST00000261296.5:c.239C>G	13.37:g.95243181G>C	ENSP00000261296:p.Ser80Cys					TGDS_ENST00000498294.1_5'UTR	p.S80C	NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN			4	359	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		80					Q05DQ3|Q2TU31|Q5T3Z2|Q9H1T9	Missense_Mutation	SNP	ENST00000261296.5	37	c.239C>G	CCDS9471.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682101	0.47991	.	.	ENSG00000088451	ENST00000261296	D	0.93906	-3.31	5.48	4.63	0.57726	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.306378	0.36167	N	0.002747	D	0.92038	0.7477	L	0.53617	1.68	0.31708	N	0.639875	P	0.39831	0.69	B	0.43701	0.428	D	0.92722	0.6192	10	0.72032	D	0.01	.	11.2277	0.48892	0.1468:0.0:0.8532:0.0	.	80	O95455	TGDS_HUMAN	C	80	ENSP00000261296:S80C	ENSP00000261296:S80C	S	-	2	0	TGDS	94041182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.498000	0.60373	1.322000	0.45245	0.561000	0.74099	TCT		0.353	TGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106904.2	NM_014305		17	70	0	0	0	1	0	17	70				
ESPNP	284729	broad.mit.edu	37	1	17030559	17030559	+	RNA	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:17030559G>C	ENST00000492551.1	-	0	776					NR_026567.1				espin pseudogene																		CCGTGGTGTTGGGTGAGGACA	0.627																																						ENST00000492551.1																			0																																																			284729							g.chr1:17030559G>C	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17030559G>C								NR_026567.1						0	776	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.627	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			19	94	0	0	0	1	0	19	94				
ALDH1L1	10840	broad.mit.edu	37	3	125877269	125877269	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:125877269C>T	ENST00000393434.2	-	3	690	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.R124Q|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.R114Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.R114Q|ALDH1L1_ENST00000413612.1_5'Flank|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.R114Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	114	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CGAGGCCCCTCGGTGCCTAGG	0.577																																						ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(340-342)cGa>cAa		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						64.0	54.0	57.0					3																	125877269		2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125877269C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.341G>A	3.37:g.125877269C>T	ENSP00000377083:p.Arg114Gln					ALDH1L1_ENST00000472186.1_Missense_Mutation_p.R114Q|ALDH1L1_ENST00000455064.2_Intron|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.R124Q|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.R114Q|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.R114Q	p.R114Q	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	3	690	-			114			GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.341G>A	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163670	0.94727	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.84	4.84	0.62591	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.93851	0.8033	H	0.98936	4.375	0.80722	D	1	B;D;D;D	0.89917	0.019;1.0;1.0;1.0	B;D;D;D	0.77004	0.006;0.989;0.976;0.989	D	0.96047	0.9028	10	0.87932	D	0	.	15.4491	0.75259	0.0:1.0:0.0:0.0	.	114;166;21;114	E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;AL1L1_HUMAN	Q	124;114;114;114;114;114;114;114	ENSP00000273450:R124Q;ENSP00000420293:R114Q;ENSP00000395881:R114Q;ENSP00000377083:R114Q;ENSP00000377081:R114Q;ENSP00000418711:R114Q;ENSP00000419826:R114Q;ENSP00000419955:R114Q	ENSP00000273450:R124Q	R	-	2	0	ALDH1L1	127359959	1.000000	0.71417	0.993000	0.49108	0.761000	0.43186	5.695000	0.68279	2.525000	0.85131	0.491000	0.48974	CGA		0.577	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		3	18	0	0	0	1	0	3	18				
KRT16	3868	broad.mit.edu	37	17	39768535	39768535	+	Missense_Mutation	SNP	G	G	A	rs200704257		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:39768535G>A	ENST00000301653.4	-	1	470	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	136	Coil 1A.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCCAGAGCACGCACCTTGTCC	0.577																																						ENST00000301653.4																			0				NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(406-408)Cgt>Tgt		keratin 16							87.0	97.0	94.0					17																	39768535		2202	4279	6481	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768535G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.406C>T	17.37:g.39768535G>A	ENSP00000301653:p.Arg136Cys						p.R136C	NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN			1	470	-		Breast(137;0.000307)	136			Coil 1A.|Rod.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.406C>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.463155	0.63513	.	.	ENSG00000186832	ENST00000301653	D	0.92595	-3.07	4.56	1.4	0.22301	Filament (1);	0.000000	0.51477	D	0.000081	D	0.96522	0.8865	H	0.95884	3.735	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.94646	0.7835	10	0.87932	D	0	.	7.5492	0.27786	0.1448:0.0:0.7213:0.1338	.	136	P08779	K1C16_HUMAN	C	136	ENSP00000301653:R136C	ENSP00000301653:R136C	R	-	1	0	KRT16	37022061	1.000000	0.71417	0.978000	0.43139	0.652000	0.38707	3.761000	0.55242	0.256000	0.21614	-0.258000	0.10820	CGT		0.577	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557		4	185	0	0	0	1	0	4	185				
SYNJ2	8871	broad.mit.edu	37	6	158516916	158516916	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:158516916G>A	ENST00000355585.4	+	27	4086	c.4011G>A	c.(4009-4011)aaG>aaA	p.K1337K	SYNJ2_ENST00000367112.1_Silent_p.K422K|SYNJ2_ENST00000367122.2_Silent_p.K1292K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1337					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGAGGAGGAAGAAGTCAGCCC	0.647																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(4009-4011)aaG>aaA		synaptojanin 2							36.0	43.0	40.0					6																	158516916		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516916G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.4011G>A	6.37:g.158516916G>A						SYNJ2_ENST00000367122.2_Silent_p.K1292K|SYNJ2_ENST00000367112.1_Silent_p.K422K	p.K1337K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	4086	+			1337					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.4011G>A	CCDS5254.1																																																																																				0.647	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			22	89	0	0	0	1	0	22	89				
PLCD1	5333	broad.mit.edu	37	3	38049775	38049775	+	Silent	SNP	G	G	A	rs143935807		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:38049775G>A	ENST00000334661.4	-	13	2208	c.1986C>T	c.(1984-1986)ggC>ggT	p.G662G	PLCD1_ENST00000463876.1_Silent_p.G683G	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	662	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCCGGCTCACGCCATGGATCT	0.567																																						ENST00000463876.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24						c.(2047-2049)ggC>ggT		phospholipase C, delta 1		G	,	1,4405	2.1+/-5.4	0,1,2202	94.0	99.0	98.0		2049,1986	-8.3	0.4	3	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLCD1	NM_001130964.1,NM_006225.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	683/778,662/757	38049775	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38049775G>A		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1986C>T	3.37:g.38049775G>A						PLCD1_ENST00000334661.4_Silent_p.G662G	p.G683G	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	13	2402	-			662			C2.		B3KR14|Q86VN8	Silent	SNP	ENST00000334661.4	37	c.2049C>T	CCDS2671.1																																																																																				0.567	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			43	124	0	0	0	1	0	43	124				
AMER1	139285	broad.mit.edu	37	X	63410190	63410190	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:63410190T>A	ENST00000330258.3	-	2	3249	c.2977A>T	c.(2977-2979)Acc>Tcc	p.T993S	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	993	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									ATGCAACAGGTTGCCTGCCTA	0.567																																						ENST00000330258.3																			67	Whole gene deletion(67)	p.0?(67)	kidney(65)|ovary(1)|large_intestine(1)								c.(2977-2979)Acc>Tcc		APC membrane recruitment protein 1							43.0	46.0	45.0					X																	63410190		2060	4176	6236	SO:0001583	missense	139285							g.chrX:63410190T>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2977A>T	X.37:g.63410190T>A	ENSP00000329117:p.Thr993Ser					AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	p.T993S	NM_152424.3	NP_689637.3					2	3249	-								A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.2977A>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	T	6.487	0.457967	0.12342	.	.	ENSG00000184675	ENST00000330258	T	0.45276	0.9	4.85	-0.766	0.11020	.	.	.	.	.	T	0.18923	0.0454	N	0.14661	0.345	0.46981	D	0.999277	B	0.06786	0.001	B	0.04013	0.001	T	0.11108	-1.0601	8	.	.	.	0.5491	4.0331	0.09717	0.1662:0.435:0.0:0.3988	.	993	Q5JTC6	F123B_HUMAN	S	993	ENSP00000329117:T993S	.	T	-	1	0	FAM123B	63326915	0.350000	0.24878	0.028000	0.17463	0.050000	0.14768	0.092000	0.15066	-0.395000	0.07715	-0.553000	0.04205	ACC		0.567	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		10	22	0	0	0	1	0	10	22				
RPL18A	6142	broad.mit.edu	37	19	17972909	17972909	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:17972909G>C	ENST00000222247.5	+	3	286	c.205G>C	c.(205-207)Gag>Cag	p.E69Q	RPL18A_ENST00000599870.1_Missense_Mutation_p.E40Q|RPL18A_ENST00000600147.1_Missense_Mutation_p.E69Q|RPL18A_ENST00000599898.1_Missense_Mutation_p.E30Q|SNORA68_ENST00000384437.1_RNA	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	69					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GCAGGTGTTTGAGAAGTCCCC	0.607																																						ENST00000600147.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(205-207)Gag>Cag		ribosomal protein L18a							48.0	52.0	50.0					19																	17972909		2203	4300	6503	SO:0001583	missense	6142				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr19:17972909G>C	AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.205G>C	19.37:g.17972909G>C	ENSP00000222247:p.Glu69Gln					RPL18A_ENST00000599898.1_Missense_Mutation_p.E30Q|RPL18A_ENST00000222247.5_Missense_Mutation_p.E69Q|RPL18A_ENST00000599870.1_Missense_Mutation_p.E40Q	p.E69Q			Q02543	RL18A_HUMAN			3	241	+			69						Missense_Mutation	SNP	ENST00000222247.5	37	c.205G>C	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488687	0.64074	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.19	3.15	0.36227	Ribosomal protein L18a/LX (1);	0.000000	0.85682	U	0.000000	T	0.80844	0.4701	M	0.93678	3.445	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	D	0.83443	0.0044	9	0.87932	D	0	.	9.9959	0.41898	0.1021:0.0:0.8979:0.0	.	69	Q02543	RL18A_HUMAN	Q	69	.	ENSP00000222247:E69Q	E	+	1	0	RPL18A	17833909	1.000000	0.71417	0.857000	0.33713	0.545000	0.35147	9.577000	0.98196	0.902000	0.36520	-0.251000	0.11542	GAG		0.607	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980		16	46	0	0	0	1	0	16	46				
CAPS2	84698	broad.mit.edu	37	12	75706697	75706697	+	Splice_Site	SNP	T	T	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:75706697T>A	ENST00000409445.3	-	8	845		c.e8-2		CAPS2_ENST00000393284.3_Splice_Site|CAPS2_ENST00000442339.2_Splice_Site|CAPS2_ENST00000409799.1_Splice_Site|CAPS2_ENST00000409004.1_Splice_Site	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2								calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CACAATTTCCTGGGAAGATTA	0.343																																						ENST00000393284.3																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						c.e7-2		calcyphosine 2							62.0	61.0	61.0					12																	75706697		2203	4300	6503	SO:0001630	splice_region_variant	84698						calcium ion binding	g.chr12:75706697T>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.649-2A>T	12.37:g.75706697T>A						CAPS2_ENST00000409445.3_Splice_Site|CAPS2_ENST00000442339.2_Splice_Site|CAPS2_ENST00000409799.1_Splice_Site|CAPS2_ENST00000409004.1_Splice_Site				Q9BXY5	CAYP2_HUMAN			7	554	-								Q6PH84|Q8N242|Q8NAY5	Splice_Site	SNP	ENST00000409445.3	37		CCDS9008.2	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392356	0.62066	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000552497;ENST00000436898	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1902	0.54266	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPS2	73992964	1.000000	0.71417	0.939000	0.37840	0.917000	0.54804	4.549000	0.60726	1.820000	0.53075	0.528000	0.53228	.		0.343	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2		Intron	5	24	0	0	0	1	0	5	24				
ZSWIM8	23053	broad.mit.edu	37	10	75556586	75556586	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr10:75556586A>G	ENST00000605216.1	+	16	3290	c.3073A>G	c.(3073-3075)Agt>Ggt	p.S1025G	ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1025G|ZSWIM8-AS1_ENST00000456638.2_RNA|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S1030G|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1030G|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S992G	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1025							zinc ion binding (GO:0008270)										ACAGACGCTGAGTTCTTTCTA	0.567																																						ENST00000604729.1																			0											c.(3088-3090)Agt>Ggt		zinc finger, SWIM-type containing 8							67.0	71.0	70.0					10																	75556586		2029	4211	6240	SO:0001583	missense	23053							g.chr10:75556586A>G	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3073A>G	10.37:g.75556586A>G	ENSP00000474748:p.Ser1025Gly					ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1030G|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S992G|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.S1025G|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1025G	p.S1030G							16	3385	+								B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.3088A>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	16.13|16.13|16.13	3.036518|3.036518|3.036518	0.54896|0.54896|0.54896	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000433366|ENST00000398706|ENST00000412198	.|T|.	.|0.54279|.	.|0.58|.	5.3|5.3|5.3	5.3|5.3|5.3	0.74995|0.74995|0.74995	.|.|.	.|0.000000|.	.|0.85682|.	.|U|.	.|0.000000|.	T|T|.	0.69904|0.69904|.	0.3163|0.3163|.	L|L|L	0.57536|0.57536|0.57536	1.79|1.79|1.79	0.54753|0.54753|0.54753	D|D|D	0.999989|0.999989|0.999989	.|D;D;D;D|.	.|0.56287|.	.|0.974;0.975;0.974;0.974|.	.|D;P;D;D|.	.|0.67725|.	.|0.953;0.758;0.953;0.953|.	T|T|.	0.68773|0.68773|.	-0.5320|-0.5320|.	5|10|.	.|0.62326|.	.|D|.	.|0.03|.	-3.7495|-3.7495|-3.7495	15.2489|15.2489|15.2489	0.73529|0.73529|0.73529	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|1025;1037;1025;1030|.	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4|.	.|K0913_HUMAN;.;.;.|.	G|G|W	740|1030|299	.|ENSP00000381693:S1030G|.	.|ENSP00000381693:S1030G|.	E|S|X	+|+|+	2|1|3	0|0|0	KIAA0913|KIAA0913|KIAA0913	75226592|75226592|75226592	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.985000|0.985000|0.985000	0.73830|0.73830|0.73830	9.134000|9.134000|9.134000	0.94467|0.94467|0.94467	2.009000|2.009000|2.009000	0.58944|0.58944|0.58944	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAG|AGT|TGA		0.567	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		13	99	0	0	0	1	0	13	99				
NPR1	4881	broad.mit.edu	37	1	153659173	153659173	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:153659173G>A	ENST00000368680.3	+	11	2282	c.1810G>A	c.(1810-1812)Gac>Aac	p.D604N		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	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)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	AGCCTGCACCGACCCCCCCAA	0.592																																					Pancreas(141;1349 1870 15144 15830 40702)	ENST00000368680.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(1810-1812)Gac>Aac		natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						97.0	87.0	90.0					1																	153659173		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153659173G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1810G>A	1.37:g.153659173G>A	ENSP00000357669:p.Asp604Asn						p.D604N	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		11	2282	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		604			Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1810G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.672784	0.67928	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.44881	0.91	4.11	3.2	0.36748	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128927	0.49305	D	0.000157	T	0.42832	0.1220	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.42816	-0.9429	10	0.62326	D	0.03	.	9.8733	0.41189	0.1018:0.0:0.8982:0.0	.	83;604	B7Z4Y7;P16066	.;ANPRA_HUMAN	N	604;83	ENSP00000357669:D604N	ENSP00000357669:D604N	D	+	1	0	NPR1	151925797	1.000000	0.71417	0.850000	0.33497	0.675000	0.39556	9.485000	0.97942	1.080000	0.41073	-0.379000	0.06801	GAC		0.592	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906		30	142	0	0	0	1	0	30	142				
ZCWPW2	152098	broad.mit.edu	37	3	28454850	28454850	+	Silent	SNP	T	T	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:28454850T>A	ENST00000383768.2	+	3	479	c.291T>A	c.(289-291)ccT>ccA	p.P97P	ZCWPW2_ENST00000421010.1_Silent_p.P97P			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	97							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						CACAGCTCCCTCTTGGAAGCC	0.363																																						ENST00000383768.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						c.(289-291)ccT>ccA		zinc finger, CW type with PWWP domain 2							120.0	120.0	120.0					3																	28454850		2203	4300	6503	SO:0001819	synonymous_variant	152098						zinc ion binding	g.chr3:28454850T>A	BC065764	CCDS33723.1	3p23	2005-08-22			ENSG00000206559	ENSG00000206559			23574	protein-coding gene	gene with protein product						14607086	Standard	XM_005264892		Approved	ZCW2	uc003cei.3	Q504Y3	OTTHUMG00000155705	ENST00000383768.2:c.291T>A	3.37:g.28454850T>A						ZCWPW2_ENST00000421010.1_Silent_p.P97P	p.P97P			Q504Y3	ZCPW2_HUMAN			3	479	+			97						Silent	SNP	ENST00000383768.2	37	c.291T>A	CCDS33723.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.387274	0.25031	.	.	ENSG00000206559	ENST00000428875	.	.	.	5.41	4.23	0.50019	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54642	-0.8263	4	.	.	.	-7.5573	8.6429	0.33987	0.1702:0.0:0.0:0.8298	.	.	.	.	T	81	.	.	S	+	1	0	ZCWPW2	28429854	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.010000	0.40913	0.854000	0.35336	0.533000	0.62120	TCT		0.363	ZCWPW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341318.1	XM_087384		13	131	0	0	0	1	0	13	131				
SKI	6497	broad.mit.edu	37	1	2235348	2235348	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:2235348G>A	ENST00000378536.4	+	4	1353	c.1281G>A	c.(1279-1281)caG>caA	p.Q427Q		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	SKI proto-oncogene	427					anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CGGCCCAGCAGAAGGTTGTGA	0.687																																					Ovarian(177;144 1678 13697 20086 27838 40755)	ENST00000378536.4																			0				central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10						c.(1279-1281)caG>caA		v-ski avian sarcoma viral oncogene homolog							13.0	18.0	16.0					1																	2235348		2185	4281	6466	SO:0001819	synonymous_variant	6497				anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr1:2235348G>A	X15218	CCDS39.1	1p36.33	2014-06-25	2014-06-25		ENSG00000157933	ENSG00000157933		"""SKI transcriptional corepressors"""	10896	protein-coding gene	gene with protein product		164780	"""v-ski avian sarcoma viral oncogene homolog"""			2762147	Standard	NM_003036		Approved		uc001aja.4	P12755	OTTHUMG00000001407	ENST00000378536.4:c.1281G>A	1.37:g.2235348G>A							p.Q427Q	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN		Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)	4	1353	+	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)		427					Q5SYT7	Silent	SNP	ENST00000378536.4	37	c.1281G>A	CCDS39.1																																																																																				0.687	SKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004070.1	NM_003036		5	22	0	0	0	1	0	5	22				
KMT2C	58508	broad.mit.edu	37	7	151904466	151904466	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:151904466G>A	ENST00000262189.6	-	24	3978	c.3760C>T	c.(3760-3762)Cgg>Tgg	p.R1254W	KMT2C_ENST00000355193.2_Missense_Mutation_p.R1254W	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1254					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACAGCTTCCCGCTCAGGACTA	0.383																																						ENST00000355193.2																			0											c.(3760-3762)Cgg>Tgg		lysine (K)-specific methyltransferase 2C							111.0	102.0	105.0					7																	151904466		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151904466G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3760C>T	7.37:g.151904466G>A	ENSP00000262189:p.Arg1254Trp					KMT2C_ENST00000262189.6_Missense_Mutation_p.R1254W	p.R1254W							24	3978	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3760C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981550	0.74474	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.85013	-1.93;-1.93	5.73	5.73	0.89815	.	0.000000	0.41500	D	0.000876	D	0.91831	0.7415	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91974	0.5589	10	0.87932	D	0	.	19.914	0.97034	0.0:0.0:1.0:0.0	.	1254;315	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	W	1254	ENSP00000262189:R1254W;ENSP00000347325:R1254W	ENSP00000262189:R1254W	R	-	1	2	MLL3	151535399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.567000	0.60850	2.712000	0.92718	0.557000	0.71058	CGG		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	72	0	0	0	1	0	4	72				
CX3CL1	6376	broad.mit.edu	37	16	57416888	57416888	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:57416888C>A	ENST00000006053.6	+	3	1249	c.1138C>A	c.(1138-1140)Ctt>Att	p.L380I	CX3CL1_ENST00000565912.1_Missense_Mutation_p.L342I|CX3CL1_ENST00000563383.1_Missense_Mutation_p.L386I	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	380					angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCGGAGGGCCTTCGCTACAT	0.587																																						ENST00000565912.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(1024-1026)Ctt>Att		chemokine (C-X3-C motif) ligand 1							124.0	130.0	128.0					16																	57416888		2198	4300	6498	SO:0001583	missense	6376				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity	g.chr16:57416888C>A	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.1138C>A	16.37:g.57416888C>A	ENSP00000006053:p.Leu380Ile					CX3CL1_ENST00000563383.1_Missense_Mutation_p.L386I|CX3CL1_ENST00000006053.6_Missense_Mutation_p.L380I	p.L342I			P78423	X3CL1_HUMAN			2	3730	+			380					O00672	Missense_Mutation	SNP	ENST00000006053.6	37	c.1024C>A	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520199	0.44866	.	.	ENSG00000006210	ENST00000006053	T	0.14516	2.5	5.19	4.23	0.50019	.	0.309737	0.17946	N	0.156678	T	0.13372	0.0324	N	0.24115	0.695	0.32894	D	0.512236	P	0.50943	0.94	P	0.47134	0.539	T	0.11251	-1.0595	10	0.87932	D	0	-18.9536	11.1574	0.48495	0.1843:0.8157:0.0:0.0	.	380	P78423	X3CL1_HUMAN	I	380	ENSP00000006053:L380I	ENSP00000006053:L380I	L	+	1	0	CX3CL1	55974389	1.000000	0.71417	0.892000	0.35008	0.194000	0.23727	2.067000	0.41461	1.160000	0.42584	0.558000	0.71614	CTT		0.587	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	NM_002996		19	103	1	0	5.03518e-11	1	5.62008e-11	19	103				
OLFML1	283298	broad.mit.edu	37	11	7530749	7530749	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:7530749G>A	ENST00000329293.3	+	3	933	c.539G>A	c.(538-540)gGa>gAa	p.G180E	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000528758.1_3'UTR|OLFML1_ENST00000530135.1_Missense_Mutation_p.G180E	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	180	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.					extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTATTAATTGGATCCAGAAAC	0.423																																						ENST00000329293.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24						c.(538-540)gGa>gAa		olfactomedin-like 1							108.0	106.0	107.0					11																	7530749		2201	4296	6497	SO:0001583	missense	283298					extracellular region		g.chr11:7530749G>A	AY358591	CCDS7779.1	11p15	2008-02-05			ENSG00000183801	ENSG00000183801			24473	protein-coding gene	gene with protein product							Standard	NM_198474		Approved	UNQ564	uc001mfi.3	Q6UWY5	OTTHUMG00000165527	ENST00000329293.3:c.539G>A	11.37:g.7530749G>A	ENSP00000332511:p.Gly180Glu					OLFML1_ENST00000530135.1_Missense_Mutation_p.G180E|OLFML1_ENST00000528758.1_3'UTR|CTD-2516F10.2_ENST00000530201.1_RNA	p.G180E	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN		Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	3	933	+			180			Olfactomedin-like.		B4DP03|Q569G4	Missense_Mutation	SNP	ENST00000329293.3	37	c.539G>A	CCDS7779.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159668	0.78226	.	.	ENSG00000183801	ENST00000530135;ENST00000329293	D;D	0.88975	-2.45;-2.45	5.78	4.86	0.63082	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.92903	0.7742	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.92908	0.6345	10	0.87932	D	0	.	11.8505	0.52410	0.0833:0.0:0.9167:0.0	.	44;180	B4DN61;Q6UWY5	.;OLFL1_HUMAN	E	180	ENSP00000433455:G180E;ENSP00000332511:G180E	ENSP00000332511:G180E	G	+	2	0	OLFML1	7487325	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.614000	0.82996	2.724000	0.93272	0.563000	0.77884	GGA		0.423	OLFML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384656.1	NM_198474		28	95	0	0	0	1	0	28	95				
CACNB4	785	broad.mit.edu	37	2	152954850	152954850	+	Silent	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:152954850G>C	ENST00000539935.1	-	2	208	c.141C>G	c.(139-141)ctC>ctG	p.L47L	CACNB4_ENST00000427385.1_Silent_p.L29L|CACNB4_ENST00000201943.5_Silent_p.L47L|AC079790.2_ENST00000420365.1_RNA	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	47					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATACCTGTCTGAGGATGAAGC	0.677																																						ENST00000539935.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(139-141)ctC>ctG		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						65.0	71.0	69.0					2																	152954850		1994	4170	6164	SO:0001819	synonymous_variant	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152954850G>C	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.141C>G	2.37:g.152954850G>C						CACNB4_ENST00000201943.5_Silent_p.L47L|CACNB4_ENST00000427385.1_Silent_p.L29L|AC079790.2_ENST00000420365.1_RNA	p.L47L	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	2	208	-			47					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	c.141C>G	CCDS46426.1																																																																																				0.677	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		5	147	0	0	0	1	0	5	147				
CNTRL	11064	broad.mit.edu	37	9	123908403	123908403	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr9:123908403G>C	ENST00000373855.1	+	23	3588	c.3328G>C	c.(3328-3330)Gaa>Caa	p.E1110Q	CNTRL_ENST00000373847.1_Missense_Mutation_p.E558Q|CNTRL_ENST00000373850.1_Missense_Mutation_p.E558Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1110Q			Q7Z7A1	CNTRL_HUMAN	centriolin	1110					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGGAGGCTTTGAAAATGTTTT	0.338																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(3328-3330)Gaa>Caa		centriolin							53.0	54.0	53.0					9																	123908403		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123908403G>C	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3328G>C	9.37:g.123908403G>C	ENSP00000362962:p.Glu1110Gln					CNTRL_ENST00000373850.1_Missense_Mutation_p.E558Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1110Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.E558Q	p.E1110Q			Q7Z7A1	CNTRL_HUMAN			23	3588	+			1110					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.3328G>C	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289892	0.59976	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.36520	1.56;1.56;1.25;1.28	5.3	5.3	0.74995	.	.	.	.	.	T	0.56529	0.1991	M	0.64997	1.995	0.39336	D	0.965496	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.49513	-0.8932	9	0.16420	T	0.52	.	18.3035	0.90172	0.0:0.0:1.0:0.0	.	1110;1110	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	Q	1110;1110;1110;592;558;558	ENSP00000362962:E1110Q;ENSP00000238341:E1110Q;ENSP00000362956:E558Q;ENSP00000362953:E558Q	ENSP00000238341:E1110Q	E	+	1	0	CNTRL	122948224	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	4.784000	0.62411	2.628000	0.89032	0.650000	0.86243	GAA		0.338	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		10	33	0	0	0	1	0	10	33				
VPS13B	157680	broad.mit.edu	37	8	100866145	100866145	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:100866145G>C	ENST00000358544.2	+	56	10714	c.10603G>C	c.(10603-10605)Gac>Cac	p.D3535H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D3510H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3535					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATACGTGGAAGACACATTTGT	0.418																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(10603-10605)Gac>Cac		vacuolar protein sorting 13 homolog B (yeast)							114.0	117.0	116.0					8																	100866145		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100866145G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10603G>C	8.37:g.100866145G>C	ENSP00000351346:p.Asp3535His					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.D3510H	p.D3535H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		56	10714	+	Breast(36;3.73e-07)		3535					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10603G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443928	0.83993	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.77620	-1.1;-1.11	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.86969	0.6061	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.87645	0.2524	10	0.87932	D	0	.	19.4729	0.94971	0.0:0.0:1.0:0.0	.	3510;3535	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	3510;3535	ENSP00000349685:D3510H;ENSP00000351346:D3535H	ENSP00000349685:D3510H	D	+	1	0	VPS13B	100935321	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	8.755000	0.91646	2.596000	0.87737	0.555000	0.69702	GAC		0.418	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		37	388	0	0	0	1	0	37	388				
KCNQ3	3786	broad.mit.edu	37	8	133153535	133153535	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:133153535G>C	ENST00000388996.4	-	10	1726	c.1306C>G	c.(1306-1308)Cgt>Ggt	p.R436G	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R436G|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R316G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	436					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TTGCTACCACGAGGATTAGAA	0.398																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1306-1308)Cgt>Ggt		potassium voltage-gated channel, KQT-like subfamily, member 3							97.0	102.0	100.0					8																	133153535		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133153535G>C	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1306C>G	8.37:g.133153535G>C	ENSP00000373648:p.Arg436Gly					KCNQ3_ENST00000521134.1_Missense_Mutation_p.R316G|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R436G	p.R436G	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1726	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		436					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1306C>G	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283583	0.59867	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99287	-5.69;-5.63;-5.68	5.63	5.63	0.86233	.	0.120054	0.53938	D	0.000043	D	0.99001	0.9659	L	0.50333	1.59	0.45962	D	0.998789	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.98691	1.0696	10	0.87932	D	0	-7.1322	12.1865	0.54243	0.0:0.0:0.8297:0.1703	.	436;436	E7ET42;O43525	.;KCNQ3_HUMAN	G	436;316;436;425;315	ENSP00000373648:R436G;ENSP00000429799:R316G;ENSP00000428790:R436G	ENSP00000373648:R436G	R	-	1	0	KCNQ3	133222717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.199000	0.42715	2.652000	0.90054	0.655000	0.94253	CGT		0.398	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		34	70	0	0	0	1	0	34	70				
CHN1	1123	broad.mit.edu	37	2	175677211	175677211	+	Splice_Site	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:175677211C>G	ENST00000409900.3	-	9	1026		c.e9-1		CHN1_ENST00000409156.3_Splice_Site|CHN1_ENST00000488080.1_Splice_Site|CHN1_ENST00000295497.7_Splice_Site|CHN1_ENST00000409597.1_Splice_Site	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1						ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AAACCACAATCTAAGAAAAGA	0.368			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.e9-1		chimerin 1							91.0	81.0	84.0					2																	175677211		1849	4108	5957	SO:0001630	splice_region_variant	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175677211C>G		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.713-1G>C	2.37:g.175677211C>G						CHN1_ENST00000409156.3_Splice_Site|CHN1_ENST00000409597.1_Splice_Site|CHN1_ENST00000295497.7_Splice_Site|CHN1_ENST00000488080.1_Splice_Site		NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		9	1026	-								A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Splice_Site	SNP	ENST00000409900.3	37		CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	18.86	3.713663	0.68730	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238;ENST00000444573	.	.	.	6.06	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6281	0.68638	0.0:0.9305:0.0:0.0695	.	.	.	.	.	-1	.	.	.	-	.	.	CHN1	175385457	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	7.814000	0.86154	1.565000	0.49641	0.655000	0.94253	.		0.368	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822	Intron	12	48	0	0	0	1	0	12	48				
PDE1C	5137	broad.mit.edu	37	7	31855619	31855619	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:31855619C>G	ENST00000396191.1	-	15	2187	c.1732G>C	c.(1732-1734)Gga>Cga	p.G578R	PDE1C_ENST00000396184.3_Missense_Mutation_p.G578R|PDE1C_ENST00000396193.1_Missense_Mutation_p.G638R|PDE1C_ENST00000321453.7_Missense_Mutation_p.G578R|PDE1C_ENST00000396182.2_Missense_Mutation_p.G578R|PDE1C_ENST00000479980.1_5'UTR	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	578					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GCCCGTGTTCCATTGACTTGA	0.473																																						ENST00000396184.3																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81						c.(1732-1734)Gga>Cga		phosphodiesterase 1C, calmodulin-dependent 70kDa							271.0	268.0	269.0					7																	31855619		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31855619C>G	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1732G>C	7.37:g.31855619C>G	ENSP00000379494:p.Gly578Arg					PDE1C_ENST00000396191.1_Missense_Mutation_p.G578R|PDE1C_ENST00000321453.7_Missense_Mutation_p.G578R|PDE1C_ENST00000396182.2_Missense_Mutation_p.G578R|PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000396193.1_Missense_Mutation_p.G638R	p.G578R	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		16	1936	-			578					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.1732G>C	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675261	0.29783	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-0.94;-0.94	5.34	4.45	0.53987	.	1.624480	0.03334	N	0.193795	T	0.72716	0.3495	L	0.29908	0.895	0.09310	N	0.999996	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.09377	0.004;0.0;0.0	T	0.55535	-0.8126	10	0.29301	T	0.29	.	14.8494	0.70284	0.0:0.8553:0.1447:0.0	.	578;638;578	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	R	638;578;578;578;578	ENSP00000379496:G638R;ENSP00000379494:G578R;ENSP00000318105:G578R;ENSP00000379487:G578R;ENSP00000379485:G578R	ENSP00000318105:G578R	G	-	1	0	PDE1C	31822144	0.998000	0.40836	0.424000	0.26647	0.031000	0.12232	5.129000	0.64739	1.470000	0.48102	-0.175000	0.13238	GGA		0.473	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			20	228	0	0	0	1	0	20	228				
ARHGAP6	395	broad.mit.edu	37	X	11206869	11206869	+	Silent	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:11206869C>G	ENST00000337414.4	-	4	1928	c.1056G>C	c.(1054-1056)ccG>ccC	p.P352P	ARHGAP6_ENST00000534860.1_Silent_p.P177P|ARHGAP6_ENST00000380732.3_Silent_p.P384P|ARHGAP6_ENST00000380736.1_Silent_p.P149P|ARHGAP6_ENST00000380718.1_Silent_p.P352P|ARHGAP6_ENST00000303025.6_Silent_p.P149P|ARHGAP6_ENST00000413512.3_Silent_p.P161P	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	352					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCGAGGAGCCGGTTCCGGGG	0.468																																						ENST00000337414.4																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1054-1056)ccG>ccC		Rho GTPase activating protein 6							83.0	76.0	78.0					X																	11206869		2203	4300	6503	SO:0001819	synonymous_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11206869C>G	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1056G>C	X.37:g.11206869C>G						ARHGAP6_ENST00000413512.3_Silent_p.P161P|ARHGAP6_ENST00000534860.1_Silent_p.P177P|ARHGAP6_ENST00000380736.1_Silent_p.P149P|ARHGAP6_ENST00000380718.1_Silent_p.P352P|ARHGAP6_ENST00000380732.3_Silent_p.P384P|ARHGAP6_ENST00000303025.6_Silent_p.P149P	p.P352P	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN			4	1928	-			352					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	ENST00000337414.4	37	c.1056G>C	CCDS14140.1																																																																																				0.468	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		19	33	0	0	0	1	0	19	33				
OPA1	4976	broad.mit.edu	37	3	193382668	193382668	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:193382668G>A	ENST00000392438.3	+	25	2730		c.e25-1		OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361828.2_Splice_Site|OPA1_ENST00000361510.2_Splice_Site|OPA1_ENST00000361715.2_Splice_Site	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TCTCATTTTAGATTAAGGATA	0.303																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.e27-1		optic atrophy 1 (autosomal dominant)							59.0	62.0	61.0					3																	193382668		2202	4292	6494	SO:0001630	splice_region_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193382668G>A	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.2497-1G>A	3.37:g.193382668G>A						OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361828.2_Splice_Site|OPA1_ENST00000361715.2_Splice_Site|OPA1_ENST00000392438.3_Splice_Site		NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	27	2895	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)							D3DNW4	Splice_Site	SNP	ENST00000392438.3	37		CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406694	0.83230	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150;ENST00000445863	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8627	0.92280	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OPA1	194865362	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.869000	0.99810	2.704000	0.92352	0.467000	0.42956	.		0.303	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837	Intron	6	48	0	0	0	1	0	6	48				
NAP1L1	4673	broad.mit.edu	37	12	76449836	76449836	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:76449836C>T	ENST00000261182.8	-	7	1021	c.535G>A	c.(535-537)Gac>Aac	p.D179N	NAP1L1_ENST00000393263.3_Missense_Mutation_p.D179N|NAP1L1_ENST00000547993.1_5'UTR|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D111N|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D179N|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D190N|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D138N|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D137N|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D179N|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D116N	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	179					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				CTGAGCAAGTCAACATTCTTA	0.328																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(535-537)Gac>Aac		nucleosome assembly protein 1-like 1							83.0	80.0	81.0					12																	76449836		2203	4299	6502	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76449836C>T		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.535G>A	12.37:g.76449836C>T	ENSP00000261182:p.Asp179Asn					NAP1L1_ENST00000393263.3_Missense_Mutation_p.D179N|NAP1L1_ENST00000535020.2_Missense_Mutation_p.D179N|NAP1L1_ENST00000552342.1_Missense_Mutation_p.D190N|NAP1L1_ENST00000548044.1_Missense_Mutation_p.D138N|NAP1L1_ENST00000549596.1_Missense_Mutation_p.D179N|NAP1L1_ENST00000431879.3_Missense_Mutation_p.D111N|NAP1L1_ENST00000542344.1_Missense_Mutation_p.D137N|NAP1L1_ENST00000547773.1_Missense_Mutation_p.D116N|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000547993.1_5'UTR	p.D179N	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			7	1021	-		Colorectal(145;0.09)	179					B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.535G>A	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	33	5.256794	0.95336	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000552342;ENST00000548044;ENST00000550934;ENST00000551992;ENST00000548273;ENST00000551600;ENST00000547704	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	L	0.60904	1.88	0.80722	D	1	B;B;P;P;P;P;B	0.42757	0.311;0.385;0.503;0.559;0.789;0.507;0.335	B;B;B;P;B;B;B	0.46510	0.43;0.366;0.43;0.519;0.411;0.18;0.444	T	0.01238	-1.1409	10	0.27785	T	0.31	.	20.3437	0.98782	0.0:1.0:0.0:0.0	.	179;137;190;179;111;116;179	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	N	179;173;179;111;116;137;179;179;190;138;152;179;138;185;186	ENSP00000261182:D179N;ENSP00000450236:D173N;ENSP00000376947:D179N;ENSP00000409795:D111N;ENSP00000448167:D116N;ENSP00000444759:D137N;ENSP00000445008:D179N;ENSP00000447793:D179N;ENSP00000447196:D190N;ENSP00000449649:D138N;ENSP00000448133:D152N;ENSP00000448764:D179N;ENSP00000446787:D138N;ENSP00000448836:D185N;ENSP00000446756:D186N	ENSP00000261182:D179N	D	-	1	0	NAP1L1	74736103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.802000	0.96397	0.563000	0.77884	GAC		0.328	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		14	57	0	0	0	1	0	14	57				
ZNF335	63925	broad.mit.edu	37	20	44596466	44596466	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:44596466C>T	ENST00000322927.2	-	5	821	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	ZNF335_ENST00000426788.1_Missense_Mutation_p.V86M|ZNF335_ENST00000494955.1_5'UTR	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	241					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGCTGCACCACCACCACCTCC	0.667																																						ENST00000322927.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(721-723)Gtg>Atg		zinc finger protein 335							59.0	58.0	58.0					20																	44596466		2203	4300	6503	SO:0001583	missense	63925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:44596466C>T	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.721G>A	20.37:g.44596466C>T	ENSP00000325326:p.Val241Met					ZNF335_ENST00000426788.1_Missense_Mutation_p.V86M|ZNF335_ENST00000494955.1_5'UTR	p.V241M	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN			5	821	-		Myeloproliferative disorder(115;0.0122)	241					B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	ENST00000322927.2	37	c.721G>A	CCDS13389.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920553	0.73213	.	.	ENSG00000198026	ENST00000322927;ENST00000426788	T;T	0.11277	2.79;2.86	4.78	4.78	0.61160	.	0.071527	0.64402	D	0.000020	T	0.17365	0.0417	N	0.24115	0.695	0.39697	D	0.971136	D;D	0.67145	0.996;0.994	D;P	0.65010	0.931;0.854	T	0.01824	-1.1266	10	0.54805	T	0.06	-19.6461	12.1198	0.53885	0.1713:0.8287:0.0:0.0	.	86;241	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	M	241;86	ENSP00000325326:V241M;ENSP00000397098:V86M	ENSP00000325326:V241M	V	-	1	0	ZNF335	44029873	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.048000	0.57390	2.469000	0.83416	0.561000	0.74099	GTG		0.667	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095		39	51	0	0	0	1	0	39	51				
EHBP1L1	254102	broad.mit.edu	37	11	65349394	65349394	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65349394G>C	ENST00000309295.4	+	9	1516	c.1251G>C	c.(1249-1251)gaG>gaC	p.E417D		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	417						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGCTGAAGAGAGTTCAGCAG	0.567																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1249-1251)gaG>gaC		EH domain binding protein 1-like 1							90.0	107.0	101.0					11																	65349394		2163	4273	6436	SO:0001583	missense	254102							g.chr11:65349394G>C	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1251G>C	11.37:g.65349394G>C	ENSP00000312671:p.Glu417Asp						p.E417D	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1516	+			417					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1251G>C	CCDS44649.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.28|13.28	2.189735|2.189735	0.38707|0.38707	.|.	.|.	ENSG00000173442|ENSG00000173442	ENST00000309295;ENST00000533237|ENST00000533465	T;T|D	0.81415|0.92965	-0.23;-1.49|-3.14	4.37|4.37	-1.06|-1.06	0.10002|0.10002	.|.	0.694439|0.694439	0.12529|0.12529	N|N	0.460955|0.460955	D|D	0.83622|0.83622	0.5294|0.5294	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.08055|.	0.001;0.003|.	T|T	0.70428|0.70428	-0.4874|-0.4874	10|8	0.37606|0.22706	T|T	0.19|0.39	.|.	0.8704|0.8704	0.01213|0.01213	0.2926:0.16:0.3836:0.1638|0.2926:0.16:0.3836:0.1638	.|.	417;417|.	E9PIH6;Q8N3D4|.	.;EH1L1_HUMAN|.	D|Q	417|9	ENSP00000312671:E417D;ENSP00000431996:E417D|ENSP00000434693:E9Q	ENSP00000312671:E417D|ENSP00000434693:E9Q	E|E	+|+	3|1	2|0	EHBP1L1|EHBP1L1	65105970|65105970	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.739000|0.739000	0.42172|0.42172	-0.287000|-0.287000	0.08388|0.08388	-0.102000|-0.102000	0.12197|0.12197	0.561000|0.561000	0.74099|0.74099	GAG|GAG		0.567	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		9	43	0	0	0	1	0	9	43				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			643955							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	29	0	0	0	1	0	3	29				
ZFYVE16	9765	broad.mit.edu	37	5	79770487	79770487	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:79770487C>G	ENST00000338008.5	+	17	4479	c.4299C>G	c.(4297-4299)ttC>ttG	p.F1433L	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F1433L|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F1433L	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1433					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TTCAGGTGTTCTACTTTCTAA	0.333																																					Melanoma(150;1452 1854 16018 17851 37292)	ENST00000338008.5																			0				breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4297-4299)ttC>ttG		zinc finger, FYVE domain containing 16							74.0	78.0	77.0					5																	79770487		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79770487C>G	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.4299C>G	5.37:g.79770487C>G	ENSP00000337159:p.Phe1433Leu					ZFYVE16_ENST00000510158.1_Missense_Mutation_p.F1433L|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.F1433L	p.F1433L	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	17	4479	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	1433					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.4299C>G	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.821098	0.71028	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.64618	-0.11;-0.11;-0.11	5.78	-1.42	0.08913	Domain of unknown function DUF3480 (1);	0.000000	0.64402	D	0.000009	T	0.73210	0.3558	M	0.79693	2.465	0.43959	D	0.99663	D;D	0.89917	0.971;1.0	P;D	0.79784	0.902;0.993	T	0.71407	-0.4602	10	0.87932	D	0	-5.0101	6.9375	0.24474	0.1136:0.3952:0.0:0.4912	.	243;1433	B3KXA7;Q7Z3T8	.;ZFY16_HUMAN	L	1433	ENSP00000337159:F1433L;ENSP00000423663:F1433L;ENSP00000426848:F1433L	ENSP00000337159:F1433L	F	+	3	2	ZFYVE16	79806243	0.686000	0.27661	0.971000	0.41717	0.988000	0.76386	-0.216000	0.09266	-0.114000	0.11936	-0.140000	0.14226	TTC		0.333	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2	NM_014733		4	60	0	0	0	1	0	4	60				
LIMA1	51474	broad.mit.edu	37	12	50616264	50616264	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:50616264G>A	ENST00000341247.4	-	4	319	c.170C>T	c.(169-171)aCc>aTc	p.T57I	RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552008.1_5'Flank|LIMA1_ENST00000552909.1_5'Flank|LIMA1_ENST00000552823.1_5'Flank|LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.T57I	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	57					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGATTTTCGGTGTTCTAGAA	0.433																																						ENST00000341247.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						c.(169-171)aCc>aTc		LIM domain and actin binding 1							45.0	48.0	47.0					12																	50616264		2200	4293	6493	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50616264G>A	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.170C>T	12.37:g.50616264G>A	ENSP00000340184:p.Thr57Ile					LIMA1_ENST00000552783.1_5'UTR|LIMA1_ENST00000394943.3_Missense_Mutation_p.T57I|RP3-405J10.4_ENST00000551284.1_RNA	p.T57I	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN			4	319	-			57					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.170C>T	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292924	0.60086	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;T	0.84660	-1.88;-1.15	6.06	5.16	0.70880	.	0.469398	0.23973	N	0.042745	T	0.80954	0.4723	L	0.51422	1.61	0.80722	D	1	B;B	0.32939	0.335;0.391	B;B	0.26693	0.072;0.066	T	0.81200	-0.1041	10	0.59425	D	0.04	.	15.3182	0.74099	0.0683:0.0:0.9317:0.0	.	66;57	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	I	57	ENSP00000378400:T57I;ENSP00000340184:T57I	ENSP00000340184:T57I	T	-	2	0	LIMA1	48902531	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.091000	0.64505	2.882000	0.98803	0.655000	0.94253	ACC		0.433	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		24	87	0	0	0	1	0	24	87				
CTAGE1	64693	broad.mit.edu	37	18	19996126	19996126	+	5'Flank	SNP	C	C	G	rs180907713	byFrequency	TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:19996126C>G	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.R550T			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCAGTTAACCTATCACAGCT	0.537																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27						c.(1648-1650)aGg>aCg		cutaneous T-cell lymphoma-associated antigen 1							90.0	92.0	91.0					18																	19996126		2202	4299	6501	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996126C>G	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996126C>G	Exception_encountered						p.R550T	NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			1	1752	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		550					B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.1649G>C		.	.	.	.	.	.	.	.	.	.	C	3.291	-0.145025	0.06627	.	.	ENSG00000212710	ENST00000391403	T	0.38401	1.14	0.779	-0.224	0.13115	.	.	.	.	.	T	0.23611	0.0571	L	0.41415	1.275	0.09310	N	1	B	0.19445	0.036	B	0.21360	0.034	T	0.25502	-1.0130	8	.	.	.	.	3.3431	0.07126	0.0:0.6789:0.0:0.3211	.	550	Q96RT6	CTGE2_HUMAN	T	550	ENSP00000375220:R550T	.	R	-	2	0	CTAGE1	18250124	1.000000	0.71417	0.013000	0.15412	0.015000	0.08874	1.078000	0.30754	-0.105000	0.12132	-0.359000	0.07587	AGG		0.537	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		16	115	0	0	0	1	0	16	115				
NLRP8	126205	broad.mit.edu	37	19	56466571	56466571	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:56466571G>C	ENST00000291971.3	+	3	1218	c.1147G>C	c.(1147-1149)Gcc>Ccc	p.A383P	NLRP8_ENST00000590542.1_Missense_Mutation_p.A383P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	383	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTGAGTTTCGCCATGGAAAA	0.468																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1147-1149)Gcc>Ccc		NLR family, pyrin domain containing 8							82.0	78.0	80.0					19																	56466571		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466571G>C	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1147G>C	19.37:g.56466571G>C	ENSP00000291971:p.Ala383Pro					NLRP8_ENST00000590542.1_Missense_Mutation_p.A383P	p.A383P	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1218	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	383			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1147G>C	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115339	0.37339	.	.	ENSG00000179709	ENST00000291971	T	0.73575	-0.76	1.9	0.787	0.18596	.	.	.	.	.	T	0.68815	0.3042	N	0.14661	0.345	0.09310	N	1	D;D	0.71674	0.998;0.992	P;P	0.62184	0.899;0.76	T	0.57745	-0.7758	9	0.72032	D	0.01	.	6.0758	0.19915	0.0:0.3262:0.6738:0.0	.	383;383	Q86W28-2;Q86W28	.;NALP8_HUMAN	P	383	ENSP00000291971:A383P	ENSP00000291971:A383P	A	+	1	0	NLRP8	61158383	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	0.200000	0.17257	0.328000	0.23435	0.407000	0.27541	GCC		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		31	99	0	0	0	1	0	31	99				
VPS45	11311	broad.mit.edu	37	1	150048364	150048364	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:150048364G>A	ENST00000369130.3	+	4	889	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	VPS45_ENST00000369128.5_Missense_Mutation_p.E79K|VPS45_ENST00000535106.1_Missense_Mutation_p.E115K	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	115					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAAGCTGATGAACAGGAAGT	0.383																																						ENST00000369130.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(343-345)Gaa>Aaa		vacuolar protein sorting 45 homolog (S. cerevisiae)							178.0	157.0	164.0					1																	150048364		2203	4300	6503	SO:0001583	missense	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150048364G>A	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.343G>A	1.37:g.150048364G>A	ENSP00000358126:p.Glu115Lys					VPS45_ENST00000535106.1_Missense_Mutation_p.E115K|VPS45_ENST00000369128.5_Missense_Mutation_p.E79K	p.E115K	NM_007259.3	NP_009190.2	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	889	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		115					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	c.343G>A	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354174	0.82243	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000535106;ENST00000419023	T;T;T;T	0.80123	1.57;-1.34;1.57;1.57	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.86439	0.5933	M	0.73598	2.24	0.28476	N	0.915193	D;P;B;B	0.71674	0.998;0.684;0.11;0.11	D;B;B;B	0.78314	0.991;0.329;0.139;0.091	T	0.81172	-0.1054	10	0.40728	T	0.16	.	18.1223	0.89576	0.0:0.0:1.0:0.0	.	79;79;115;115	F5H8K1;B7Z7G7;Q53FR8;Q9NRW7	.;.;.;VPS45_HUMAN	K	115;79;115;115	ENSP00000358126:E115K;ENSP00000358124:E79K;ENSP00000440690:E115K;ENSP00000400143:E115K	ENSP00000358124:E79K	E	+	1	0	VPS45	148314988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.750000	0.98875	2.518000	0.84900	0.655000	0.94253	GAA		0.383	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		42	87	0	0	0	1	0	42	87				
STAT5A	6776	broad.mit.edu	37	17	40461401	40461401	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:40461401G>A	ENST00000345506.4	+	19	2763	c.2121G>A	c.(2119-2121)gtG>gtA	p.V707V	STAT5A_ENST00000588868.1_Silent_p.V676V|STAT5A_ENST00000587646.1_Silent_p.V195V|STAT5A_ENST00000452307.2_Silent_p.V704V|STAT5A_ENST00000546010.2_Silent_p.V677V|STAT5A_ENST00000590949.1_Silent_p.V707V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	707					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCAGGTTTGTGAATGCATCTG	0.617																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(2119-2121)gtG>gtA		signal transducer and activator of transcription 5A							33.0	31.0	32.0					17																	40461401		2203	4300	6503	SO:0001819	synonymous_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40461401G>A	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.2121G>A	17.37:g.40461401G>A						STAT5A_ENST00000546010.2_Silent_p.V677V|STAT5A_ENST00000588868.1_Silent_p.V676V|STAT5A_ENST00000590949.1_Silent_p.V707V|STAT5A_ENST00000452307.2_Silent_p.V704V|STAT5A_ENST00000587646.1_Silent_p.V195V	p.V707V	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	19	2763	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	707					Q1KLZ6	Silent	SNP	ENST00000345506.4	37	c.2121G>A	CCDS11424.1																																																																																				0.617	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		6	43	0	0	0	1	0	6	43				
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:178098960C>A	ENST00000397062.3	-	2	639	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13Y|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												ENST00000397062.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			"""NSCLC, HNSCC"""		15	Substitution - Missense(15)	p.D29H(11)|p.D29N(2)|p.D29Y(2)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)	central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158						c.(85-87)Gat>Tat		nuclear factor, erythroid 2-like 2							66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098960C>A		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>T	2.37:g.178098960C>A	ENSP00000380252:p.Asp29Tyr	HNSCC(56;0.16)				NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13Y|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13Y|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13Y	p.D29Y	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	639	-			29					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.85G>T	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014623	0.75161	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68109	0.2965	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.72623	-0.4237	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Y	13;29;13;13;13;13;13	ENSP00000380253:D13Y;ENSP00000380252:D29Y;ENSP00000411575:D13Y;ENSP00000391590:D13Y;ENSP00000400073:D13Y;ENSP00000412191:D13Y;ENSP00000410015:D13Y	ENSP00000380252:D29Y	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		9	34	1	0	7.48243e-07	1	7.98849e-07	9	34				
LRRC4C	57689	broad.mit.edu	37	11	40136785	40136785	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:40136785G>A	ENST00000278198.2	-	2	3021	c.1058C>T	c.(1057-1059)gCt>gTt	p.A353V	LRRC4C_ENST00000527150.1_Missense_Mutation_p.A353V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A353V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A353V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	353	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AATCACCGGAGCATAGCATGT	0.542																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1057-1059)gCt>gTt		leucine rich repeat containing 4C							87.0	74.0	79.0					11																	40136785		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136785G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1058C>T	11.37:g.40136785G>A	ENSP00000278198:p.Ala353Val					LRRC4C_ENST00000527150.1_Missense_Mutation_p.A353V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A353V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A353V	p.A353V			Q9HCJ2	LRC4C_HUMAN			2	3021	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	353			LRRCT.		A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.1058C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.133936	0.37630	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.72	5.72	0.89469	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.31544	0.0800	L	0.46157	1.445	0.80722	D	1	B	0.20052	0.041	B	0.06405	0.002	T	0.02713	-1.1120	10	0.39692	T	0.17	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	353	Q9HCJ2	LRC4C_HUMAN	V	353	ENSP00000278198:A353V;ENSP00000436976:A353V;ENSP00000437132:A353V;ENSP00000434761:A353V	ENSP00000278198:A353V	A	-	2	0	LRRC4C	40093361	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.786000	0.99046	2.728000	0.93425	0.650000	0.86243	GCT		0.542	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		18	75	0	0	0	1	0	18	75				
APBB1IP	54518	broad.mit.edu	37	10	26802572	26802572	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr10:26802572G>T	ENST00000376236.4	+	8	1251	c.796G>T	c.(796-798)Gta>Tta	p.V266L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	266					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GAAATATGCTGTATTTAAAAA	0.333																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(796-798)Gta>Tta		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							79.0	89.0	86.0					10																	26802572		2202	4298	6500	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26802572G>T	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.796G>T	10.37:g.26802572G>T	ENSP00000365411:p.Val266Leu						p.V266L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			8	1251	+			266					Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.796G>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	8.008	0.756913	0.15846	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.73897	-0.79	5.87	5.87	0.94306	.	0.110361	0.64402	D	0.000011	T	0.59046	0.2165	N	0.17474	0.49	0.80722	D	1	B;P	0.36438	0.007;0.553	B;B	0.39185	0.034;0.293	T	0.58312	-0.7658	10	0.02654	T	1	.	16.1994	0.82060	0.0:0.0:0.8592:0.1408	.	266;266	B4E100;Q7Z5R6	.;AB1IP_HUMAN	L	266	ENSP00000365411:V266L	ENSP00000365411:V266L	V	+	1	0	APBB1IP	26842578	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	3.615000	0.54167	2.941000	0.99782	0.655000	0.94253	GTA		0.333	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		13	88	1	0	5.50884e-06	1	5.76992e-06	13	88				
OR14A16	284532	broad.mit.edu	37	1	247978594	247978594	+	Silent	SNP	A	A	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:247978594A>T	ENST00000357627.1	-	1	437	c.438T>A	c.(436-438)tcT>tcA	p.S146S		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CATACAGCCAAGACACAGTGG	0.502																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(436-438)tcT>tcA		olfactory receptor, family 14, subfamily A, member 16							124.0	114.0	117.0					1																	247978594		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978594A>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.438T>A	1.37:g.247978594A>T							p.S146S	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	437	-			146					Q6IF96	Silent	SNP	ENST00000357627.1	37	c.438T>A	CCDS31097.1																																																																																				0.502	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		12	179	0	0	0	1	0	12	179				
SLC25A22	79751	broad.mit.edu	37	11	792392	792392	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:792392C>T	ENST00000320230.5	-	8	1135	c.654G>A	c.(652-654)gcG>gcA	p.A218A	CEND1_ENST00000330106.4_5'Flank|SLC25A22_ENST00000531214.1_Silent_p.A218A|CEND1_ENST00000524587.1_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	218					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCTCCTCGGACGCCGGGCGGC	0.657																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5																			0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(652-654)gcG>gcA		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						72.0	80.0	77.0					11																	792392		2203	4298	6501	SO:0001819	synonymous_variant	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792392C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.654G>A	11.37:g.792392C>T						SLC25A22_ENST00000531214.1_Silent_p.A218A	p.A218A	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1135	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	218					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Silent	SNP	ENST00000320230.5	37	c.654G>A	CCDS7715.1																																																																																				0.657	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2			46	189	0	0	0	1	0	46	189				
WDR92	116143	broad.mit.edu	37	2	68358543	68358543	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:68358543C>T	ENST00000295121.6	-	8	1017	c.901G>A	c.(901-903)Gag>Aag	p.E301K	RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000492039.2_5'UTR	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	301					apoptotic process (GO:0006915)|histone lysine methylation (GO:0034968)		methylated histone binding (GO:0035064)			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						TCTATTCCCTCAGAATCTTTC	0.393																																						ENST00000295121.6																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						c.(901-903)Gag>Aag		WD repeat domain 92							91.0	88.0	89.0					2																	68358543		2203	4300	6503	SO:0001583	missense	116143				apoptosis|histone lysine methylation		methylated histone residue binding	g.chr2:68358543C>T	AK056303	CCDS1884.1, CCDS58712.1	2p14	2013-01-09			ENSG00000243667	ENSG00000243667		"""WD repeat domain containing"""	25176	protein-coding gene	gene with protein product		610729				16487927	Standard	NM_138458		Approved	FLJ31741, Monad	uc002see.2	Q96MX6	OTTHUMG00000152561	ENST00000295121.6:c.901G>A	2.37:g.68358543C>T	ENSP00000295121:p.Glu301Lys					WDR92_ENST00000492039.2_5'UTR	p.E301K	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN			8	1017	-			301					Q96CR6	Missense_Mutation	SNP	ENST00000295121.6	37	c.901G>A	CCDS1884.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579344	0.86645	.	.	ENSG00000243667	ENST00000295121	D	0.90324	-2.65	5.77	5.77	0.91146	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.163079	0.38663	N	0.001603	D	0.85075	0.5614	N	0.19112	0.55	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.78682	-0.2109	10	0.42905	T	0.14	.	18.536	0.91010	0.0:1.0:0.0:0.0	.	301	Q96MX6	WDR92_HUMAN	K	301	ENSP00000295121:E301K	ENSP00000295121:E301K	E	-	1	0	WDR92	68212047	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	7.445000	0.80570	2.890000	0.99128	0.585000	0.79938	GAG		0.393	WDR92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251754.2	NM_138458		6	92	0	0	0	1	0	6	92				
NBEA	26960	broad.mit.edu	37	13	35747697	35747697	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr13:35747697T>C	ENST00000400445.3	+	27	5054	c.4520T>C	c.(4519-4521)gTt>gCt	p.V1507A	NBEA_ENST00000540320.1_Missense_Mutation_p.V1507A|NBEA_ENST00000379939.2_Missense_Mutation_p.V1504A|NBEA_ENST00000310336.4_Missense_Mutation_p.V1507A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1507					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCTCAGGAAGTTCCTCAAAGT	0.373																																						ENST00000540320.1																			0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(4519-4521)gTt>gCt		neurobeachin							89.0	88.0	89.0					13																	35747697		1849	4093	5942	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35747697T>C	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4520T>C	13.37:g.35747697T>C	ENSP00000383295:p.Val1507Ala					NBEA_ENST00000379939.2_Missense_Mutation_p.V1504A|NBEA_ENST00000310336.4_Missense_Mutation_p.V1507A|NBEA_ENST00000400445.3_Missense_Mutation_p.V1507A	p.V1507A			Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	27	5054	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1507					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.4520T>C	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	T	6.015	0.371137	0.11409	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.71	1.68	0.24146	.	0.649667	0.16232	N	0.223526	T	0.14399	0.0348	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31251	-0.9950	10	0.09338	T	0.73	.	8.3418	0.32247	0.0:0.6874:0.1323:0.1804	.	1507;1504	Q8NFP9;Q5T321	NBEA_HUMAN;.	A	1507;1507;1504;1507;166	ENSP00000440951:V1507A;ENSP00000383295:V1507A;ENSP00000369271:V1504A;ENSP00000308534:V1507A	ENSP00000308534:V1507A	V	+	2	0	NBEA	34645697	0.013000	0.17824	0.451000	0.26982	0.980000	0.70556	0.028000	0.13644	-0.001000	0.14495	0.528000	0.53228	GTT		0.373	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		7	54	0	0	0	1	0	7	54				
ADAM32	203102	broad.mit.edu	37	8	39114738	39114738	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:39114738G>A	ENST00000379907.4	+	19	2165	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	ADAM32_ENST00000437682.2_Missense_Mutation_p.E581K|ADAM32_ENST00000519315.1_Missense_Mutation_p.E574K	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	680						integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGGGAAGACTGAAAACACCTG	0.343																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(2038-2040)Gaa>Aaa		ADAM metallopeptidase domain 32							93.0	92.0	92.0					8																	39114738		1819	4080	5899	SO:0001583	missense	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39114738G>A	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.2038G>A	8.37:g.39114738G>A	ENSP00000369238:p.Glu680Lys					ADAM32_ENST00000437682.2_Missense_Mutation_p.E581K|ADAM32_ENST00000519315.1_Missense_Mutation_p.E574K	p.E680K	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		19	2165	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	680					Q8TC42	Missense_Mutation	SNP	ENST00000379907.4	37	c.2038G>A	CCDS47846.1	.	.	.	.	.	.	.	.	.	.	G	9.364	1.068758	0.20147	.	.	ENSG00000197140	ENST00000437682;ENST00000519315;ENST00000379907	D;D;D	0.87729	-2.29;-2.29;-2.29	4.39	-3.19	0.05171	.	0.489563	0.15197	N	0.275234	T	0.65780	0.2724	N	0.11724	0.165	0.09310	N	1	B;P;B;B	0.42518	0.005;0.782;0.085;0.004	B;B;B;B	0.38712	0.004;0.28;0.017;0.002	T	0.68051	-0.5511	10	0.06365	T	0.9	.	6.3205	0.21215	0.5714:0.1447:0.284:0.0	.	581;104;574;680	E7EPX8;Q6ZP86;E7ER82;Q8TC27	.;.;.;ADA32_HUMAN	K	581;574;680	ENSP00000405978:E581K;ENSP00000429422:E574K;ENSP00000369238:E680K	ENSP00000369238:E680K	E	+	1	0	ADAM32	39233895	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.289000	0.08365	-0.715000	0.04968	-0.345000	0.07892	GAA		0.343	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		5	51	0	0	0	1	0	5	51				
XRN1	54464	broad.mit.edu	37	3	142089455	142089455	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:142089455T>G	ENST00000264951.4	-	27	3193	c.3076A>C	c.(3076-3078)Aaa>Caa	p.K1026Q	XRN1_ENST00000392981.2_Missense_Mutation_p.K1026Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1026					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TCTTGAACTTTTTCAGCACTA	0.269																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(3076-3078)Aaa>Caa		5'-3' exoribonuclease 1							53.0	55.0	55.0					3																	142089455		2199	4299	6498	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142089455T>G	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3076A>C	3.37:g.142089455T>G	ENSP00000264951:p.Lys1026Gln					XRN1_ENST00000392981.2_Missense_Mutation_p.K1026Q	p.K1026Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			27	3193	-			1026					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.3076A>C	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322901	0.81580	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.34667	1.35;1.35	5.7	5.7	0.88788	.	0.051353	0.85682	D	0.000000	T	0.49660	0.1570	M	0.83384	2.64	0.80722	D	1	B;B	0.33512	0.415;0.291	B;B	0.39258	0.295;0.155	T	0.54255	-0.8321	10	0.56958	D	0.05	-21.8615	15.9708	0.80019	0.0:0.0:0.0:1.0	.	1026;1026	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	Q	1026	ENSP00000264951:K1026Q;ENSP00000376707:K1026Q	ENSP00000264951:K1026Q	K	-	1	0	XRN1	143572145	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.250000	0.78287	2.167000	0.68274	0.528000	0.53228	AAA		0.269	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		4	35	0	0	0	1	0	4	35				
C20orf195	79025	broad.mit.edu	37	20	62187169	62187169	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:62187169C>T	ENST00000370098.3	+	2	245	c.153C>T	c.(151-153)ttC>ttT	p.F51F	C20orf195_ENST00000370097.1_Silent_p.F51F	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	51						extracellular vesicular exosome (GO:0070062)				large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			TGCGTGAGTTCCTGACCTCGG	0.637																																						ENST00000370098.3																			0				large_intestine(3)|lung(4)	7						c.(151-153)ttC>ttT		chromosome 20 open reading frame 195							62.0	56.0	58.0					20																	62187169		2203	4300	6503	SO:0001819	synonymous_variant	79025							g.chr20:62187169C>T		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.153C>T	20.37:g.62187169C>T						C20orf195_ENST00000370097.1_Silent_p.F51F	p.F51F	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	245	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		51						Silent	SNP	ENST00000370098.3	37	c.153C>T	CCDS13526.1																																																																																				0.637	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1	NM_024059		21	54	0	0	0	1	0	21	54				
UGT8	7368	broad.mit.edu	37	4	115544355	115544355	+	Silent	SNP	C	C	T	rs137983750	byFrequency	TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:115544355C>T	ENST00000310836.6	+	2	841	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L	UGT8_ENST00000394511.3_Silent_p.L107L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	107					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		GTTTGACATACTGGATCACTA	0.458																																						ENST00000310836.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(319-321)Ctg>Ttg		UDP glycosyltransferase 8							150.0	148.0	148.0					4																	115544355		2203	4300	6503	SO:0001819	synonymous_variant	7368				central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	g.chr4:115544355C>T	AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.319C>T	4.37:g.115544355C>T						UGT8_ENST00000394511.3_Silent_p.L107L	p.L107L	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000632)	2	841	+		Ovarian(17;0.156)	107					B3KXU7|O00196	Silent	SNP	ENST00000310836.6	37	c.319C>T	CCDS3705.1																																																																																				0.458	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256426.2	NM_003360		4	112	0	0	0	1	0	4	112				
CSMD2	114784	broad.mit.edu	37	1	34204889	34204889	+	Silent	SNP	G	G	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:34204889G>T	ENST00000373381.4	-	15	2396	c.2220C>A	c.(2218-2220)ggC>ggA	p.G740G		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	700	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAAACCGTTTGCCATTTACTG	0.547																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(2218-2220)ggC>ggA		CUB and Sushi multiple domains 2							91.0	93.0	92.0					1																	34204889		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34204889G>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2220C>A	1.37:g.34204889G>T							p.G740G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			15	2396	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	700			Sushi 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	37	c.2220C>A																																																																																					0.547	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		18	77	1	0	2.94398e-08	1	3.23692e-08	18	77				
UCHL5	51377	broad.mit.edu	37	1	193028340	193028340	+	Silent	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:193028340G>C	ENST00000367455.4	-	1	286	c.51C>G	c.(49-51)gtC>gtG	p.V17V	UCHL5_ENST00000367448.1_Silent_p.V17V|UCHL5_ENST00000367452.4_Intron|TROVE2_ENST00000367443.1_5'Flank|TROVE2_ENST00000367446.3_5'Flank|snoU109_ENST00000458806.1_RNA|UCHL5_ENST00000367454.1_Silent_p.V17V|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Silent_p.V17V|UCHL5_ENST00000530098.2_5'UTR|TROVE2_ENST00000432079.1_5'Flank|TROVE2_ENST00000367444.3_5'Flank|TROVE2_ENST00000400968.2_5'Flank|UCHL5_ENST00000367451.4_Silent_p.V17V|TROVE2_ENST00000416058.2_5'Flank|TROVE2_ENST00000367445.3_5'Flank	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5	17					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|forebrain morphogenesis (GO:0048853)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein deubiquitination (GO:0016579)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	endopeptidase inhibitor activity (GO:0004866)|omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|proteasome binding (GO:0070628)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						GCTCGGTGAAGACCCCGGGGT	0.662																																						ENST00000367455.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						c.(49-51)gtC>gtG		ubiquitin carboxyl-terminal hydrolase L5							45.0	45.0	45.0					1																	193028340		2202	4300	6502	SO:0001819	synonymous_variant	51377				DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:193028340G>C		CCDS1378.1, CCDS55668.1, CCDS55669.1, CCDS55670.1	1q32	2011-07-06			ENSG00000116750	ENSG00000116750		"""INO80 complex subunits"""	19678	protein-coding gene	gene with protein product	"""INO80 complex subunit R"""	610667				10810093, 16027725	Standard	NM_015984		Approved	UCH37, CGI-70, INO80R	uc001gsm.3	Q9Y5K5	OTTHUMG00000035561	ENST00000367455.4:c.51C>G	1.37:g.193028340G>C						UCHL5_ENST00000367452.4_Intron|UCHL5_ENST00000367448.1_Silent_p.V17V|UCHL5_ENST00000367451.4_Silent_p.V17V|UCHL5_ENST00000483156.1_5'UTR|UCHL5_ENST00000367449.1_Silent_p.V17V|UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367454.1_Silent_p.V17V	p.V17V	NM_015984.3	NP_057068.1	Q9Y5K5	UCHL5_HUMAN			1	286	-			17					Q5LJA6|Q5LJA7|Q8TBS4|Q96BJ9|Q9H1W5|Q9P0I3|Q9UQN2	Silent	SNP	ENST00000367455.4	37	c.51C>G	CCDS1378.1																																																																																				0.662	UCHL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086318.3	NM_015984		7	36	0	0	0	1	0	7	36				
XRN1	54464	broad.mit.edu	37	3	142078708	142078708	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:142078708T>C	ENST00000264951.4	-	30	3577	c.3460A>G	c.(3460-3462)Ata>Gta	p.I1154V	XRN1_ENST00000392981.2_Missense_Mutation_p.I1154V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1154					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACAAACCTTATTGTTAACCCT	0.328																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(3460-3462)Ata>Gta		5'-3' exoribonuclease 1							71.0	74.0	73.0					3																	142078708		2203	4299	6502	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142078708T>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3460A>G	3.37:g.142078708T>C	ENSP00000264951:p.Ile1154Val					XRN1_ENST00000392981.2_Missense_Mutation_p.I1154V	p.I1154V	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			30	3577	-			1154					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.3460A>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.010456	0.75046	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.30448	1.53;1.53	5.61	4.45	0.53987	.	0.049831	0.85682	N	0.000000	T	0.47838	0.1467	M	0.74881	2.28	0.80722	D	1	P;P	0.51653	0.947;0.885	P;P	0.58077	0.832;0.626	T	0.40232	-0.9574	10	0.30854	T	0.27	.	11.5409	0.50665	0.0:0.07:0.0:0.93	.	1154;1154	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	V	1154	ENSP00000264951:I1154V;ENSP00000376707:I1154V	ENSP00000264951:I1154V	I	-	1	0	XRN1	143561398	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.332000	0.59279	0.950000	0.37743	0.533000	0.62120	ATA		0.328	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		5	43	0	0	0	1	0	5	43				
TSPAN10	83882	broad.mit.edu	37	17	79612378	79612378	+	RNA	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:79612378G>A	ENST00000572675.1	+	0	397				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGTGGTCAGCGCAGTGAGCCT	0.672																																						ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10							28.0	37.0	34.0					17																	79612378		2017	4181	6198			83882					integral to membrane		g.chr17:79612378G>A	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612378G>A						TSPAN10_ENST00000572675.1_RNA		NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	487	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q8N548	RNA	SNP	ENST00000572675.1	37			.	.	.	.	.	.	.	.	.	.	G	0.557	-0.846904	0.02671	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.78126	-1.15	4.15	-1.74	0.08056	Tetraspanin, conserved site (1);	1.068500	0.07197	N	0.856853	T	0.57858	0.2082	N	0.12746	0.255	0.09310	N	1	B;B	0.13594	0.008;0.003	B;B	0.10450	0.005;0.003	T	0.38457	-0.9660	10	0.29301	T	0.29	-0.0035	7.5688	0.27896	0.4371:0.0:0.4576:0.1052	.	133;133	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	T	133	ENSP00000331620:A133T	ENSP00000331620:A133T	A	+	1	0	TSPAN10	77222783	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-1.342000	0.02645	-0.443000	0.07180	-1.598000	0.00824	GCA		0.672	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		4	12	0	0	0	1	0	4	12				
FCRL5	83416	broad.mit.edu	37	1	157514217	157514217	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:157514217G>A	ENST00000361835.3	-	5	836	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	FCRL5_ENST00000368191.3_Missense_Mutation_p.R142C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R227C|FCRL5_ENST00000368189.3_Missense_Mutation_p.R227C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R227C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	227	Ig-like C2-type 2.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGAAGAAGCGGAACCGGAGC	0.562																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(679-681)Cgc>Tgc		Fc receptor-like 5							110.0	117.0	115.0					1																	157514217		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157514217G>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.679C>T	1.37:g.157514217G>A	ENSP00000354691:p.Arg227Cys					FCRL5_ENST00000368189.3_Missense_Mutation_p.R227C|FCRL5_ENST00000368190.3_Missense_Mutation_p.R227C|FCRL5_ENST00000368191.3_Missense_Mutation_p.R142C|FCRL5_ENST00000356953.4_Missense_Mutation_p.R227C	p.R227C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			5	836	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	227			Ig-like C2-type 2.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.679C>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	G	8.684	0.905900	0.17760	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191;ENST00000368189	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	4.23	-6.08	0.02151	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.475521	0.15826	N	0.242755	T	0.00906	0.0030	N	0.01874	-0.695	0.09310	N	0.999999	B;B;B;B;B	0.14805	0.001;0.001;0.005;0.011;0.005	B;B;B;B;B	0.12837	0.003;0.001;0.008;0.003;0.008	T	0.41179	-0.9523	10	0.35671	T	0.21	.	2.9769	0.05941	0.4101:0.112:0.3659:0.1121	.	142;227;227;227;227	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9-4;Q96RD9	.;.;.;.;FCRL5_HUMAN	C	227;227;227;142;227	ENSP00000354691:R227C;ENSP00000349434:R227C;ENSP00000357173:R227C;ENSP00000357174:R142C;ENSP00000357172:R227C	ENSP00000349434:R227C	R	-	1	0	FCRL5	155780841	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.891000	0.04135	-1.131000	0.02910	-1.525000	0.00928	CGC		0.562	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		43	229	0	0	0	1	0	43	229				
EHBP1L1	254102	broad.mit.edu	37	11	65350805	65350805	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65350805G>T	ENST00000309295.4	+	9	2927	c.2662G>T	c.(2662-2664)Gaa>Taa	p.E888*		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	888	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGGTCCAGGAAGCAGAGAC	0.517																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2662-2664)Gaa>Taa		EH domain binding protein 1-like 1							36.0	37.0	37.0					11																	65350805		1865	4088	5953	SO:0001587	stop_gained	254102							g.chr11:65350805G>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2662G>T	11.37:g.65350805G>T	ENSP00000312671:p.Glu888*						p.E888*	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	2927	+			888			Glu-rich.		Q8TB89|Q9H7M7	Nonsense_Mutation	SNP	ENST00000309295.4	37	c.2662G>T	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	39	7.906104	0.98554	.	.	ENSG00000173442	ENST00000309295	.	.	.	5.61	1.12	0.20585	.	0.414645	0.17812	N	0.161199	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	5.1829	0.15169	0.303:0.1464:0.5505:0.0	.	.	.	.	X	888	.	ENSP00000312671:E888X	E	+	1	0	EHBP1L1	65107381	0.008000	0.16893	0.569000	0.28460	0.057000	0.15508	0.990000	0.29642	0.184000	0.20083	0.585000	0.79938	GAA		0.517	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		7	51	1	0	0.0477658	1	0.048202	7	51				
NFAT5	10725	broad.mit.edu	37	16	69727125	69727125	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:69727125C>G	ENST00000354436.2	+	12	3661	c.3343C>G	c.(3343-3345)Cca>Gca	p.P1115A	NFAT5_ENST00000567239.1_Missense_Mutation_p.P1132A|NFAT5_ENST00000393742.2_Missense_Mutation_p.P1039A|NFAT5_ENST00000566899.1_Missense_Mutation_p.P1039A|NFAT5_ENST00000432919.1_Missense_Mutation_p.P1133A|NFAT5_ENST00000349945.1_Missense_Mutation_p.P1039A	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1115					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AATGCAGCCTCCAATGTTTCA	0.443																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3115-3117)Cca>Gca		nuclear factor of activated T-cells 5, tonicity-responsive							104.0	106.0	105.0					16																	69727125		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69727125C>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.3343C>G	16.37:g.69727125C>G	ENSP00000346420:p.Pro1115Ala					NFAT5_ENST00000567239.1_Missense_Mutation_p.P1132A|NFAT5_ENST00000566899.1_Missense_Mutation_p.P1039A|NFAT5_ENST00000354436.2_Missense_Mutation_p.P1115A|NFAT5_ENST00000432919.1_Missense_Mutation_p.P1133A|NFAT5_ENST00000393742.2_Missense_Mutation_p.P1039A	p.P1039A	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			14	4667	+			1115					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.3115C>G	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	1.439	-0.568114	0.03910	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.39406	1.08;1.08;1.09;1.08	5.83	1.24	0.21308	.	0.413948	0.29093	N	0.013168	T	0.21921	0.0528	N	0.17474	0.49	0.36985	D	0.894508	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.08146	-1.0736	10	0.27082	T	0.32	-0.1866	6.8608	0.24066	0.0:0.5345:0.1232:0.3423	.	1132;1115;1133	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	A	1133;1132;1039;1115;1039	ENSP00000396538:P1133A;ENSP00000338806:P1039A;ENSP00000346420:P1115A;ENSP00000377343:P1039A	ENSP00000338806:P1039A	P	+	1	0	NFAT5	68284626	0.976000	0.34144	1.000000	0.80357	0.995000	0.86356	0.150000	0.16263	0.374000	0.24650	-0.140000	0.14226	CCA		0.443	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		25	191	0	0	0	1	0	25	191				
TAS2R1	50834	broad.mit.edu	37	5	9630065	9630065	+	Missense_Mutation	SNP	A	A	T	rs200698320	byFrequency	TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:9630065A>T	ENST00000382492.2	-	1	398	c.80T>A	c.(79-81)aTt>aAt	p.I27N	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	27					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						CACCACCACAATGATGCCATT	0.368																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(79-81)aTt>aAt		taste receptor, type 2, member 1							57.0	61.0	60.0					5																	9630065		2199	4299	6498	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9630065A>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.80T>A	5.37:g.9630065A>T	ENSP00000371932:p.Ile27Asn					CTD-2001E22.1_ENST00000504182.2_RNA	p.I27N	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	398	-			27					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.80T>A	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750692	0.49257	.	.	ENSG00000169777	ENST00000382492	T	0.01474	4.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.11965	0.0291	M	0.86740	2.835	0.38559	D	0.949645	D	0.89917	1.0	D	0.87578	0.998	T	0.00733	-1.1589	9	.	.	.	.	13.2819	0.60219	1.0:0.0:0.0:0.0	.	27	Q9NYW7	TA2R1_HUMAN	N	27	ENSP00000371932:I27N	.	I	-	2	0	TAS2R1	9683065	0.992000	0.36948	0.161000	0.22692	0.084000	0.17831	3.193000	0.50997	2.233000	0.73108	0.533000	0.62120	ATT		0.368	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			15	51	0	0	0	1	0	15	51				
CAND2	23066	broad.mit.edu	37	3	12861601	12861601	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:12861601G>A	ENST00000456430.2	+	11	3002	c.2961G>A	c.(2959-2961)cgG>cgA	p.R987R	CAND2_ENST00000295989.5_Silent_p.R894R	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	987					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACACACCCGGAGCACCGTCA	0.597																																					GBM(43;676 868 1633 6395 37496)	ENST00000456430.2																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2959-2961)cgG>cgA		cullin-associated and neddylation-dissociated 2 (putative)							125.0	136.0	133.0					3																	12861601		2163	4243	6406	SO:0001819	synonymous_variant	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12861601G>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.2961G>A	3.37:g.12861601G>A						CAND2_ENST00000295989.5_Silent_p.R894R	p.R987R	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN			11	3002	+			987					B9EGM9|E9KL24	Silent	SNP	ENST00000456430.2	37	c.2961G>A	CCDS54554.1																																																																																				0.597	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4	XM_371617		22	75	0	0	0	1	0	22	75				
CCDC176	80127	broad.mit.edu	37	14	74522295	74522295	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:74522295T>C	ENST00000394009.3	+	9	1418	c.1295T>C	c.(1294-1296)aTt>aCt	p.I432T	AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Missense_Mutation_p.I157T|CCDC176_ENST00000492247.2_5'UTR	NM_025057.2	NP_079333.2	Q8ND07	BBOF1_HUMAN	coiled-coil domain containing 176	432					motile cilium assembly (GO:0044458)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)											AGGACACATATTGAAGGAAAT	0.333																																						ENST00000394009.3																			0											c.(1294-1296)aTt>aCt		coiled-coil domain containing 176							104.0	102.0	103.0					14																	74522295		2203	4300	6503	SO:0001583	missense	80127							g.chr14:74522295T>C	BI457605	CCDS32119.2	14q24.3	2013-01-04	2012-09-25	2012-09-25	ENSG00000119636	ENSG00000119636			19855	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 45"""	C14orf45			Standard	NM_025057		Approved		uc010tup.2	Q8ND07	OTTHUMG00000152786	ENST00000394009.3:c.1295T>C	14.37:g.74522295T>C	ENSP00000377577:p.Ile432Thr					CCDC176_ENST00000553773.1_Missense_Mutation_p.I157T|CCDC176_ENST00000492247.2_5'UTR|AC005484.5_ENST00000492026.1_RNA	p.I432T	NM_025057.2	NP_079333.2					9	1418	+								Q0P604|Q9H5P8	Missense_Mutation	SNP	ENST00000394009.3	37	c.1295T>C	CCDS32119.2	.	.	.	.	.	.	.	.	.	.	T	11.65	1.701100	0.30142	.	.	ENSG00000119636	ENST00000394009;ENST00000553773	T;T	0.46063	2.22;0.88	5.82	4.73	0.59995	.	0.385559	0.25225	N	0.032203	T	0.22589	0.0545	N	0.13043	0.29	0.24412	N	0.994658	B	0.09022	0.002	B	0.10450	0.005	T	0.14420	-1.0473	10	0.24483	T	0.36	-3.6829	5.7905	0.18357	0.0:0.273:0.0:0.727	.	432	Q8ND07	CN045_HUMAN	T	432;157	ENSP00000377577:I432T;ENSP00000451097:I157T	ENSP00000377577:I432T	I	+	2	0	C14orf45	73592048	0.681000	0.27614	1.000000	0.80357	0.588000	0.36517	0.435000	0.21510	1.127000	0.42034	0.383000	0.25322	ATT		0.333	CCDC176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327863.1	NM_025057		11	67	0	0	0	1	0	11	67				
TTC21A	199223	broad.mit.edu	37	3	39156139	39156139	+	Missense_Mutation	SNP	G	G	A	rs201208359		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:39156139G>A	ENST00000431162.2	+	6	756	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	TTC21A_ENST00000301819.6_Missense_Mutation_p.V208M|TTC21A_ENST00000440121.1_Missense_Mutation_p.V167M			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	208										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCAGATCACTGTGACTTCAGG	0.557													G|||	0	0.0	0.0	0.0	5008	,	,		20964	0.0		0.0	False		,,,				2504	0.0					ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(622-624)Gtg>Atg		tetratricopeptide repeat domain 21A							123.0	122.0	123.0					3																	39156139		2034	4183	6217	SO:0001583	missense	199223						binding	g.chr3:39156139G>A	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.622G>A	3.37:g.39156139G>A	ENSP00000398211:p.Val208Met					TTC21A_ENST00000431162.2_Missense_Mutation_p.V208M|TTC21A_ENST00000440121.1_Missense_Mutation_p.V167M	p.V208M	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	6	799	+			208					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.622G>A	CCDS46800.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.16	2.750393	0.49257	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.63255	-0.03;-0.03;2.3	5.0	1.99	0.26369	Tetratricopeptide-like helical (1);	0.498734	0.17948	N	0.156602	T	0.62744	0.2453	M	0.65498	2.005	0.09310	N	1	D;D;D;P;D	0.54772	0.968;0.96;0.96;0.933;0.96	P;P;P;B;P	0.51135	0.66;0.509;0.605;0.401;0.509	T	0.53940	-0.8367	10	0.45353	T	0.12	-4.5333	4.8503	0.13533	0.0816:0.1294:0.5979:0.1911	.	167;208;208;208;208	Q8NDW8-6;Q8NDW8-5;Q8NDW8-7;Q8NDW8;F5H6V8	.;.;.;TT21A_HUMAN;.	M	208;208;208;167	ENSP00000301819:V208M;ENSP00000398211:V208M;ENSP00000410882:V167M	ENSP00000301819:V208M	V	+	1	0	TTC21A	39131143	0.127000	0.22367	0.002000	0.10522	0.799000	0.45148	2.230000	0.42999	0.069000	0.16605	0.561000	0.74099	GTG		0.557	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		53	93	0	0	0	1	0	53	93				
CASR	846	broad.mit.edu	37	3	122003928	122003928	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:122003928G>A	ENST00000490131.1	+	7	3499	c.3127G>A	c.(3127-3129)Gag>Aag	p.E1043K	CASR_ENST00000498619.1_Missense_Mutation_p.E1053K|CASR_ENST00000296154.5_Missense_Mutation_p.E1043K	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1043					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAGCGGCCAGAGGTGGAGGA	0.557																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(3157-3159)Gag>Aag		calcium-sensing receptor	Cinacalcet(DB01012)						73.0	74.0	74.0					3																	122003928		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003928G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3127G>A	3.37:g.122003928G>A	ENSP00000418685:p.Glu1043Lys					CASR_ENST00000490131.1_Missense_Mutation_p.E1043K|CASR_ENST00000296154.5_Missense_Mutation_p.E1043K	p.E1053K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3595	+			1043					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.3157G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096834	0.20552	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89415	-2.51;-2.51;-2.51	4.96	4.96	0.65561	.	0.070670	0.56097	D	0.000024	T	0.81697	0.4877	N	0.24115	0.695	0.42331	D	0.992299	B;B	0.31318	0.001;0.319	B;B	0.21360	0.003;0.034	T	0.81169	-0.1055	10	0.49607	T	0.09	.	17.7309	0.88377	0.0:0.0:1.0:0.0	.	1053;1043	E7ENE0;P41180	.;CASR_HUMAN	K	1043;1053;1043	ENSP00000418685:E1043K;ENSP00000420194:E1053K;ENSP00000296154:E1043K	ENSP00000296154:E1043K	E	+	1	0	CASR	123486618	1.000000	0.71417	0.365000	0.25901	0.042000	0.13812	4.814000	0.62627	2.741000	0.93983	0.555000	0.69702	GAG		0.557	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		17	127	0	0	0	1	0	17	127				
MRPL50	54534	broad.mit.edu	37	9	104152981	104152981	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr9:104152981G>C	ENST00000374865.4	-	2	265	c.244C>G	c.(244-246)Ctt>Gtt	p.L82V	MRPL50_ENST00000539624.1_Missense_Mutation_p.L82V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	82						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				TTACTAGGAAGAGATGAACCA	0.433																																						ENST00000374865.4																			0				large_intestine(1)|lung(2)|prostate(2)	5						c.(244-246)Ctt>Gtt		mitochondrial ribosomal protein L50							119.0	118.0	118.0					9																	104152981		2203	4299	6502	SO:0001583	missense	54534					mitochondrion|ribosome		g.chr9:104152981G>C	AK000500	CCDS6753.1	9q31.1	2012-11-14			ENSG00000136897	ENSG00000136897		"""Mitochondrial ribosomal proteins / large subunits"""	16654	protein-coding gene	gene with protein product	"""mitochondrial 39S ribosomal protein L50"""	611854					Standard	NM_019051		Approved	FLJ20493, MRP-L50	uc004bbe.2	Q8N5N7	OTTHUMG00000020384	ENST00000374865.4:c.244C>G	9.37:g.104152981G>C	ENSP00000363999:p.Leu82Val					MRPL50_ENST00000539624.1_Missense_Mutation_p.L82V	p.L82V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN			2	265	-		Acute lymphoblastic leukemia(62;0.0559)	82					B7Z358|Q5T7E0|Q9NX15	Missense_Mutation	SNP	ENST00000374865.4	37	c.244C>G	CCDS6753.1	.	.	.	.	.	.	.	.	.	.	G	5.933	0.356199	0.11239	.	.	ENSG00000136897	ENST00000374865;ENST00000539624	T;T	0.43294	0.95;0.95	5.78	2.87	0.33458	.	0.436358	0.21554	N	0.072686	T	0.26122	0.0637	N	0.19112	0.55	0.28845	N	0.896386	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.003	T	0.15235	-1.0444	10	0.06099	T	0.92	-4.4535	16.0981	0.81144	0.0:0.2123:0.7877:0.0	.	82;82	B7Z358;Q8N5N7	.;RM50_HUMAN	V	82	ENSP00000363999:L82V;ENSP00000443844:L82V	ENSP00000363999:L82V	L	-	1	0	MRPL50	103192802	0.057000	0.20700	0.835000	0.33067	0.657000	0.38888	0.321000	0.19558	0.796000	0.33947	0.563000	0.77884	CTT		0.433	MRPL50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053450.1	NM_019051		17	86	0	0	0	1	0	17	86				
FBN2	2201	broad.mit.edu	37	5	127873057	127873057	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:127873057C>T	ENST00000508053.1	-	7	1214	c.240G>A	c.(238-240)caG>caA	p.Q80Q	FBN2_ENST00000508989.1_Silent_p.Q80Q|FBN2_ENST00000262464.4_Silent_p.Q80Q			P35556	FBN2_HUMAN	fibrillin 2	80					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAGCACGTCCTGCTGTCCTC	0.682																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(238-240)caG>caA		fibrillin 2							20.0	22.0	21.0					5																	127873057		2200	4292	6492	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127873057C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.240G>A	5.37:g.127873057C>T						FBN2_ENST00000508989.1_Silent_p.Q80Q|FBN2_ENST00000262464.4_Silent_p.Q80Q	p.Q80Q			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	7	1214	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	80					B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.240G>A	CCDS34222.1																																																																																				0.682	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		6	14	0	0	0	1	0	6	14				
HEPH	9843	broad.mit.edu	37	X	65390540	65390540	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:65390540G>A	ENST00000343002.2	+	1	792	c.128G>A	c.(127-129)gGa>gAa	p.G43E	HEPH_ENST00000374727.3_Missense_Mutation_p.G46E|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000419594.1_Missense_Mutation_p.G46E|HEPH_ENST00000441993.2_Missense_Mutation_p.G46E|HEPH_ENST00000519389.1_Missense_Mutation_p.G97E			Q9BQS7	HEPH_HUMAN	hephaestin	43	Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GCTCCCAAGGGAAGAAATGTC	0.502																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(289-291)gGa>gAa		hephaestin							109.0	69.0	82.0					X																	65390540		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65390540G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.128G>A	X.37:g.65390540G>A	ENSP00000343939:p.Gly43Glu					HEPH_ENST00000419594.1_Missense_Mutation_p.G46E|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000441993.2_Missense_Mutation_p.G46E|HEPH_ENST00000374727.3_Missense_Mutation_p.G46E|HEPH_ENST00000343002.2_Missense_Mutation_p.G43E	p.G97E			Q9BQS7	HEPH_HUMAN			2	469	+			43			Plastocyanin-like 1.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.290G>A		.	.	.	.	.	.	.	.	.	.	G	16.05	3.013377	0.54468	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000458621;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27;-5.27;-5.27	5.01	3.19	0.36642	Cupredoxin (2);	0.292551	0.32430	N	0.006117	D	0.98172	0.9396	M	0.66297	2.02	0.38730	D	0.953654	P;B;D	0.54601	0.916;0.113;0.967	P;B;P	0.58620	0.558;0.061;0.842	D	0.97397	0.9993	10	0.34782	T	0.22	.	8.1896	0.31359	0.1994:0.0:0.8006:0.0	.	97;46;43	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	E	97;46;43;46;46;43;43	ENSP00000430620:G97E;ENSP00000363859:G46E;ENSP00000396907:G43E;ENSP00000411687:G46E;ENSP00000413211:G46E;ENSP00000343939:G43E;ENSP00000398078:G43E	ENSP00000343939:G43E	G	+	2	0	HEPH	65307265	1.000000	0.71417	0.988000	0.46212	0.932000	0.56968	4.828000	0.62730	1.087000	0.41251	0.513000	0.50165	GGA		0.502	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		11	19	0	0	0	1	0	11	19				
IL1B	3553	broad.mit.edu	37	2	113591057	113591057	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:113591057C>T	ENST00000263341.2	-	4	405	c.195G>A	c.(193-195)gcG>gcA	p.A65A	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	65					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	CAACAACTGACGCGGCCTGCC	0.582																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(193-195)gcG>gcA		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						132.0	123.0	126.0					2																	113591057		2203	4300	6503	SO:0001819	synonymous_variant	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113591057C>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.195G>A	2.37:g.113591057C>T						IL1B_ENST00000491056.1_5'UTR	p.A65A	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			4	405	-			65					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Silent	SNP	ENST00000263341.2	37	c.195G>A	CCDS2102.1																																																																																				0.582	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		28	143	0	0	0	1	0	28	143				
PCMTD2	55251	broad.mit.edu	37	20	62891516	62891516	+	Silent	SNP	G	G	A	rs572183204		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:62891516G>A	ENST00000308824.6	+	2	325	c.198G>A	c.(196-198)ccG>ccA	p.P66P	PCMTD2_ENST00000369758.4_Silent_p.P66P|PCMTD2_ENST00000299468.7_Silent_p.P66P|PCMTD2_ENST00000609372.1_Silent_p.P66P	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	66						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TCTCAGCCCCGTGCATCTACT	0.493																																						ENST00000308824.6																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17						c.(196-198)ccG>ccA		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2							137.0	136.0	136.0					20																	62891516		2203	4300	6503	SO:0001819	synonymous_variant	55251					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr20:62891516G>A	AK001745	CCDS13559.1, CCDS46631.1	20q13.33	2012-10-02	2005-10-06	2005-10-06	ENSG00000203880	ENSG00000203880			15882	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 36"""	C20orf36			Standard	NM_018257		Approved	FLJ10883	uc002yil.4	Q9NV79	OTTHUMG00000033029	ENST00000308824.6:c.198G>A	20.37:g.62891516G>A						PCMTD2_ENST00000369758.3_Silent_p.P66P|PCMTD2_ENST00000299468.7_Silent_p.P66P	p.P66P	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN			2	325	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		66					E1P5H3|Q8IW60|Q9H4K2	Silent	SNP	ENST00000308824.6	37	c.198G>A	CCDS13559.1																																																																																				0.493	PCMTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080301.1	NM_018257		77	81	0	0	0	1	0	77	81				
C10orf11	83938	broad.mit.edu	37	10	77807015	77807015	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr10:77807015G>A	ENST00000372499.1	+	3	483	c.268G>A	c.(268-270)Gag>Aag	p.E90K	C10orf11_ENST00000593699.1_3'UTR	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	90					melanocyte differentiation (GO:0030318)					endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					CTGTCCCAACGAGCTGGTCAG	0.507																																						ENST00000372499.1																			0				endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10						c.(268-270)Gag>Aag		chromosome 10 open reading frame 11							94.0	86.0	89.0					10																	77807015		2203	4300	6503	SO:0001583	missense	83938							g.chr10:77807015G>A	AF267860	CCDS7351.1	10q22.3	2013-08-22			ENSG00000148655	ENSG00000148655			23405	protein-coding gene	gene with protein product	"""oculocutaneous albinism 7, autosomal recessive"""	614537				23395477	Standard	NM_032024		Approved	CDA017, OCA7	uc001jxi.3	Q9H2I8	OTTHUMG00000018532	ENST00000372499.1:c.268G>A	10.37:g.77807015G>A	ENSP00000361577:p.Glu90Lys					C10orf11_ENST00000593699.1_3'UTR	p.E90K	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN			3	483	+	Prostate(51;0.0095)|all_epithelial(25;0.0221)		90					B1AVW6	Missense_Mutation	SNP	ENST00000372499.1	37	c.268G>A	CCDS7351.1	.	.	.	.	.	.	.	.	.	.	G	31	5.065110	0.93898	.	.	ENSG00000148655	ENST00000354343;ENST00000372499	T	0.34667	1.35	6.07	6.07	0.98685	.	0.051396	0.85682	D	0.000000	T	0.53142	0.1778	M	0.69358	2.11	0.44061	D	0.996805	D	0.52996	0.957	P	0.52598	0.703	T	0.44877	-0.9299	10	0.44086	T	0.13	-18.9068	20.6593	0.99626	0.0:0.0:1.0:0.0	.	90	Q9H2I8	CJ011_HUMAN	K	118;90	ENSP00000361577:E90K	ENSP00000346310:E118K	E	+	1	0	C10orf11	77477021	1.000000	0.71417	0.986000	0.45419	0.952000	0.60782	5.746000	0.68681	2.885000	0.99019	0.655000	0.94253	GAG		0.507	C10orf11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048839.1	NM_032024		4	61	0	0	0	1	0	4	61				
LAMA5	3911	broad.mit.edu	37	20	60913316	60913316	+	Silent	SNP	G	G	A	rs370141221		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:60913316G>A	ENST00000252999.3	-	13	1794	c.1728C>T	c.(1726-1728)ccC>ccT	p.P576P		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	576	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GAAAGTAGCCGGGGGCACAGC	0.672																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(1726-1728)ccC>ccT		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	A		1,4363		0,1,2181	33.0	30.0	31.0		1728	-10.8	0.1	20		31	0,8580		0,0,4290	no	coding-synonymous	LAMA5	NM_005560.3		0,1,6471	AA,AG,GG		0.0,0.0229,0.0077		576/3696	60913316	1,12943	2182	4290	6472	SO:0001819	synonymous_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60913316G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.1728C>T	20.37:g.60913316G>A							p.P576P	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		13	1794	-	Breast(26;1.57e-08)		576			Laminin EGF-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	37	c.1728C>T	CCDS33502.1																																																																																				0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		5	18	0	0	0	1	0	5	18				
OR5I1	10798	broad.mit.edu	37	11	55703134	55703134	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:55703134G>T	ENST00000301532.3	-	1	742	c.743C>A	c.(742-744)aCt>aAt	p.T248N		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	248					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGTCACTGAAGTCAGGTGAGA	0.433																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(742-744)aCt>aAt		olfactory receptor, family 5, subfamily I, member 1							76.0	74.0	75.0					11																	55703134		2201	4295	6496	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703134G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.743C>A	11.37:g.55703134G>T	ENSP00000301532:p.Thr248Asn						p.T248N	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	742	-			248					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.743C>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.400979	0.42613	.	.	ENSG00000167825	ENST00000301532	T	0.39229	1.09	5.16	2.25	0.28309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000167	T	0.69342	0.3100	H	0.96662	3.86	0.27946	N	0.937343	D	0.69078	0.997	D	0.64776	0.929	T	0.64980	-0.6279	10	0.87932	D	0	.	7.213	0.25945	0.1581:0.14:0.7018:0.0	.	248	Q13606	OR5I1_HUMAN	N	248	ENSP00000301532:T248N	ENSP00000301532:T248N	T	-	2	0	OR5I1	55459710	0.000000	0.05858	0.230000	0.23976	0.506000	0.33950	0.143000	0.16115	0.274000	0.22072	0.643000	0.83706	ACT		0.433	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		4	33	1	0	0.00909568	1	0.00922085	4	33				
DYNC2H1	79659	broad.mit.edu	37	11	103070182	103070182	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:103070182C>T	ENST00000375735.2	+	49	8209	c.8065C>T	c.(8065-8067)Cag>Tag	p.Q2689*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Q2689*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2689	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGAACTGAAGCAGTTCAAAAA	0.393																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(8065-8067)Cag>Tag		dynein, cytoplasmic 2, heavy chain 1							84.0	75.0	78.0					11																	103070182		1874	4117	5991	SO:0001587	stop_gained	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103070182C>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8065C>T	11.37:g.103070182C>T	ENSP00000364887:p.Gln2689*					DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.Q2689*	p.Q2689*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	49	8209	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	2689			AAA 4 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Nonsense_Mutation	SNP	ENST00000375735.2	37	c.8065C>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	C	50	16.438713	0.99863	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	.	.	.	6.17	6.17	0.99709	.	0.176488	0.37857	U	0.001916	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	2689	.	ENSP00000364887:Q2689X	Q	+	1	0	DYNC2H1	102575392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.929000	0.70096	2.941000	0.99782	0.655000	0.94253	CAG		0.393	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	15	0	0	0	1	0	3	15				
RASGEF1B	153020	broad.mit.edu	37	4	82366922	82366922	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:82366922T>C	ENST00000264400.2	-	7	951	c.800A>G	c.(799-801)tAc>tGc	p.Y267C	RASGEF1B_ENST00000509081.1_Missense_Mutation_p.Y266C|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Y225C	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	267	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						AGCAACCAAGTAGCTGAGGCG	0.368																																						ENST00000509081.1																			0				endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						c.(796-798)tAc>tGc		RasGEF domain family, member 1B							90.0	88.0	89.0					4																	82366922		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82366922T>C	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.800A>G	4.37:g.82366922T>C	ENSP00000264400:p.Tyr267Cys					RASGEF1B_ENST00000264400.2_Missense_Mutation_p.Y267C|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.Y225C	p.Y266C			Q0VAM2	RGF1B_HUMAN			7	1018	-			267			Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.797A>G	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.338761	0.81911	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000504863	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.44	5.44	0.79542	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.78456	2.415	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.73708	0.967;0.951;0.981	T	0.56475	-0.7973	10	0.40728	T	0.16	.	15.3248	0.74150	0.0:0.0:0.0:1.0	.	225;266;267	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	C	266;267;225;112	ENSP00000425393:Y266C;ENSP00000264400:Y267C;ENSP00000338437:Y225C;ENSP00000426929:Y112C	ENSP00000264400:Y267C	Y	-	2	0	RASGEF1B	82585946	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.802000	0.69122	2.285000	0.76669	0.533000	0.62120	TAC		0.368	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545		10	44	0	0	0	1	0	10	44				
ZFHX4	79776	broad.mit.edu	37	8	77617976	77617976	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:77617976C>G	ENST00000521891.2	+	2	2101	c.1653C>G	c.(1651-1653)aaC>aaG	p.N551K	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N551K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N551K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N551K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	551					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTGCTAGTAACTATGGCATCA	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(1651-1653)aaC>aaG		zinc finger homeobox 4							42.0	45.0	44.0					8																	77617976		2062	4217	6279	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77617976C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1653C>G	8.37:g.77617976C>G	ENSP00000430497:p.Asn551Lys	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.N551K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N551K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N551K	p.N551K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2101	+			551					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1653C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	6.909	0.537321	0.13188	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.47528	0.84;0.89;0.86;0.85	5.65	5.65	0.86999	.	0.456722	0.18007	U	0.154706	T	0.33265	0.0857	N	0.14661	0.345	0.44956	D	0.997974	B;B;B;B	0.20988	0.013;0.023;0.023;0.05	B;B;B;B	0.23852	0.022;0.049;0.049;0.037	T	0.15723	-1.0427	10	0.07030	T	0.85	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	551;551;551;551	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	K	551	ENSP00000430497:N551K;ENSP00000399605:N551K;ENSP00000050961:N551K;ENSP00000430848:N551K	ENSP00000050961:N551K	N	+	3	2	ZFHX4	77780531	1.000000	0.71417	0.102000	0.21198	0.971000	0.66376	4.427000	0.59888	2.941000	0.99782	0.655000	0.94253	AAC		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		27	33	0	0	0	1	0	27	33				
THAP7	80764	broad.mit.edu	37	22	21355551	21355551	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:21355551C>T	ENST00000215742.4	-	2	404	c.230G>A	c.(229-231)gGa>gAa	p.G77E	THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7_ENST00000399133.2_Missense_Mutation_p.G77E|THAP7-AS1_ENST00000429962.1_RNA	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	77					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCACCTGATTCCCACCAGCTC	0.652																																						ENST00000215742.4																			0				cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8						c.(229-231)gGa>gAa		THAP domain containing 7							91.0	92.0	91.0					22																	21355551		2203	4300	6503	SO:0001583	missense	80764				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding	g.chr22:21355551C>T	BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879	ENST00000215742.4:c.230G>A	22.37:g.21355551C>T	ENSP00000215742:p.Gly77Glu					THAP7_ENST00000399133.2_Missense_Mutation_p.G77E	p.G77E	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		2	404	-	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	77					B2RD97|D3DX40	Missense_Mutation	SNP	ENST00000215742.4	37	c.230G>A	CCDS13787.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169042	0.94768	.	.	ENSG00000184436	ENST00000215742;ENST00000399133	D;D	0.95918	-3.85;-3.85	5.32	5.32	0.75619	Zinc finger, C2CH-type (4);	0.893166	0.09476	N	0.796962	D	0.97284	0.9112	M	0.64170	1.965	0.53005	D	0.999966	D	0.76494	0.999	D	0.76575	0.988	D	0.94302	0.7538	10	0.33940	T	0.23	-25.8753	16.5385	0.84378	0.0:1.0:0.0:0.0	.	77	Q9BT49	THAP7_HUMAN	E	77	ENSP00000215742:G77E;ENSP00000382084:G77E	ENSP00000215742:G77E	G	-	2	0	THAP7	19685551	0.213000	0.23551	1.000000	0.80357	0.964000	0.63967	2.047000	0.41269	2.775000	0.95449	0.655000	0.94253	GGA		0.652	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320405.1	NM_030573		44	555	0	0	0	1	0	44	555				
EAF2	55840	broad.mit.edu	37	3	121554181	121554181	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:121554181C>G	ENST00000273668.2	+	1	120	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V	EAF2_ENST00000451944.2_Missense_Mutation_p.L17V|EAF2_ENST00000465664.1_3'UTR|IQCB1_ENST00000310864.6_5'Flank|IQCB1_ENST00000349820.6_5'Flank	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	17	Necessary for interaction with ELL.				apoptotic process (GO:0006915)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	ELL-EAF complex (GO:0032783)|transcription elongation factor complex (GO:0008023)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CGAGCGGGTTCTCAAGTTAGG	0.587																																					Esophageal Squamous(194;1942 2097 24663 29345 31866)	ENST00000273668.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9						c.(49-51)Ctc>Gtc		ELL associated factor 2							64.0	61.0	62.0					3																	121554181		2203	4300	6503	SO:0001583	missense	55840				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding	g.chr3:121554181C>G	AF517829	CCDS3006.1	3q21.1	2007-08-01			ENSG00000145088	ENSG00000145088			23115	protein-coding gene	gene with protein product		607659				12446457, 12907652	Standard	NM_018456		Approved	BM040, TRAITS, U19	uc003een.3	Q96CJ1	OTTHUMG00000159424	ENST00000273668.2:c.49C>G	3.37:g.121554181C>G	ENSP00000273668:p.Leu17Val					EAF2_ENST00000451944.2_Missense_Mutation_p.L17V|EAF2_ENST00000465664.1_3'UTR	p.L17V	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN		GBM - Glioblastoma multiforme(114;0.0972)	1	120	+			17			Necessary for interaction with ELL.		Q9NZ82	Missense_Mutation	SNP	ENST00000273668.2	37	c.49C>G	CCDS3006.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914796	0.92178	.	.	ENSG00000145088	ENST00000273668;ENST00000451944	.	.	.	5.95	5.95	0.96441	Transcription elognation factor  Eaf, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	M	0.63428	1.95	0.80722	D	1	D	0.67145	0.996	D	0.65684	0.937	T	0.68100	-0.5498	9	0.41790	T	0.15	-7.2496	11.1777	0.48610	0.0:0.9172:0.0:0.0828	.	17	Q96CJ1	EAF2_HUMAN	V	17	.	ENSP00000273668:L17V	L	+	1	0	EAF2	123036871	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	3.375000	0.52410	2.817000	0.96982	0.563000	0.77884	CTC		0.587	EAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355247.1	NM_018456		10	86	0	0	0	1	0	10	86				
CHD7	55636	broad.mit.edu	37	8	61654293	61654293	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr8:61654293C>T	ENST00000423902.2	+	2	781	c.302C>T	c.(301-303)cCg>cTg	p.P101L	CHD7_ENST00000525508.1_Missense_Mutation_p.P101L|CHD7_ENST00000524602.1_Missense_Mutation_p.P101L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	101					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTCGCGTCTCCGCACTCGCAG	0.532																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(301-303)cCg>cTg		chromodomain helicase DNA binding protein 7							60.0	64.0	63.0					8																	61654293		2152	4251	6403	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61654293C>T	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.302C>T	8.37:g.61654293C>T	ENSP00000392028:p.Pro101Leu					CHD7_ENST00000525508.1_Missense_Mutation_p.P101L|CHD7_ENST00000524602.1_Missense_Mutation_p.P101L	p.P101L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	781	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	101					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.302C>T	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672277	0.67928	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000524602;ENST00000525508	T;T;T	0.54071	0.59;0.59;0.59	5.36	4.49	0.54785	.	0.000000	0.39687	N	0.001290	T	0.48607	0.1509	L	0.50333	1.59	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48736	-0.9009	10	0.87932	D	0	-3.6683	14.1323	0.65263	0.0:0.9272:0.0:0.0728	.	101	Q9P2D1	CHD7_HUMAN	L	101	ENSP00000392028:P101L;ENSP00000437061:P101L;ENSP00000436027:P101L	ENSP00000307304:P101L	P	+	2	0	CHD7	61816847	1.000000	0.71417	0.986000	0.45419	0.989000	0.77384	4.860000	0.62961	1.275000	0.44379	0.585000	0.79938	CCG		0.532	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		11	35	0	0	0	1	0	11	35				
PDGFRA	5156	broad.mit.edu	37	4	55138567	55138567	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:55138567C>T	ENST00000257290.5	+	9	1575	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	415	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GCAGTTCCTTCATCCATTCTG	0.483			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1243-1245)tCa>tTa		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						142.0	131.0	134.0					4																	55138567		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55138567C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1244C>T	4.37:g.55138567C>T	ENSP00000257290:p.Ser415Leu	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.S415L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		9	1575	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		415			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1244C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763024	0.69763	.	.	ENSG00000134853	ENST00000257290	T	0.75154	-0.91	6.17	6.17	0.99709	.	0.745082	0.10405	U	0.678638	T	0.69495	0.3117	N	0.22421	0.69	0.80722	D	1	B;B	0.25390	0.125;0.054	B;B	0.28916	0.096;0.031	T	0.58340	-0.7653	10	0.35671	T	0.21	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	415;415	P16234-3;P16234	.;PGFRA_HUMAN	L	415	ENSP00000257290:S415L	ENSP00000257290:S415L	S	+	2	0	PDGFRA	54833324	0.724000	0.28038	0.008000	0.14137	0.013000	0.08279	6.423000	0.73361	2.941000	0.99782	0.655000	0.94253	TCA		0.483	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		9	122	0	0	0	1	0	9	122				
ST3GAL6	10402	broad.mit.edu	37	3	98507004	98507004	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:98507004C>T	ENST00000483910.1	+	7	845	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.L186F|ST3GAL6_ENST00000265261.6_Missense_Mutation_p.L68F	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	186					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GACAGTGATTCTCACTGCTTT	0.383																																						ENST00000265261.6																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						c.(202-204)Ctc>Ttc		ST3 beta-galactoside alpha-2,3-sialyltransferase 6							104.0	98.0	100.0					3																	98507004		2203	4300	6503	SO:0001583	missense	10402				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity	g.chr3:98507004C>T	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.556C>T	3.37:g.98507004C>T	ENSP00000417376:p.Leu186Phe					ST3GAL6_ENST00000394162.1_Missense_Mutation_p.L186F|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.L186F|ST3GAL6_ENST00000462152.1_3'UTR	p.L68F	NM_001271147.1	NP_001258076.1	Q9Y274	SIA10_HUMAN			7	624	+			186					B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	ENST00000483910.1	37	c.202C>T	CCDS2933.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279118	0.40294	.	.	ENSG00000064225	ENST00000483910;ENST00000265261;ENST00000497008;ENST00000486334;ENST00000394162;ENST00000485391;ENST00000492254;ENST00000485145	T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	4.84	4.84	0.62591	.	0.099447	0.43579	D	0.000541	T	0.40546	0.1121	M	0.64567	1.98	0.46241	D	0.998941	B;P;B	0.34892	0.413;0.474;0.091	B;B;B	0.36989	0.219;0.238;0.139	T	0.39375	-0.9617	10	0.54805	T	0.06	-37.5002	15.8184	0.78621	0.0:1.0:0.0:0.0	.	209;68;186	C9J480;F8W6U0;Q9Y274	.;.;SIA10_HUMAN	F	186;68;154;186;186;154;209;100	ENSP00000417376:L186F;ENSP00000265261:L68F;ENSP00000417584:L154F;ENSP00000418896:L186F;ENSP00000377717:L186F;ENSP00000418650:L154F;ENSP00000417201:L209F;ENSP00000419202:L100F	ENSP00000265261:L68F	L	+	1	0	ST3GAL6	99989694	1.000000	0.71417	0.884000	0.34674	0.264000	0.26372	1.926000	0.40084	2.671000	0.90904	0.563000	0.77884	CTC		0.383	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353013.2	NM_006100		12	36	0	0	0	1	0	12	36				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTCCACTCGGATAAGATGC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	41	0	0	0	1	0	25	41				
PAQR6	79957	broad.mit.edu	37	1	156213684	156213684	+	3'UTR	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:156213684G>C	ENST00000292291.5	-	0	1429				PAQR6_ENST00000356983.2_Missense_Mutation_p.L342V|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000335852.1_Missense_Mutation_p.L342V|PAQR6_ENST00000368270.1_3'UTR	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI							integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					TCCCCTCTCAGACCCTCAGCA	0.587																																					GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(1024-1026)Ctg>Gtg		progestin and adipoQ receptor family member VI							279.0	294.0	289.0					1																	156213684		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79957					integral to membrane	receptor activity	g.chr1:156213684G>C	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.*236C>G	1.37:g.156213684G>C						PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000292291.5_3'UTR|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Missense_Mutation_p.L342V|PAQR6_ENST00000360733.2_Missense_Mutation_p.L342V	p.L342V	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			7	1639	-	Hepatocellular(266;0.158)		0					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Missense_Mutation	SNP	ENST00000292291.5	37	c.1024C>G	CCDS1136.1	.	.	.	.	.	.	.	.	.	.	G	9.799	1.180118	0.21787	.	.	ENSG00000160781	ENST00000360733;ENST00000335852;ENST00000356983	T;T;T	0.39592	1.07;1.07;1.07	4.85	2.82	0.32997	.	.	.	.	.	T	0.20618	0.0496	N	0.08118	0	0.30567	N	0.763882	D;D;P	0.64830	0.982;0.994;0.939	P;P;P	0.58013	0.765;0.831;0.482	T	0.05716	-1.0868	9	0.87932	D	0	.	7.4501	0.27234	0.1043:0.1859:0.7098:0.0	.	274;202;342	B4DJ42;Q7Z4Q8;Q6TCH4-2	.;.;.	V	342	ENSP00000353961:L342V;ENSP00000338330:L342V;ENSP00000349474:L342V	ENSP00000338330:L342V	L	-	1	2	PAQR6	154480308	0.012000	0.17670	0.877000	0.34402	0.083000	0.17756	1.619000	0.36965	1.053000	0.40415	0.561000	0.74099	CTG		0.587	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		97	492	0	0	0	1	0	97	492				
ZC3H4	23211	broad.mit.edu	37	19	47570716	47570716	+	Missense_Mutation	SNP	C	C	T	rs368486156		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:47570716C>T	ENST00000253048.5	-	15	2846	c.2809G>A	c.(2809-2811)Gtg>Atg	p.V937M	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	937							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGAATGTTCACGGCCTTCTCC	0.667																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2809-2811)Gtg>Atg		zinc finger CCCH-type containing 4		C	MET/VAL	0,4000		0,0,2000	74.0	87.0	83.0		2809	4.1	0.1	19		83	1,8295		0,1,4147	no	missense	ZC3H4	NM_015168.1	21	0,1,6147	TT,TC,CC		0.0121,0.0,0.0081	benign	937/1304	47570716	1,12295	2000	4148	6148	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47570716C>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2809G>A	19.37:g.47570716C>T	ENSP00000253048:p.Val937Met					ZC3H4_ENST00000594019.1_Intron	p.V937M	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	15	2846	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	937					Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2809G>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.895846	0.33442	0.0	1.21E-4	ENSG00000130749	ENST00000253048	T	0.23147	1.92	5.17	4.12	0.48240	.	0.327536	0.27861	N	0.017549	T	0.31295	0.0792	L	0.58101	1.795	0.47308	D	0.999385	D	0.58970	0.984	P	0.47015	0.534	T	0.10405	-1.0631	10	0.59425	D	0.04	.	12.1544	0.54068	0.0:0.9109:0.0:0.0891	.	937	Q9UPT8	ZC3H4_HUMAN	M	937	ENSP00000253048:V937M	ENSP00000253048:V937M	V	-	1	0	ZC3H4	52262556	0.889000	0.30405	0.149000	0.22428	0.358000	0.29455	1.839000	0.39220	1.245000	0.43885	0.563000	0.77884	GTG		0.667	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			50	174	0	0	0	1	0	50	174				
HIST1H2BA	255626	broad.mit.edu	37	6	25727227	25727227	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:25727227C>T	ENST00000274764.2	+	1	91	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	31					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)	2						AGGCAAAAAGCGCAAGAGGAC	0.448																																						ENST00000274764.2																			0				breast(1)|kidney(1)	2						c.(91-93)Cgc>Tgc		histone cluster 1, H2ba							336.0	285.0	302.0					6																	25727227		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727227C>T	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.91C>T	6.37:g.25727227C>T	ENSP00000274764:p.Arg31Cys						p.R31C	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN			1	91	+			31					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.91C>T	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042679	0.35989	.	.	ENSG00000146047	ENST00000274764	T	0.23348	1.91	3.07	2.2	0.27929	Histone-fold (2);	0.000000	0.64402	D	0.000005	T	0.06371	0.0164	N	0.24115	0.695	0.42479	D	0.992853	D	0.57899	0.981	B	0.36989	0.238	T	0.15464	-1.0436	10	0.52906	T	0.07	.	9.5048	0.39040	0.0:0.8883:0.0:0.1117	.	31	Q96A08	H2B1A_HUMAN	C	31	ENSP00000274764:R31C	ENSP00000274764:R31C	R	+	1	0	HIST1H2BA	25835206	0.052000	0.20516	0.003000	0.11579	0.001000	0.01503	1.039000	0.30266	0.866000	0.35629	0.585000	0.79938	CGC		0.448	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610		19	91	0	0	0	1	0	19	91				
ENTPD2	954	broad.mit.edu	37	9	139944405	139944405	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr9:139944405G>A	ENST00000355097.2	-	7	1113	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000460614.1_5'Flank|ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	356					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCGAAGTCCGCAAAAAGTCC	0.647											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355097.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.(1066-1068)Cgg>Tgg		ectonucleoside triphosphate diphosphohydrolase 2							50.0	57.0	54.0					9																	139944405		2202	4299	6501	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139944405G>A	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1066C>T	9.37:g.139944405G>A	ENSP00000347213:p.Arg356Trp		OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_ENST00000312665.5_Missense_Mutation_p.R356W	p.R356W	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	7	1113	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	356					O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.1066C>T	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858624	0.32791	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.11712	2.75;2.75	4.33	0.364	0.16124	.	0.673516	0.15484	N	0.259909	T	0.24624	0.0597	L	0.59436	1.845	0.09310	N	1	D;D	0.89917	0.999;1.0	P;D	0.65773	0.897;0.938	T	0.06552	-1.0820	10	0.72032	D	0.01	-34.9035	12.0873	0.53704	0.0:0.0:0.5375:0.4625	.	356;356	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	W	356	ENSP00000347213:R356W;ENSP00000312494:R356W	ENSP00000312494:R356W	R	-	1	2	ENTPD2	139064226	0.000000	0.05858	0.254000	0.24359	0.142000	0.21351	0.253000	0.18296	0.188000	0.20168	-0.397000	0.06425	CGG		0.647	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		4	110	0	0	0	1	0	4	110				
ABCB9	23457	broad.mit.edu	37	12	123434446	123434446	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:123434446G>A	ENST00000542678.1	-	4	3574	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	ABCB9_ENST00000442833.2_Missense_Mutation_p.R246W|ABCB9_ENST00000392439.3_Missense_Mutation_p.R246W|ABCB9_ENST00000346530.5_Missense_Mutation_p.R246W|ABCB9_ENST00000344275.7_Missense_Mutation_p.R246W|ABCB9_ENST00000280560.8_Missense_Mutation_p.R246W|ABCB9_ENST00000540285.1_Missense_Mutation_p.R246W|ABCB9_ENST00000442028.2_Missense_Mutation_p.R246W			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	246	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)	p.R246W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ATGCCGCCCCGAATACCTGCG	0.527																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			1	Substitution - Missense(1)	p.R246W(1)	skin(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(736-738)Cgg>Tgg		ATP-binding cassette, sub-family B (MDR/TAP), member 9							127.0	128.0	128.0					12																	123434446		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123434446G>A	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.736C>T	12.37:g.123434446G>A	ENSP00000440288:p.Arg246Trp					ABCB9_ENST00000540285.1_Missense_Mutation_p.R246W|ABCB9_ENST00000280560.8_Missense_Mutation_p.R246W|ABCB9_ENST00000442028.2_Missense_Mutation_p.R246W|ABCB9_ENST00000344275.7_Missense_Mutation_p.R246W|ABCB9_ENST00000442833.2_Missense_Mutation_p.R246W|ABCB9_ENST00000346530.5_Missense_Mutation_p.R246W|ABCB9_ENST00000392439.3_Missense_Mutation_p.R246W	p.R246W			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	4	3574	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		246			ABC transmembrane type-1.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.736C>T	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604746	0.87157	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000541424	D;D;D;D;D;D;D	0.89485	-2.51;-2.51;-2.51;-2.51;-2.51;-2.51;-2.52	5.54	5.54	0.83059	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95950	0.8681	M	0.90922	3.16	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.997;1.0	D	0.96276	0.9202	10	0.87932	D	0	-40.8532	19.8311	0.96636	0.0:0.0:1.0:0.0	.	246;246;28;246;246	B4E2J0;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;ABCB9_HUMAN	W	246;246;246;246;246;246;25	ENSP00000280560:R246W;ENSP00000441734:R246W;ENSP00000280559:R246W;ENSP00000376234:R246W;ENSP00000440288:R246W;ENSP00000394898:R246W;ENSP00000440138:R25W	ENSP00000280560:R246W	R	-	1	2	ABCB9	122000399	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.301000	0.72782	2.768000	0.95171	0.561000	0.74099	CGG		0.527	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		4	184	0	0	0	1	0	4	184				
OR2G2	81470	broad.mit.edu	37	1	247751914	247751914	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:247751914C>A	ENST00000320065.1	+	1	253	c.253C>A	c.(253-255)Ctg>Atg	p.L85M	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCCAGCTCCTGGTAAACCT	0.512																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(253-255)Ctg>Atg		olfactory receptor, family 2, subfamily G, member 2							184.0	155.0	165.0					1																	247751914		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751914C>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.253C>A	1.37:g.247751914C>A	ENSP00000326349:p.Leu85Met					RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	p.L85M	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	253	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		85					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.253C>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989885	0.54041	.	.	ENSG00000177489	ENST00000320065	T	0.00377	7.69	4.29	2.35	0.29111	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28618	U	0.014716	T	0.00936	0.0031	M	0.88241	2.94	0.09310	N	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.33214	-0.9877	10	0.87932	D	0	.	6.4966	0.22146	0.0:0.6905:0.0:0.3095	.	85	Q8NGZ5	OR2G2_HUMAN	M	85	ENSP00000326349:L85M	ENSP00000326349:L85M	L	+	1	2	OR2G2	245818537	0.014000	0.17966	0.956000	0.39512	0.984000	0.73092	-0.211000	0.09332	1.014000	0.39417	-0.214000	0.12660	CTG		0.512	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			10	171	1	0	4.68919e-08	1	5.13025e-08	10	171				
EHBP1L1	254102	broad.mit.edu	37	11	65347886	65347886	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65347886G>A	ENST00000309295.4	+	6	835	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	190						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTTTGCTGAGAGTGATGAAG	0.592																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(568-570)gaG>gaA		EH domain binding protein 1-like 1							101.0	106.0	104.0					11																	65347886		2120	4232	6352	SO:0001819	synonymous_variant	254102							g.chr11:65347886G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.570G>A	11.37:g.65347886G>A							p.E190E	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			6	835	+			190					Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	c.570G>A	CCDS44649.1																																																																																				0.592	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		20	77	0	0	0	1	0	20	77				
PDE2A	5138	broad.mit.edu	37	11	72296444	72296444	+	Silent	SNP	C	C	T	rs376835526		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:72296444C>T	ENST00000334456.5	-	16	1502	c.1257G>A	c.(1255-1257)acG>acA	p.T419T	PDE2A_ENST00000444035.2_Silent_p.T410T|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000376450.3_Silent_p.T163T|PDE2A_ENST00000418754.2_Silent_p.T304T|PDE2A_ENST00000544570.1_Silent_p.T412T|PDE2A_ENST00000540345.1_Silent_p.T410T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	419	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TTCTGGCCTCCGTGATGATCT	0.602											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1255-1257)acG>acA		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)	G	,,	1,4399	2.1+/-5.4	0,1,2199	89.0	69.0	76.0		1236,1230,1257	-5.3	1.0	11		76	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	PDE2A	NM_001143839.3,NM_001146209.2,NM_002599.4	,,	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	,,	412/935,410/933,419/942	72296444	1,12985	2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72296444C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1257G>A	11.37:g.72296444C>T			OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1136	PDE2A_ENST00000444035.2_Silent_p.T410T|PDE2A_ENST00000418754.2_Silent_p.T304T|PDE2A_ENST00000376450.3_Silent_p.T163T|PDE2A_ENST00000540345.1_Silent_p.T410T|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Silent_p.T412T	p.T419T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		16	1502	-			419			GAF 2.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1257G>A	CCDS8216.1																																																																																				0.602	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		10	84	0	0	0	1	0	10	84				
HSPA6	3310	broad.mit.edu	37	1	161495172	161495172	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:161495172C>T	ENST00000309758.4	+	1	1137	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	242					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCTCGTGAACCACTTCATGGA	0.602																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(724-726)Cac>Tac		heat shock 70kDa protein 6 (HSP70B')							11.0	13.0	12.0					1																	161495172		2196	4266	6462	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495172C>T		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.724C>T	1.37:g.161495172C>T	ENSP00000310219:p.His242Tyr						p.H242Y	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1137	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		242					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.724C>T	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	3.033	-0.199162	0.06219	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.00986	5.47	3.33	1.27	0.21489	.	0.150656	0.30374	U	0.009762	T	0.00754	0.0025	N	0.16656	0.425	0.43342	D	0.995394	D	0.76494	0.999	D	0.75020	0.985	T	0.70360	-0.4893	10	0.87932	D	0	-12.3496	7.5936	0.28035	0.1627:0.7315:0.0:0.1058	.	242	P17066	HSP76_HUMAN	Y	242;218	ENSP00000310219:H242Y	ENSP00000310219:H242Y	H	+	1	0	HSPA6	159761796	1.000000	0.71417	0.002000	0.10522	0.004000	0.04260	2.389000	0.44407	-0.191000	0.10448	-1.120000	0.02017	CAC		0.602	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		13	33	0	0	0	1	0	13	33				
MYOM1	8736	broad.mit.edu	37	18	3188826	3188826	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:3188826G>C	ENST00000356443.4	-	4	1024	c.691C>G	c.(691-693)Caa>Gaa	p.Q231E	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Missense_Mutation_p.Q231E|MYOM1_ENST00000261606.7_Missense_Mutation_p.Q231E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	231					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCTTCCTGTTGAAGAGCGGAT	0.493																																						ENST00000356443.4																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(691-693)Caa>Gaa		myomesin 1							136.0	128.0	131.0					18																	3188826		1965	4150	6115	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188826G>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.691C>G	18.37:g.3188826G>C	ENSP00000348821:p.Gln231Glu					MYOM1_ENST00000400569.3_Missense_Mutation_p.Q231E|MYOM1_ENST00000261606.7_Missense_Mutation_p.Q231E	p.Q231E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN			4	1024	-			231					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.691C>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	G	8.495	0.862858	0.17178	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.42513	1.1;1.11;0.97	5.33	1.17	0.20885	.	0.808315	0.11611	N	0.546797	T	0.14227	0.0344	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.31943	-0.9925	10	0.02654	T	1	.	4.5661	0.12187	0.2593:0.3093:0.4314:0.0	.	231;231	P52179-2;P52179	.;MYOM1_HUMAN	E	231	ENSP00000348821:Q231E;ENSP00000383413:Q231E;ENSP00000261606:Q231E	ENSP00000261606:Q231E	Q	-	1	0	MYOM1	3178826	0.545000	0.26449	0.001000	0.08648	0.524000	0.34500	1.400000	0.34577	0.302000	0.22762	0.603000	0.83216	CAA		0.493	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		20	48	0	0	0	1	0	20	48				
KLRC3	3823	broad.mit.edu	37	12	10572189	10572189	+	Intron	SNP	A	A	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:10572189A>C	ENST00000396439.2	-	2	331				NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000381903.2_Intron|KLRC3_ENST00000381904.2_Missense_Mutation_p.L97R	NM_002261.2	NP_002252.2	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C, member 3						cellular defense response (GO:0006968)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						GTTCTGCTCCAGGACTGTAAT	0.254																																						ENST00000381904.2																			0				large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(289-291)cTg>cGg		killer cell lectin-like receptor subfamily C, member 3							27.0	29.0	28.0					12																	10572189		872	1986	2858	SO:0001627	intron_variant	3823							g.chr12:10572189A>C	L14542	CCDS31744.1, CCDS41755.1	12p13	2008-08-05			ENSG00000205810	ENSG00000205810		"""Killer cell lectin-like receptors"""	6376	protein-coding gene	gene with protein product		602892				9598306	Standard	NM_002261		Approved	NKG2-E	uc001qyi.1	Q07444	OTTHUMG00000167149	ENST00000396439.2:c.286+275T>G	12.37:g.10572189A>C						KLRC3_ENST00000396439.2_Intron|KLRC3_ENST00000381903.2_Intron|NKG2-E_ENST00000539033.1_Intron	p.L97R							3	289	-								Q8WXA4|Q96RL0|Q9UP04	Missense_Mutation	SNP	ENST00000396439.2	37	c.290T>G	CCDS41755.1	.	.	.	.	.	.	.	.	.	.	-	0.751	-0.772775	0.02951	.	.	ENSG00000205810	ENST00000381904	T	0.09445	2.98	1.02	-0.472	0.12115	.	.	.	.	.	T	0.04588	0.0125	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44651	-0.9314	6	0.15066	T	0.55	.	2.9661	0.05908	0.6013:0.0:0.0:0.3987	.	.	.	.	R	97	ENSP00000371329:L97R	ENSP00000371329:L97R	L	-	2	0	KLRC3	10463456	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.983000	0.03759	-0.115000	0.11915	-0.898000	0.02899	CTG		0.254	KLRC3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393471.1	NM_002261		5	37	0	0	0	1	0	5	37				
SDHAP1	255812	broad.mit.edu	37	3	195711466	195711466	+	RNA	SNP	G	G	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:195711466G>T	ENST00000427841.1	-	0	481					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		GCCCATCACCGCGACCATGGC	0.582																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			255812							g.chr3:195711466G>T	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711466G>T								NR_003264.2						0	481	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.582	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	59	1	0	0.00116845	1	0.00119549	4	59				
SLC34A3	142680	broad.mit.edu	37	9	140128975	140128975	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr9:140128975C>T	ENST00000538474.1	+	11	1425	c.1201C>T	c.(1201-1203)Ccc>Tcc	p.P401S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.P401S	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	401					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCCGTCGTGCCCCTCATGGG	0.716																																						ENST00000538474.1																			0				kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1201-1203)Ccc>Tcc		solute carrier family 34 (type II sodium/phosphate contransporter), member 3							16.0	21.0	19.0					9																	140128975		2185	4290	6475	SO:0001583	missense	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128975C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1201C>T	9.37:g.140128975C>T	ENSP00000442397:p.Pro401Ser					SLC34A3_ENST00000361134.2_Missense_Mutation_p.P401S	p.P401S	NM_001177316.1|NM_001177317.1	NP_001170787.1|NP_001170788.1	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1425	+	all_cancers(76;0.0926)		401					A2BFA1	Missense_Mutation	SNP	ENST00000538474.1	37	c.1201C>T	CCDS7038.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640152	0.87760	.	.	ENSG00000198569	ENST00000538474;ENST00000361134	D;D	0.84800	-1.9;-1.9	3.51	3.51	0.40186	.	0.000000	0.52532	D	0.000073	D	0.83797	0.5332	N	0.16903	0.455	0.52099	D	0.999948	D	0.64830	0.994	P	0.62184	0.899	D	0.85997	0.1492	10	0.66056	D	0.02	-26.7509	12.8845	0.58036	0.0:1.0:0.0:0.0	.	401	Q8N130	NPT2C_HUMAN	S	401	ENSP00000442397:P401S;ENSP00000355353:P401S	ENSP00000355353:P401S	P	+	1	0	SLC34A3	139248796	0.990000	0.36364	0.178000	0.23040	0.926000	0.56050	3.448000	0.52943	1.948000	0.56530	0.448000	0.29417	CCC		0.716	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		18	31	0	0	0	1	0	18	31				
TRIO	7204	broad.mit.edu	37	5	14304622	14304622	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:14304622C>T	ENST00000344204.4	+	8	1445	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	TRIO_ENST00000509967.2_Missense_Mutation_p.P425L|TRIO_ENST00000537187.1_Missense_Mutation_p.P474L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	474					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTAGACCTTCCCTCAGAGCTG	0.393																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(1420-1422)cCc>cTc		trio Rho guanine nucleotide exchange factor							206.0	175.0	185.0					5																	14304622		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14304622C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1421C>T	5.37:g.14304622C>T	ENSP00000339299:p.Pro474Leu					TRIO_ENST00000537187.1_Missense_Mutation_p.P474L|TRIO_ENST00000509967.2_Missense_Mutation_p.P425L	p.P474L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			8	1445	+	Lung NSC(4;0.000742)		474					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.1421C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261821	0.80358	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.68624	-0.34;-0.33;0.3	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.82870	0.5131	M	0.82056	2.57	0.80722	D	1	D;P;D	0.89917	1.0;0.937;1.0	D;P;D	0.97110	1.0;0.748;0.996	T	0.83029	-0.0163	10	0.41790	T	0.15	.	18.7131	0.91666	0.0:1.0:0.0:0.0	.	425;474;474	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	L	474;474;425;161	ENSP00000339299:P474L;ENSP00000446348:P474L;ENSP00000445592:P425L	ENSP00000339299:P474L	P	+	2	0	TRIO	14357622	1.000000	0.71417	0.944000	0.38274	0.991000	0.79684	7.792000	0.85828	2.427000	0.82271	0.650000	0.86243	CCC		0.393	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		24	96	0	0	0	1	0	24	96				
MT1L	4500	broad.mit.edu	37	16	56652578	56652578	+	RNA	SNP	A	A	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:56652578A>G	ENST00000565768.1	+	0	259					NR_001447.2		Q93083	MT1L_HUMAN	metallothionein 1L (gene/pseudogene)						cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										GGAGAAGTGCAGCTGCTGTGC	0.567																																						ENST00000565768.1																			0													metallothionein 1L (gene/pseudogene)																																						4500							g.chr16:56652578A>G	X97261		16q13	2012-04-20	2007-03-02		ENSG00000260549	ENSG00000260549		"""Metallothioneins"""	7404	protein-coding gene	gene with protein product		156358		MT1		16395595, 8049263, 9074634	Standard	NR_001447		Approved	MTF, MT1R	uc002ejj.4	Q93083	OTTHUMG00000176212		16.37:g.56652578A>G								NR_001447.2						0	259	+									RNA	SNP	ENST00000565768.1	37																																																																																						0.567	MT1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000434383.1			4	192	0	0	0	1	0	4	192				
PDZD2	23037	broad.mit.edu	37	5	32088217	32088217	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr5:32088217G>A	ENST00000438447.1	+	20	5051	c.4663G>A	c.(4663-4665)Gct>Act	p.A1555T	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1555T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1555					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTATGGCGATGCTGAGGATTC	0.537																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(4663-4665)Gct>Act		PDZ domain containing 2							70.0	68.0	69.0					5																	32088217		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088217G>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4663G>A	5.37:g.32088217G>A	ENSP00000402033:p.Ala1555Thr					PDZD2_ENST00000282493.3_Missense_Mutation_p.A1555T	p.A1555T			O15018	PDZD2_HUMAN			20	5051	+			1555					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4663G>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059791	0.55325	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.30448	1.53;1.53	5.36	4.46	0.54185	.	0.244705	0.29198	N	0.012852	T	0.37156	0.0993	L	0.59436	1.845	0.29639	N	0.844872	P	0.52316	0.952	P	0.47075	0.536	T	0.40608	-0.9554	10	0.66056	D	0.02	.	12.8856	0.58042	0.0:0.0:0.836:0.164	.	1555	O15018	PDZD2_HUMAN	T	1555;1356;1555	ENSP00000402033:A1555T;ENSP00000282493:A1555T	ENSP00000282493:A1555T	A	+	1	0	PDZD2	32123974	1.000000	0.71417	0.074000	0.20217	0.246000	0.25737	5.054000	0.64275	1.213000	0.43380	0.655000	0.94253	GCT		0.537	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			27	75	0	0	0	1	0	27	75				
PLXNA3	55558	broad.mit.edu	37	X	153697014	153697014	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:153697014C>T	ENST00000369682.3	+	24	4404	c.4229C>T	c.(4228-4230)tCa>tTa	p.S1410L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1410					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGACAGAGTCAGTGGCTGAG	0.627																																						ENST00000369682.3																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48						c.(4228-4230)tCa>tTa		plexin A3							92.0	78.0	83.0					X																	153697014		2202	4300	6502	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153697014C>T	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4229C>T	X.37:g.153697014C>T	ENSP00000358696:p.Ser1410Leu						p.S1410L	NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN			24	4404	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1410					Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.4229C>T	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.390788	0.82902	.	.	ENSG00000130827	ENST00000369682	T	0.24538	1.85	5.17	5.17	0.71159	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	M	0.86268	2.805	0.80722	D	1	D	0.58620	0.983	D	0.66351	0.943	T	0.63296	-0.6669	10	0.87932	D	0	.	16.6896	0.85318	0.0:1.0:0.0:0.0	.	1410	P51805	PLXA3_HUMAN	L	1410	ENSP00000358696:S1410L	ENSP00000358696:S1410L	S	+	2	0	PLXNA3	153350208	1.000000	0.71417	0.920000	0.36463	0.890000	0.51754	7.767000	0.85331	2.286000	0.76751	0.597000	0.82753	TCA		0.627	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		12	48	0	0	0	1	0	12	48				
NAGA	4668	broad.mit.edu	37	22	42457071	42457071	+	Splice_Site	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:42457071C>T	ENST00000396398.3	-	8	1490	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	NAGA_ENST00000402937.1_Splice_Site_p.E320K|NAGA_ENST00000403363.1_Splice_Site_p.E320K	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	320					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGAGATTTTTCCTGGGCACAG	0.567																																						ENST00000396398.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.e8-1		N-acetylgalactosaminidase, alpha-							85.0	70.0	75.0					22																	42457071		2203	4300	6503	SO:0001630	splice_region_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42457071C>T		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.958-1G>A	22.37:g.42457071C>T						NAGA_ENST00000402937.1_Splice_Site_p.E320_splice|NAGA_ENST00000403363.1_Splice_Site_p.E320_splice	p.E320_splice	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN			8	1490	-			320						Splice_Site	SNP	ENST00000396398.3	37	c.957_splice	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	C	7.324	0.617599	0.14129	.	.	ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937	D;D;D	0.99928	-8.07;-8.07;-8.07	5.68	1.89	0.25635	Glycosyl hydrolase, family 13, all-beta (1);	0.872377	0.10178	N	0.706286	D	0.99441	0.9802	L	0.42529	1.33	0.44660	D	0.997647	B	0.22746	0.074	B	0.12837	0.008	D	0.99998	1.6744	10	0.11182	T	0.66	-8.0986	8.0602	0.30629	0.0:0.6984:0.1347:0.1669	.	320	P17050	NAGAB_HUMAN	K	320	ENSP00000379680:E320K;ENSP00000385283:E320K;ENSP00000384603:E320K	ENSP00000379680:E320K	E	-	1	0	NAGA	40787017	1.000000	0.71417	0.851000	0.33527	0.066000	0.16364	3.096000	0.50243	0.694000	0.31654	0.609000	0.83330	GAA		0.567	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1		Missense_Mutation	11	37	0	0	0	1	0	11	37				
KCNA6	3742	broad.mit.edu	37	12	4920199	4920199	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:4920199A>G	ENST00000280684.3	+	1	1858	c.992A>G	c.(991-993)aAt>aGt	p.N331S	KCNA6_ENST00000433855.1_Missense_Mutation_p.N331S|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	331					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GGCGGCCAGAATGGGCAGCAG	0.617										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(991-993)aAt>aGt		potassium voltage-gated channel, shaker-related subfamily, member 6							48.0	43.0	45.0					12																	4920199		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920199A>G	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.992A>G	12.37:g.4920199A>G	ENSP00000280684:p.Asn331Ser	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.N331S	p.N331S	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1858	+			331						Missense_Mutation	SNP	ENST00000280684.3	37	c.992A>G	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	A	6.028	0.373479	0.11409	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.97328	-4.34;-4.34	5.18	5.18	0.71444	Ion transport (1);	0.361789	0.24549	N	0.037571	D	0.89121	0.6625	N	0.03930	-0.32	0.33563	D	0.597653	B	0.22604	0.072	B	0.20577	0.03	D	0.85185	0.1006	10	0.02654	T	1	.	12.9032	0.58137	1.0:0.0:0.0:0.0	.	331	P17658	KCNA6_HUMAN	S	331	ENSP00000408321:N331S;ENSP00000280684:N331S	ENSP00000280684:N331S	N	+	2	0	KCNA6	4790460	1.000000	0.71417	0.994000	0.49952	0.933000	0.57130	4.428000	0.59894	2.172000	0.68678	0.533000	0.62120	AAT		0.617	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		15	71	0	0	0	1	0	15	71				
DNM1P47	100216544	broad.mit.edu	37	15	102304740	102304740	+	RNA	SNP	G	G	A	rs7169420		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr15:102304740G>A	ENST00000561463.1	+	0	12786									DNM1 pseudogene 47																		GAAGACACTCGTGGAGGAGTC	0.612																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102304740G>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304740G>A														0	12786	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.612	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	19	0	0	0	1	0	3	19				
SALL3	27164	broad.mit.edu	37	18	76753377	76753377	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:76753377C>T	ENST00000537592.2	+	2	1386	c.1386C>T	c.(1384-1386)aaC>aaT	p.N462N	SALL3_ENST00000575389.2_Silent_p.N462N|SALL3_ENST00000536229.3_Silent_p.N329N	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	462					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCAAAGGCAACCTGAAGGTGC	0.622																																						ENST00000536229.3																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(985-987)aaC>aaT		spalt-like transcription factor 3							48.0	39.0	42.0					18																	76753377		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76753377C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.1386C>T	18.37:g.76753377C>T						SALL3_ENST00000575389.2_Silent_p.N462N|SALL3_ENST00000537592.2_Silent_p.N462N	p.N329N			Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	1	1696	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	462					Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.987C>T	CCDS12013.1																																																																																				0.622	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		8	26	0	0	0	1	0	8	26				
STRA8	346673	broad.mit.edu	37	7	134927560	134927560	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:134927560C>T	ENST00000275764.3	+	3	286	c.286C>T	c.(286-288)Cat>Tat	p.H96Y		NM_182489.1	NP_872295.1			stimulated by retinoic acid 8									p.H96N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						GGCAAAGAGTCATATTCCAGA	0.483																																						ENST00000275764.3																			1	Substitution - Missense(1)	p.H96N(1)	urinary_tract(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						c.(286-288)Cat>Tat		stimulated by retinoic acid 8							109.0	108.0	108.0					7																	134927560		2203	4300	6503	SO:0001583	missense	346673				DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		g.chr7:134927560C>T	AF513502	CCDS5839.1	7q33	2012-12-07	2012-12-07		ENSG00000146857	ENSG00000146857			30653	protein-coding gene	gene with protein product		609987	"""stimulated by retinoic acid gene 8 homolog (mouse)"", ""stimulated by retinoic acid 8 homolog (mouse)"""			12489526	Standard	NM_182489		Approved		uc011kpx.2	Q7Z7C7	OTTHUMG00000155415	ENST00000275764.3:c.286C>T	7.37:g.134927560C>T	ENSP00000275764:p.His96Tyr						p.H96Y	NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN			3	286	+			96						Missense_Mutation	SNP	ENST00000275764.3	37	c.286C>T	CCDS5839.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.441188	0.01098	.	.	ENSG00000146857	ENST00000275764	D	0.96041	-3.89	5.14	2.38	0.29361	Helix-loop-helix DNA-binding (1);	0.761307	0.12230	N	0.487504	D	0.87795	0.6267	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.73877	-0.3844	10	0.13470	T	0.59	-3.7917	7.4571	0.27272	0.0:0.5163:0.0:0.4837	.	96	Q7Z7C7	STRA8_HUMAN	Y	96	ENSP00000275764:H96Y	ENSP00000275764:H96Y	H	+	1	0	STRA8	134578100	0.001000	0.12720	0.001000	0.08648	0.038000	0.13279	1.172000	0.31908	0.211000	0.20683	-0.463000	0.05309	CAT		0.483	STRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340028.1	NM_182489		24	85	0	0	0	1	0	24	85				
EHBP1L1	254102	broad.mit.edu	37	11	65349278	65349278	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65349278G>A	ENST00000309295.4	+	9	1400	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	379						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTCAAGGCTGAAGAGATGGA	0.572																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1135-1137)Gaa>Aaa		EH domain binding protein 1-like 1							58.0	67.0	64.0					11																	65349278		2068	4204	6272	SO:0001583	missense	254102							g.chr11:65349278G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1135G>A	11.37:g.65349278G>A	ENSP00000312671:p.Glu379Lys						p.E379K	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1400	+			379					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1135G>A	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.180913	0.57800	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;D	0.81739	-0.48;-1.53	4.24	-0.0196	0.13959	.	0.157537	0.30020	N	0.010606	T	0.65123	0.2661	L	0.36672	1.1	0.20196	N	0.999922	B	0.21452	0.056	B	0.17722	0.019	T	0.56878	-0.7906	10	0.87932	D	0	.	2.7777	0.05352	0.1033:0.34:0.3825:0.1742	.	379	Q8N3D4	EH1L1_HUMAN	K	379	ENSP00000312671:E379K;ENSP00000431996:E379K	ENSP00000312671:E379K	E	+	1	0	EHBP1L1	65105854	0.002000	0.14202	0.003000	0.11579	0.006000	0.05464	0.432000	0.21461	0.433000	0.26313	0.561000	0.74099	GAA		0.572	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		11	29	0	0	0	1	0	11	29				
DCC	1630	broad.mit.edu	37	18	51013227	51013227	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:51013227C>T	ENST00000442544.2	+	26	4413	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	DCC_ENST00000581580.1_Missense_Mutation_p.P901L|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1266					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GGAATCCTCCCGTCTCCCACC	0.547																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(3796-3798)cCg>cTg		deleted in colorectal carcinoma							125.0	111.0	116.0					18																	51013227		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013227C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3797C>T	18.37:g.51013227C>T	ENSP00000389140:p.Pro1266Leu					DCC_ENST00000581580.1_Missense_Mutation_p.P901L|RP11-671P2.1_ENST00000582064.1_RNA	p.P1266L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4413	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1266						Missense_Mutation	SNP	ENST00000442544.2	37	c.3797C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047910	0.55110	.	.	ENSG00000187323	ENST00000442544	T	0.44881	0.91	5.48	5.48	0.80851	Neogenin, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.49457	0.1558	L	0.41236	1.265	0.80722	D	1	D	0.62365	0.991	P	0.55667	0.781	T	0.27191	-1.0081	10	0.24483	T	0.36	-5.5489	18.1263	0.89586	0.0:1.0:0.0:0.0	.	1266	P43146	DCC_HUMAN	L	1266	ENSP00000389140:P1266L	ENSP00000389140:P1266L	P	+	2	0	DCC	49267225	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	6.474000	0.73578	2.569000	0.86673	0.563000	0.77884	CCG		0.547	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		32	108	0	0	0	1	0	32	108				
PPFIA2	8499	broad.mit.edu	37	12	81675076	81675076	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:81675076C>A	ENST00000549396.1	-	27	3332	c.3172G>T	c.(3172-3174)Gat>Tat	p.D1058Y	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D905Y|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D1037Y|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D594Y|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D1043Y|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D1052Y|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D957Y|PPFIA2_ENST00000541017.1_Missense_Mutation_p.D244Y|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D1043Y|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D953Y|PPFIA2_ENST00000550584.2_Missense_Mutation_p.D1058Y	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1058	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ACACGGAGATCTTTTTTTGTT	0.348																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(3172-3174)Gat>Tat		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							84.0	81.0	82.0					12																	81675076		1815	4073	5888	SO:0001583	missense	8499							g.chr12:81675076C>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3172G>T	12.37:g.81675076C>A	ENSP00000450337:p.Asp1058Tyr					PPFIA2_ENST00000541570.2_Missense_Mutation_p.D594Y|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D1052Y|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D957Y|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D953Y|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D1037Y|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D1043Y|PPFIA2_ENST00000541017.1_Missense_Mutation_p.D244Y|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D1043Y|PPFIA2_ENST00000550359.2_Missense_Mutation_p.D905Y|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D1058Y	p.D1058Y	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			26	3467	-			957					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.3172G>T	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.630348|4.630348	0.87660|0.87660	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|T	0.60797|0.49432	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16|0.78	5.42|5.42	5.42|5.42	0.78866|0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75961|0.75961	0.3921|0.3921	M|M	0.90198|0.90198	3.095|3.095	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.80881|0.80881	-0.1184|-0.1184	10|7	0.87932|0.87932	D|D	0|0	-25.6177|-25.6177	19.5648|19.5648	0.95389|0.95389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1058|.	O75334|.	LIPA2_HUMAN|.	Y|N	1058;1043;594;244;957;1069;1043;1052;953;1037|160	ENSP00000450337:D1058Y;ENSP00000450298:D1043Y;ENSP00000438337:D594Y;ENSP00000445532:D244Y;ENSP00000385093:D957Y;ENSP00000327416:D1043Y;ENSP00000449338:D1052Y;ENSP00000388373:D953Y;ENSP00000447868:D1037Y|ENSP00000447189:K160N	ENSP00000327416:D1043Y|ENSP00000447189:K160N	D|K	-|-	1|3	0|2	PPFIA2|PPFIA2	80199207|80199207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.722000|7.722000	0.84778|0.84778	2.704000|2.704000	0.92352|0.92352	0.484000|0.484000	0.47621|0.47621	GAT|AAG		0.348	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			4	32	1	0	0.00024832	1	0.00025525	4	32				
MYO1E	4643	broad.mit.edu	37	15	59494582	59494582	+	Silent	SNP	C	C	T	rs142116200		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr15:59494582C>T	ENST00000288235.4	-	16	2040	c.1641G>A	c.(1639-1641)ccG>ccA	p.P547P		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	547	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GCAGATTTTCCGGAAATAAAG	0.408													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19379	0.0		0.0	False		,,,				2504	0.0					ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1639-1641)ccG>ccA		myosin IE		C		7,4375	12.9+/-30.5	0,7,2184	71.0	76.0	74.0		1641	-0.4	1.0	15	dbSNP_134	74	0,8580		0,0,4290	no	coding-synonymous	MYO1E	NM_004998.2		0,7,6474	TT,TC,CC		0.0,0.1597,0.054		547/1109	59494582	7,12955	2191	4290	6481	SO:0001819	synonymous_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59494582C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1641G>A	15.37:g.59494582C>T							p.P547P	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	16	2040	-			547			Myosin head-like.		Q14778	Silent	SNP	ENST00000288235.4	37	c.1641G>A	CCDS32254.1																																																																																				0.408	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		4	98	0	0	0	1	0	4	98				
KCNK4	50801	broad.mit.edu	37	11	64067045	64067045	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:64067045C>T	ENST00000539216.1	+	6	1389	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000422670.2_Silent_p.N343N|KCNK4_ENST00000394525.2_Silent_p.N343N|TEX40_ENST00000539943.1_5'Flank|KCNK4_ENST00000538767.1_Missense_Mutation_p.P228S|TEX40_ENST00000328404.6_5'Flank			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	343					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CCAGCGAGAACCTGGCCTTCA	0.731																																						ENST00000538767.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(682-684)Cct>Tct		potassium channel, subfamily K, member 4							27.0	33.0	31.0					11																	64067045		2188	4274	6462	SO:0001819	synonymous_variant	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64067045C>T	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.1029C>T	11.37:g.64067045C>T						KCNK4_ENST00000539216.1_Silent_p.N343N|KCNK4_ENST00000422670.2_Silent_p.N343N|KCNK4_ENST00000394525.2_Silent_p.N343N|RP11-783K16.10_ENST00000539086.1_RNA	p.P228S			Q9NYG8	KCNK4_HUMAN			6	934	+			323					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.682C>T	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709915	0.48517	.	.	ENSG00000182450	ENST00000538767	.	.	.	3.95	-1.84	0.07809	.	.	.	.	.	T	0.45296	0.1335	.	.	.	0.80722	D	1	B	0.20052	0.041	B	0.16722	0.016	T	0.24799	-1.0150	7	0.87932	D	0	.	9.1743	0.37102	0.0:0.3526:0.0:0.6474	.	228	F5GYE0	.	S	228	.	ENSP00000446454:P228S	P	+	1	0	KCNK4	63823621	0.971000	0.33674	0.976000	0.42696	0.993000	0.82548	0.585000	0.23879	-0.487000	0.06735	0.561000	0.74099	CCT		0.731	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		26	93	0	0	0	1	0	26	93				
MYH3	4621	broad.mit.edu	37	17	10533201	10533201	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:10533201C>T	ENST00000583535.1	-	39	5703	c.5616G>A	c.(5614-5616)ctG>ctA	p.L1872L	MYH3_ENST00000226209.7_Silent_p.L1872L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1872					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTTTCACTTGCAGTTTATCCA	0.517																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(5614-5616)ctG>ctA		myosin, heavy chain 3, skeletal muscle, embryonic							139.0	127.0	131.0					17																	10533201		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10533201C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5616G>A	17.37:g.10533201C>T						MYH3_ENST00000226209.7_Silent_p.L1872L	p.L1872L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			39	5703	-			1872					Q15492	Silent	SNP	ENST00000583535.1	37	c.5616G>A	CCDS11157.1																																																																																				0.517	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		70	91	0	0	0	1	0	70	91				
CACNA1S	779	broad.mit.edu	37	1	201061191	201061191	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:201061191G>A	ENST00000362061.3	-	4	676	c.450C>T	c.(448-450)gcC>gcT	p.A150A	CACNA1S_ENST00000367338.3_Silent_p.A150A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	150					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCTCATTGGGGCTGTGTGGC	0.597																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(448-450)gcC>gcT		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						97.0	93.0	94.0					1																	201061191		2203	4300	6503	SO:0001819	synonymous_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201061191G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.450C>T	1.37:g.201061191G>A						CACNA1S_ENST00000367338.3_Silent_p.A150A	p.A150A	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			4	676	-			150					A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	ENST00000362061.3	37	c.450C>T	CCDS1407.1																																																																																				0.597	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		37	82	0	0	0	1	0	37	82				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			3	39	0	0	0	1	0	3	39				
BVES	11149	broad.mit.edu	37	6	105577362	105577362	+	Silent	SNP	G	G	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:105577362G>T	ENST00000314641.5	-	3	459	c.243C>A	c.(241-243)atC>atA	p.I81I	BVES_ENST00000336775.5_Silent_p.I81I|BVES_ENST00000446408.2_Silent_p.I81I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	81					epithelial cell-cell adhesion (GO:0090136)|hematopoietic progenitor cell differentiation (GO:0002244)|muscle organ development (GO:0007517)|positive regulation of locomotion (GO:0040017)|positive regulation of receptor recycling (GO:0001921)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|regulation of Rac GTPase activity (GO:0032314)|sinoatrial node cell development (GO:0060931)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cAMP binding (GO:0030552)|structural molecule activity (GO:0005198)			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGCCCAGACGATATAAAGGG	0.383																																						ENST00000314641.5																			0				NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21						c.(241-243)atC>atA		blood vessel epicardial substance							119.0	118.0	119.0					6																	105577362		2203	4300	6503	SO:0001819	synonymous_variant	11149				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	g.chr6:105577362G>T	AF124512	CCDS5051.1	6q21	2008-11-25			ENSG00000112276	ENSG00000112276			1152	protein-coding gene	gene with protein product	"""popeye domain containing 1"""	604577				10441744, 10882522	Standard	NM_147147		Approved	HBVES, POP1, POPDC1	uc003pqx.3	Q8NE79	OTTHUMG00000015291	ENST00000314641.5:c.243C>A	6.37:g.105577362G>T						BVES_ENST00000336775.5_Silent_p.I81I|BVES_ENST00000446408.2_Silent_p.I81I	p.I81I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN			3	459	-		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)	81					A8K1R4|E1P5D8|Q5T550|Q5T551|Q8IWC6|Q9HBV0|Q9UNG6	Silent	SNP	ENST00000314641.5	37	c.243C>A	CCDS5051.1																																																																																				0.383	BVES-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406075.1	NM_147147		22	94	1	0	9.57634e-11	1	1.0635e-10	22	94				
NDUFA7	4701	broad.mit.edu	37	19	8385742	8385742	+	Splice_Site	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:8385742G>A	ENST00000301457.2	-	2	137	c.100C>T	c.(100-102)Cga>Tga	p.R34*	NDUFA7_ENST00000598884.1_Splice_Site_p.R34*|RPS28_ENST00000600659.2_5'Flank	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	34					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						CCTGCTCACCGCTTGGAGATC	0.602																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.e2+1		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						94.0	107.0	103.0					19																	8385742		2018	4194	6212	SO:0001630	splice_region_variant	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8385742G>A	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.101+1C>T	19.37:g.8385742G>A						NDUFA7_ENST00000598884.1_Splice_Site_p.R34_splice	p.R34_splice	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			2	137	-			34						Splice_Site	SNP	ENST00000301457.2	37	c.101_splice	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	G	36	5.770199	0.96914	.	.	ENSG00000167774	ENST00000301457	.	.	.	5.06	2.82	0.32997	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.1547	6.5487	0.22420	0.0901:0.0:0.6516:0.2583	.	.	.	.	X	34	.	ENSP00000301457:R34X	R	-	1	2	NDUFA7	8291742	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.496000	0.53288	1.365000	0.46057	0.655000	0.94253	CGA		0.602	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001	Nonsense_Mutation	6	267	0	0	0	1	0	6	267				
KRT82	3888	broad.mit.edu	37	12	52788815	52788815	+	Missense_Mutation	SNP	G	G	A	rs139996519		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:52788815G>A	ENST00000257974.2	-	9	1563	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	496	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.R496W(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTGGATTTCCGCCCGCTCCCA	0.642																																						ENST00000257974.2																			1	Substitution - Missense(1)	p.R496W(1)	kidney(1)	endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1486-1488)Cgg>Tgg		keratin 82		G	TRP/ARG	0,4406		0,0,2203	49.0	49.0	49.0		1486	-1.4	0.0	12	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT82	NM_033033.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	496/514	52788815	1,13005	2203	4300	6503	SO:0001583	missense	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52788815G>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1486C>T	12.37:g.52788815G>A	ENSP00000257974:p.Arg496Trp					RP3-416H24.4_ENST00000547174.1_RNA	p.R496W	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	9	1563	-			496			Tail.			Missense_Mutation	SNP	ENST00000257974.2	37	c.1486C>T	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070250	0.55539	0.0	1.16E-4	ENSG00000161850	ENST00000257974	D	0.82984	-1.67	4.59	-1.42	0.08913	.	0.753921	0.10873	N	0.624709	T	0.60805	0.2297	N	0.08118	0	0.09310	N	1	D	0.63880	0.993	B	0.41135	0.348	T	0.57505	-0.7800	10	0.39692	T	0.17	.	4.6736	0.12701	0.1724:0.0:0.3784:0.4492	.	496	Q9NSB4	KRT82_HUMAN	W	496	ENSP00000257974:R496W	ENSP00000257974:R496W	R	-	1	2	KRT82	51075082	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.809000	0.04510	-0.155000	0.11098	0.561000	0.74099	CGG		0.642	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		26	69	0	0	0	1	0	26	69				
ZIM2	23619	broad.mit.edu	37	19	57293445	57293445	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:57293445C>T	ENST00000391708.3	-	10	1064	c.522G>A	c.(520-522)gaG>gaA	p.E174E	AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000221722.5_Silent_p.E174E|ZIM2_ENST00000599935.1_Silent_p.E174E|ZIM2_ENST00000601070.1_Silent_p.E174E|ZIM2_ENST00000593711.1_Silent_p.E174E|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	174					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGGTCACCAACTCCTCAAACA	0.502																																						ENST00000391708.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(520-522)gaG>gaA		zinc finger, imprinted 2							171.0	147.0	155.0					19																	57293445		2203	4300	6503	SO:0001819	synonymous_variant	23619							g.chr19:57293445C>T	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.522G>A	19.37:g.57293445C>T						ZIM2_ENST00000593711.1_Silent_p.E174E|ZIM2_ENST00000599935.1_Silent_p.E174E|ZIM2_ENST00000221722.5_Silent_p.E174E|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Silent_p.E174E	p.E174E	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1				GBM - Glioblastoma multiforme(193;0.0314)	10	1064	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)						Q2M3K1	Silent	SNP	ENST00000391708.3	37	c.522G>A	CCDS33123.1																																																																																				0.502	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2			31	128	0	0	0	1	0	31	128				
OR10AG1	282770	broad.mit.edu	37	11	55735497	55735497	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:55735497A>C	ENST00000312345.2	-	1	493	c.443T>G	c.(442-444)aTt>aGt	p.I148S		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TGTTTCCCCAATTACTACAGG	0.413																																						ENST00000312345.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(442-444)aTt>aGt		olfactory receptor, family 10, subfamily AG, member 1							80.0	78.0	79.0					11																	55735497		2201	4296	6497	SO:0001583	missense	282770				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55735497A>C	AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.443T>G	11.37:g.55735497A>C	ENSP00000311477:p.Ile148Ser						p.I148S	NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN			1	493	-	Esophageal squamous(21;0.0137)		148					B2RNH4|Q6IEU3	Missense_Mutation	SNP	ENST00000312345.2	37	c.443T>G	CCDS31514.1	.	.	.	.	.	.	.	.	.	.	A	7.910	0.736304	0.15574	.	.	ENSG00000174970	ENST00000312345	T	0.00169	8.63	4.95	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.217602	0.31589	N	0.007381	T	0.00144	0.0004	N	0.25957	0.775	0.09310	N	1	B	0.31153	0.31	B	0.34452	0.183	T	0.24261	-1.0165	10	0.49607	T	0.09	.	6.4134	0.21704	0.8119:0.0:0.1881:0.0	.	148	Q8NH19	O10AG_HUMAN	S	148	ENSP00000311477:I148S	ENSP00000311477:I148S	I	-	2	0	OR10AG1	55492073	0.000000	0.05858	0.008000	0.14137	0.488000	0.33401	0.437000	0.21543	0.953000	0.37825	0.391000	0.25812	ATT		0.413	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391531.1	NM_001005491		16	70	0	0	0	1	0	16	70				
AMPH	273	broad.mit.edu	37	7	38424475	38424475	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:38424475C>G	ENST00000356264.2	-	21	2247	c.2032G>C	c.(2032-2034)Gac>Cac	p.D678H	AMPH_ENST00000428293.2_Missense_Mutation_p.D636H|AMPH_ENST00000325590.5_Missense_Mutation_p.D636H	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	678	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.D678H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGGCAAGGTCTCTGTACTGA	0.478																																						ENST00000356264.2																			1	Substitution - Missense(1)	p.D678H(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(2032-2034)Gac>Cac		amphiphysin							129.0	121.0	123.0					7																	38424475		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38424475C>G		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.2032G>C	7.37:g.38424475C>G	ENSP00000348602:p.Asp678His					AMPH_ENST00000325590.5_Missense_Mutation_p.D636H|AMPH_ENST00000428293.2_Missense_Mutation_p.D636H	p.D678H	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			21	2247	-			678			SH3.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.2032G>C	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.133960|4.133960	0.77662|0.77662	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	T;T;T|T	0.64803|0.35789	-0.1;-0.03;-0.12|1.29	5.56|5.56	5.56|5.56	0.83823|0.83823	Src homology-3 domain (3);Variant SH3 (1);|.	0.102292|.	0.64402|.	D|.	0.000003|.	T|T	0.58090|0.58090	0.2098|0.2098	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.87578|.	0.991;0.997;0.998|.	T|T	0.58498|0.58498	-0.7626|-0.7626	10|7	0.72032|0.72032	D|D	0.01|0.01	-33.0524|-33.0524	19.9249|19.9249	0.97099|0.97099	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	636;678;566|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	H|T	636;678;636;580|560	ENSP00000317441:D636H;ENSP00000348602:D678H;ENSP00000390734:D636H|ENSP00000415085:R560T	ENSP00000317441:D636H|ENSP00000415085:R560T	D|R	-|-	1|2	0|0	AMPH|AMPH	38391000|38391000	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.761000|0.761000	0.43186|0.43186	6.834000|6.834000	0.75339|0.75339	2.793000|2.793000	0.96121|0.96121	0.650000|0.650000	0.86243|0.86243	GAC|AGA		0.478	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		22	106	0	0	0	1	0	22	106				
FGD2	221472	broad.mit.edu	37	6	36978761	36978761	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:36978761A>C	ENST00000274963.8	+	3	484	c.313A>C	c.(313-315)Aag>Cag	p.K105Q		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	105	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCCAGAGAAGAAGATCGTCCA	0.602																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(313-315)Aag>Cag		FYVE, RhoGEF and PH domain containing 2							71.0	73.0	73.0					6																	36978761		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36978761A>C	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.313A>C	6.37:g.36978761A>C	ENSP00000274963:p.Lys105Gln						p.K105Q	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			3	484	+			105			DH.		Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.313A>C	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256086	0.59321	.	.	ENSG00000146192	ENST00000274963	T	0.30182	1.54	5.54	4.35	0.52113	Dbl homology (DH) domain (3);	0.256570	0.27491	N	0.019131	T	0.20088	0.0483	L	0.60904	1.88	0.25174	N	0.990257	P;P	0.43477	0.763;0.808	P;B	0.44990	0.466;0.154	T	0.03651	-1.1016	10	0.52906	T	0.07	0.2213	11.7326	0.51746	0.8519:0.1481:0.0:0.0	.	105;105	B4DV77;Q7Z6J4	.;FGD2_HUMAN	Q	105	ENSP00000274963:K105Q	ENSP00000274963:K105Q	K	+	1	0	FGD2	37086739	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	6.690000	0.74567	0.900000	0.36469	0.533000	0.62120	AAG		0.602	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		16	72	0	0	0	1	0	16	72				
ZNF574	64763	broad.mit.edu	37	19	42582950	42582950	+	Silent	SNP	G	G	A	rs377020040		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:42582950G>A	ENST00000600245.1	+	2	847	c.192G>A	c.(190-192)acG>acA	p.T64T	ZNF574_ENST00000222339.7_Silent_p.T154T|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.T64T			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	64					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CTTCAGGCACGGGCCTCTATC	0.607																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(190-192)acG>acA		zinc finger protein 574		G		0,4406		0,0,2203	69.0	62.0	65.0		192	-8.9	0.3	19		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF574	NM_022752.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		64/897	42582950	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42582950G>A	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.192G>A	19.37:g.42582950G>A						CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Silent_p.T154T|ZNF574_ENST00000359044.4_Silent_p.T64T	p.T64T			Q6ZN55	ZN574_HUMAN			2	847	+		Prostate(69;0.059)	64					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.192G>A	CCDS12596.1																																																																																				0.607	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		7	99	0	0	0	1	0	7	99				
LRP8	7804	broad.mit.edu	37	1	53722976	53722976	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:53722976G>A	ENST00000306052.6	-	15	2471	c.2370C>T	c.(2368-2370)gtC>gtT	p.V790V	LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.V620V|LRP8_ENST00000371454.2_Silent_p.V790V|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000465675.1_Silent_p.V343V	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	790	Clustered O-linked oligosaccharides.				ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GAGCCCTGGGGACACTAACTG	0.572																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(2368-2370)gtC>gtT		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							247.0	207.0	220.0					1																	53722976		2203	4300	6503	SO:0001819	synonymous_variant	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53722976G>A	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2370C>T	1.37:g.53722976G>A						LRP8_ENST00000465675.1_Silent_p.V343V|LRP8_ENST00000371454.2_Silent_p.V790V|LRP8_ENST00000354412.3_Intron|LRP8_ENST00000347547.2_Silent_p.V620V|LRP8_ENST00000460214.1_5'UTR	p.V790V	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN			15	2471	-			790			Clustered O-linked oligosaccharides.		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Silent	SNP	ENST00000306052.6	37	c.2370C>T	CCDS578.1																																																																																				0.572	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		4	63	0	0	0	1	0	4	63				
TPRKB	51002	broad.mit.edu	37	2	73961564	73961564	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:73961564G>A	ENST00000272424.5	-	2	239	c.133C>T	c.(133-135)Cct>Tct	p.P45S	TPRKB_ENST00000318190.7_Missense_Mutation_p.P45S|TPRKB_ENST00000409716.2_Missense_Mutation_p.P45S	NM_016058.2	NP_057142.1	Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	45					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			lung(2)|ovary(1)|skin(1)	4						ACCACTGTAGGATTTATCAGT	0.468																																						ENST00000318190.7																			0				lung(2)|ovary(1)|skin(1)	4						c.(133-135)Cct>Tct		TP53RK binding protein							111.0	106.0	108.0					2																	73961564		2203	4300	6503	SO:0001583	missense	51002				protein catabolic process	cytosol|nucleus	protein kinase binding	g.chr2:73961564G>A	AY157986	CCDS1927.1	2p24.3-p24.1	2008-02-05			ENSG00000144034	ENSG00000144034			24259	protein-coding gene	gene with protein product		608680				10810093, 12659830	Standard	NM_016058		Approved	CGI-121	uc002sjn.2	Q9Y3C4	OTTHUMG00000129815	ENST00000272424.5:c.133C>T	2.37:g.73961564G>A	ENSP00000272424:p.Pro45Ser					TPRKB_ENST00000272424.5_Missense_Mutation_p.P45S|TPRKB_ENST00000409716.2_Missense_Mutation_p.P45S	p.P45S			Q9Y3C4	TPRKB_HUMAN			2	253	-			45					D6W5H6|Q8IWR6|Q8IWR7|Q9H3K4	Missense_Mutation	SNP	ENST00000272424.5	37	c.133C>T	CCDS1927.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702939	0.30232	.	.	ENSG00000144034	ENST00000272424;ENST00000409716;ENST00000318190	T;T	0.28666	1.6;1.6	5.29	4.37	0.52481	.	0.112447	0.64402	D	0.000009	T	0.40932	0.1137	M	0.84433	2.695	0.54753	D	0.999983	B;B	0.32467	0.087;0.372	B;B	0.36244	0.22;0.133	T	0.34428	-0.9829	10	0.27785	T	0.31	.	14.492	0.67657	0.0:0.1481:0.8519:0.0	.	45;45	Q9Y3C4;Q9Y3C4-3	TPRKB_HUMAN;.	S	45	ENSP00000386936:P45S;ENSP00000325398:P45S	ENSP00000272424:P45S	P	-	1	0	TPRKB	73815072	1.000000	0.71417	0.999000	0.59377	0.085000	0.17905	5.930000	0.70104	2.647000	0.89833	0.655000	0.94253	CCT		0.468	TPRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252046.2	NM_016058		32	57	0	0	0	1	0	32	57				
TTN	7273	broad.mit.edu	37	2	179642012	179642012	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:179642012C>T	ENST00000591111.1	-	27	4902	c.4678G>A	c.(4678-4680)Gaa>Aaa	p.E1560K	TTN_ENST00000589042.1_Missense_Mutation_p.E1560K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E1560K|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E1514K|TTN_ENST00000460472.2_Missense_Mutation_p.E1514K|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E1514K|TTN_ENST00000360870.5_Missense_Mutation_p.E1560K			Q8WZ42	TITIN_HUMAN	titin	12417	Ig-like 7.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGTTTTTCTACAAACATC	0.393																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(4678-4680)Gaa>Aaa		titin							108.0	102.0	104.0					2																	179642012		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179642012C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4678G>A	2.37:g.179642012C>T	ENSP00000465570:p.Glu1560Lys					TTN_ENST00000460472.2_Missense_Mutation_p.E1514K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E1514K|TTN_ENST00000342992.6_Missense_Mutation_p.E1560K|TTN_ENST00000591111.1_Missense_Mutation_p.E1560K|TTN_ENST00000360870.5_Missense_Mutation_p.E1560K|TTN_ENST00000342175.6_Missense_Mutation_p.E1514K	p.E1560K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		27	4902	-			1295			Ig-like 7.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.4678G>A		.	.	.	.	.	.	.	.	.	.	C	14.96	2.691766	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.9	5.9	0.94986	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77018	0.4069	L	0.51853	1.615	0.45015	D	0.998031	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.996;0.996;0.998	T	0.77169	-0.2686	9	0.87932	D	0	.	20.273	0.98481	0.0:1.0:0.0:0.0	.	1514;1514;1514;1560;1560	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1560;1514;1514;1514;1514;1560	ENSP00000343764:E1560K;ENSP00000434586:E1514K;ENSP00000340554:E1514K;ENSP00000352154:E1514K;ENSP00000354117:E1560K	ENSP00000340554:E1514K	E	-	1	0	TTN	179350257	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.757000	0.85209	2.804000	0.96469	0.650000	0.86243	GAA		0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	43	0	0	0	1	0	11	43				
SOCS1	8651	broad.mit.edu	37	16	11349065	11349065	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:11349065C>T	ENST00000332029.2	-	2	421	c.271G>A	c.(271-273)Gag>Aag	p.E91K	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	91	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.Y64fs*1(1)|p.0?(1)|p.D63_Q108del(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CGCAGCCGCTCGTGCGCCCCG	0.701			"""F, O"""		"""Hodgkin Lymphoma, PMBL"""																																Colon(177;456 3548 27231)	ENST00000332029.2				Rec	yes		16	16p13.13	8651	"""F, O"""	suppressor of cytokine signaling 1			L			"""Hodgkin Lymphoma, PMBL"""		3	Whole gene deletion(1)|Deletion - In frame(1)|Deletion - Frameshift(1)	p.Y64fs*1(1)|p.0?(1)|p.D63_Q108del(1)	haematopoietic_and_lymphoid_tissue(3)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						c.(271-273)Gag>Aag		suppressor of cytokine signaling 1							5.0	6.0	5.0					16																	11349065		2025	4000	6025	SO:0001583	missense	8651				interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	g.chr16:11349065C>T	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.271G>A	16.37:g.11349065C>T	ENSP00000329418:p.Glu91Lys					RMI2_ENST00000572173.1_Intron	p.E91K	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN			2	421	-			91			SH2.		O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	c.271G>A	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	C	16.24	3.067243	0.55539	.	.	ENSG00000185338	ENST00000332029	D	0.88124	-2.34	4.19	4.19	0.49359	SH2 motif (4);	0.352416	0.30356	N	0.009815	T	0.78929	0.4361	N	0.25647	0.755	0.40225	D	0.977785	B	0.27192	0.171	B	0.30179	0.112	T	0.74070	-0.3783	10	0.08837	T	0.75	0.0061	15.6933	0.77473	0.0:1.0:0.0:0.0	.	91	O15524	SOCS1_HUMAN	K	91	ENSP00000329418:E91K	ENSP00000329418:E91K	E	-	1	0	SOCS1	11256566	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	3.090000	0.50191	2.176000	0.68965	0.561000	0.74099	GAG		0.701	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1			3	14	0	0	0	1	0	3	14				
DYTN	391475	broad.mit.edu	37	2	207527900	207527900	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:207527900C>G	ENST00000452335.2	-	11	1476	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	454						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TCTGGTGATTCTGGATTTCGC	0.483																																						ENST00000452335.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36						c.(1360-1362)Gaa>Caa		dystrotelin							178.0	168.0	172.0					2																	207527900		2027	4195	6222	SO:0001583	missense	391475					plasma membrane	zinc ion binding	g.chr2:207527900C>G	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1360G>C	2.37:g.207527900C>G	ENSP00000396593:p.Glu454Gln						p.E454Q	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	11	1476	-			454						Missense_Mutation	SNP	ENST00000452335.2	37	c.1360G>C	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	9.377	1.071887	0.20147	.	.	ENSG00000232125	ENST00000452335	T	0.16324	2.35	5.12	-0.307	0.12777	.	.	.	.	.	T	0.09202	0.0227	N	0.12182	0.205	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.33879	-0.9851	9	0.35671	T	0.21	-1.0712	9.732	0.40366	0.0:0.3218:0.5916:0.0866	.	454	A2CJ06	DYTN_HUMAN	Q	454	ENSP00000396593:E454Q	ENSP00000396593:E454Q	E	-	1	0	DYTN	207236145	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.386000	0.07370	0.096000	0.17463	-0.156000	0.13503	GAA		0.483	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			22	39	0	0	0	1	0	22	39				
TGFBR2	7048	broad.mit.edu	37	3	30691832	30691832	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:30691832A>G	ENST00000295754.5	+	3	716	c.334A>G	c.(334-336)Att>Gtt	p.I112V	TGFBR2_ENST00000359013.4_Missense_Mutation_p.I137V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	112					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCATGACTTTATTCTGGAAGA	0.433																																						ENST00000295754.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						c.(334-336)Att>Gtt		transforming growth factor, beta receptor II (70/80kDa)							108.0	107.0	107.0					3																	30691832		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30691832A>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.334A>G	3.37:g.30691832A>G	ENSP00000295754:p.Ile112Val					TGFBR2_ENST00000359013.4_Missense_Mutation_p.I137V	p.I112V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN			3	716	+			112					B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.334A>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	4.499	0.092626	0.08632	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.81659	-1.52;-1.52	5.97	-1.18	0.09617	Transforming growth factor beta receptor 2 ectodomain (1);	1.577930	0.03126	N	0.164480	T	0.50786	0.1636	N	0.01048	-1.04	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43261	-0.9402	10	0.25751	T	0.34	.	2.6767	0.05083	0.3265:0.1981:0.3758:0.0996	.	112;137	P37173;D2JYI1	TGFR2_HUMAN;.	V	112;137	ENSP00000295754:I112V;ENSP00000351905:I137V	ENSP00000295754:I112V	I	+	1	0	TGFBR2	30666836	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-1.130000	0.03241	-0.192000	0.10432	0.533000	0.62120	ATT		0.433	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			40	70	0	0	0	1	0	40	70				
GDPD2	54857	broad.mit.edu	37	X	69649407	69649407	+	Missense_Mutation	SNP	C	C	T	rs200782055		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:69649407C>T	ENST00000374382.3	+	11	1252	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	GDPD2_ENST00000453994.2_Missense_Mutation_p.T334M|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.T255M|GDPD2_ENST00000538649.1_Missense_Mutation_p.T255M	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	334	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GAGAGTCAGACGGTACCAGCA	0.517													C|||	1	0.000264901	0.0	0.0	3775	,	,		12852	0.0		0.001	False		,,,				2504	0.0					ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(1000-1002)aCg>aTg		glycerophosphodiester phosphodiesterase domain containing 2							97.0	75.0	82.0					X																	69649407		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69649407C>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1001C>T	X.37:g.69649407C>T	ENSP00000363503:p.Thr334Met					GDPD2_ENST00000538649.1_Missense_Mutation_p.T255M|GDPD2_ENST00000536730.1_Missense_Mutation_p.T255M|GDPD2_ENST00000374382.3_Missense_Mutation_p.T334M|GDPD2_ENST00000472623.1_3'UTR	p.T334M	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			11	1362	+	Renal(35;0.156)		334			GDPD.		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.1001C>T	CCDS14402.1	1	6.027727546714888E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	5.136	0.210781	0.09757	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	4.27	0.38	0.16222	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.217487	0.37483	N	0.002067	T	0.17408	0.0418	M	0.77486	2.375	0.09310	N	0.99999	B;D;B	0.55385	0.151;0.971;0.086	B;P;B	0.47206	0.074;0.541;0.036	T	0.13629	-1.0502	9	.	.	.	0.8017	3.3303	0.07082	0.2543:0.2603:0.3951:0.0903	.	334;120;334	B4DVC9;B3KUI6;Q9HCC8	.;.;GDPD2_HUMAN	M	334;255;255;334	ENSP00000414019:T334M;ENSP00000445982:T255M;ENSP00000444601:T255M;ENSP00000363503:T334M	.	T	+	2	0	GDPD2	69566132	0.000000	0.05858	0.003000	0.11579	0.432000	0.31715	-0.391000	0.07323	-0.254000	0.09500	-0.857000	0.03018	ACG		0.517	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		3	41	0	0	0	1	0	3	41				
PRMT3	10196	broad.mit.edu	37	11	20448356	20448356	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:20448356T>C	ENST00000331079.6	+	10	1155	c.938T>C	c.(937-939)aTt>aCt	p.I313T	PRMT3_ENST00000437750.2_Missense_Mutation_p.I251T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	313	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AAAGGAAAGATTGAAGAAGTT	0.274																																						ENST00000331079.6																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						c.(937-939)aTt>aCt		protein arginine methyltransferase 3							51.0	55.0	54.0					11																	20448356		2182	4275	6457	SO:0001583	missense	10196						zinc ion binding	g.chr11:20448356T>C	AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.938T>C	11.37:g.20448356T>C	ENSP00000331879:p.Ile313Thr					PRMT3_ENST00000437750.2_Missense_Mutation_p.I251T	p.I313T	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN			10	1155	+			313					B4DUC7	Missense_Mutation	SNP	ENST00000331079.6	37	c.938T>C	CCDS7853.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.641124	0.67244	.	.	ENSG00000185238	ENST00000331079;ENST00000541255;ENST00000437750	T;T	0.24723	1.84;1.84	5.46	5.46	0.80206	.	0.142736	0.64402	D	0.000010	T	0.42966	0.1226	L	0.49256	1.55	0.58432	D	0.999995	P;D	0.58620	0.883;0.983	P;D	0.65010	0.736;0.931	T	0.32693	-0.9897	10	0.72032	D	0.01	-21.7155	13.0519	0.58960	0.0:0.0:0.0:1.0	.	251;313	O60678-2;O60678	.;ANM3_HUMAN	T	313;313;251	ENSP00000331879:I313T;ENSP00000397766:I251T	ENSP00000331879:I313T	I	+	2	0	PRMT3	20404932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.235000	0.72332	2.074000	0.62210	0.528000	0.53228	ATT		0.274	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387489.1	NM_005788		6	15	0	0	0	1	0	6	15				
CES4A	283848	broad.mit.edu	37	16	67043004	67043004	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:67043004C>G	ENST00000326686.5	+	14	1645	c.1645C>G	c.(1645-1647)Ctg>Gtg	p.L549V	CES4A_ENST00000541479.1_Missense_Mutation_p.L502V|CES4A_ENST00000338718.4_3'UTR|CES4A_ENST00000397205.2_3'UTR|CES4A_ENST00000540947.2_3'UTR|CES4A_ENST00000540579.1_Missense_Mutation_p.L451V|CES4A_ENST00000535696.1_3'UTR|CES4A_ENST00000398354.1_Missense_Mutation_p.L479V			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	549						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TTGGATGAGTCTGTACCAGTC	0.522																																						ENST00000326686.5																			0				large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						c.(1645-1647)Ctg>Gtg		carboxylesterase 4A							145.0	143.0	143.0					16																	67043004		1971	4147	6118	SO:0001583	missense	283848					extracellular region	carboxylesterase activity	g.chr16:67043004C>G	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1645C>G	16.37:g.67043004C>G	ENSP00000314145:p.Leu549Val					CES4A_ENST00000398354.1_Missense_Mutation_p.L479V|CES4A_ENST00000535696.1_3'UTR|CES4A_ENST00000540947.2_3'UTR|CES4A_ENST00000540579.1_Missense_Mutation_p.L451V|CES4A_ENST00000541479.1_Missense_Mutation_p.L502V|CES4A_ENST00000338718.4_3'UTR|CES4A_ENST00000397205.2_3'UTR	p.L549V			Q5XG92	EST4A_HUMAN			14	1645	+			549					A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	37	c.1645C>G		.	.	.	.	.	.	.	.	.	.	C	10.02	1.236480	0.22711	.	.	ENSG00000172824	ENST00000541479;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579	T;T;T;T;T	0.59772	0.24;0.24;3.07;0.24;3.07	4.88	1.05	0.20165	.	.	.	.	.	T	0.42698	0.1214	L	0.35644	1.08	0.09310	N	1	P	0.42941	0.794	B	0.35770	0.21	T	0.19778	-1.0295	9	0.44086	T	0.13	.	10.2851	0.43562	0.6059:0.3941:0.0:0.0	.	502	F5H5S4	.	V	502;479;549;442;451	ENSP00000443175:L502V;ENSP00000381397:L479V;ENSP00000314145:L549V;ENSP00000441103:L442V;ENSP00000441907:L451V	ENSP00000314145:L549V	L	+	1	2	CES4A	65600505	0.035000	0.19736	0.003000	0.11579	0.025000	0.11179	0.759000	0.26461	0.509000	0.28195	0.491000	0.48974	CTG		0.522	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815		20	191	0	0	0	1	0	20	191				
SMPD4P1	645280	broad.mit.edu	37	22	20970528	20970528	+	RNA	SNP	G	G	A	rs531187058	byFrequency	TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:20970528G>A	ENST00000443839.1	-	0	2096									sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) pseudogene 1																		CTGGGACTCTGACCCATATAG	0.488													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18605	0.0		0.0	False		,,,				2504	0.0					ENST00000443839.1																			0																																																			645280							g.chr22:20970528G>A			22q11.21	2011-03-22			ENSG00000223553	ENSG00000223553			39673	pseudogene	pseudogene							Standard	NG_028286		Approved				OTTHUMG00000030245		22.37:g.20970528G>A														0	2096	-									RNA	SNP	ENST00000443839.1	37																																																																																						0.488	SMPD4P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319965.1			9	21	0	0	0	1	0	9	21				
GLP2R	9340	broad.mit.edu	37	17	9792806	9792806	+	Silent	SNP	G	G	A	rs184873596		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:9792806G>A	ENST00000262441.5	+	13	1959	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	GLP2R_ENST00000574745.1_Silent_p.S302S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	482					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	AGAAGCTCTCGGAAGGAGATG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		19622	0.0		0.001	False		,,,				2504	0.0					ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(1444-1446)tcG>tcA		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)	G		0,4406		0,0,2203	58.0	58.0	58.0		1446	-11.1	0.0	17		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLP2R	NM_004246.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		482/554	9792806	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9792806G>A	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.1446G>A	17.37:g.9792806G>A						GLP2R_ENST00000574745.1_Silent_p.S302S	p.S482S	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			13	1959	+			482					Q4VAT3	Silent	SNP	ENST00000262441.5	37	c.1446G>A	CCDS11150.1																																																																																				0.597	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			34	79	0	0	0	1	0	34	79				
EVPL	2125	broad.mit.edu	37	17	74005051	74005051	+	Missense_Mutation	SNP	A	A	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:74005051A>T	ENST00000301607.3	-	22	4488	c.4235T>A	c.(4234-4236)cTg>cAg	p.L1412Q	EVPL_ENST00000586740.1_Missense_Mutation_p.L1434Q|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1412	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCGGCCCGCAGCTGCTGCAC	0.697																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(4234-4236)cTg>cAg		envoplakin							36.0	41.0	39.0					17																	74005051		2203	4294	6497	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005051A>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.4235T>A	17.37:g.74005051A>T	ENSP00000301607:p.Leu1412Gln					EVPL_ENST00000586740.1_Missense_Mutation_p.L1434Q	p.L1412Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	4488	-			1412			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.4235T>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.384710	0.61845	.	.	ENSG00000167880	ENST00000301607	T	0.58506	0.33	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000004	T	0.77110	0.4082	M	0.81341	2.54	0.50632	D	0.999885	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.963	T	0.80946	-0.1155	10	0.87932	D	0	-28.9418	15.4304	0.75092	1.0:0.0:0.0:0.0	.	1434;1412	B7ZLH8;Q92817	.;EVPL_HUMAN	Q	1412	ENSP00000301607:L1412Q	ENSP00000301607:L1412Q	L	-	2	0	EVPL	71516646	1.000000	0.71417	0.995000	0.50966	0.917000	0.54804	7.429000	0.80309	2.054000	0.61138	0.533000	0.62120	CTG		0.697	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		47	76	0	0	0	1	0	47	76				
ZNF677	342926	broad.mit.edu	37	19	53754794	53754794	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:53754794A>G	ENST00000598513.1	-	3	160	c.10T>C	c.(10-12)Tct>Cct	p.S4P	ZNF677_ENST00000599012.1_Missense_Mutation_p.S4P|ZNF677_ENST00000594681.1_Missense_Mutation_p.S4P|ZNF677_ENST00000601828.1_Missense_Mutation_p.S4P|ZNF677_ENST00000601413.1_Missense_Mutation_p.S4P|ZNF677_ENST00000595293.1_5'UTR|ZNF677_ENST00000598806.1_Missense_Mutation_p.S4P|ZNF677_ENST00000333952.4_Missense_Mutation_p.S4P	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	4					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)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTACCTGAGAAAGAGCCATT	0.368																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(10-12)Tct>Cct		zinc finger protein 677							146.0	121.0	129.0					19																	53754794		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53754794A>G	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.10T>C	19.37:g.53754794A>G	ENSP00000469391:p.Ser4Pro					ZNF677_ENST00000598513.1_Missense_Mutation_p.S4P|ZNF677_ENST00000598806.1_Missense_Mutation_p.S4P|ZNF677_ENST00000594681.1_Missense_Mutation_p.S4P|ZNF677_ENST00000599012.1_Missense_Mutation_p.S4P|ZNF677_ENST00000601413.1_Missense_Mutation_p.S4P|ZNF677_ENST00000601828.1_Missense_Mutation_p.S4P|ZNF677_ENST00000595293.1_5'UTR	p.S4P			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	3	175	-			4						Missense_Mutation	SNP	ENST00000598513.1	37	c.10T>C	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.705868	0.00096	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.00801	5.68	2.72	0.064	0.14351	Krueppel-associated box (1);	.	.	.	.	T	0.00356	0.0011	N	0.02765	-0.5	0.09310	N	1	P	0.49090	0.919	B	0.31686	0.134	T	0.36335	-0.9752	9	0.08179	T	0.78	.	4.8472	0.13519	0.4838:0.0:0.0:0.5162	.	4	Q86XU0	ZN677_HUMAN	P	4	ENSP00000334394:S4P	ENSP00000334394:S4P	S	-	1	0	ZNF677	58446606	0.005000	0.15991	0.160000	0.22671	0.064000	0.16182	0.034000	0.13776	0.217000	0.20800	0.455000	0.32223	TCT		0.368	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		7	39	0	0	0	1	0	7	39				
EHBP1L1	254102	broad.mit.edu	37	11	65350465	65350465	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65350465G>A	ENST00000309295.4	+	9	2587	c.2322G>A	c.(2320-2322)ttG>ttA	p.L774L		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	774	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTGCGATATTGGGGACCCAAG	0.527																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2320-2322)ttG>ttA		EH domain binding protein 1-like 1							38.0	38.0	38.0					11																	65350465		1871	4103	5974	SO:0001819	synonymous_variant	254102							g.chr11:65350465G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2322G>A	11.37:g.65350465G>A							p.L774L	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	2587	+			774			Glu-rich.		Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	c.2322G>A	CCDS44649.1																																																																																				0.527	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		10	44	0	0	0	1	0	10	44				
QKI	9444	broad.mit.edu	37	6	163984721	163984721	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:163984721G>C	ENST00000361752.3	+	6	1455	c.904G>C	c.(904-906)Gag>Cag	p.E302Q	QKI_ENST00000453779.2_Missense_Mutation_p.E302Q|QKI_ENST00000392127.2_Missense_Mutation_p.E302Q|QKI_ENST00000361195.2_Missense_Mutation_p.E294Q|QKI_ENST00000424802.3_Missense_Mutation_p.E294Q|QKI_ENST00000275262.7_Missense_Mutation_p.E302Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	302					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ATCAATCCTTGAGTATCCTAT	0.423																																						ENST00000361752.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(904-906)Gag>Cag		QKI, KH domain containing, RNA binding							129.0	129.0	129.0					6																	163984721		2203	4300	6503	SO:0001583	missense	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163984721G>C	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.904G>C	6.37:g.163984721G>C	ENSP00000355094:p.Glu302Gln					QKI_ENST00000392127.2_Missense_Mutation_p.E302Q|QKI_ENST00000453779.2_Missense_Mutation_p.E302Q|QKI_ENST00000424802.3_Missense_Mutation_p.E294Q|QKI_ENST00000275262.7_Missense_Mutation_p.E302Q|QKI_ENST00000361195.2_Missense_Mutation_p.E294Q	p.E302Q	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	6	1455	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	302					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Missense_Mutation	SNP	ENST00000361752.3	37	c.904G>C	CCDS5285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.85|19.85	3.903913|3.903913	0.72754|0.72754	.|.	.|.	ENSG00000112531|ENSG00000112531	ENST00000453779;ENST00000275262;ENST00000392127;ENST00000361752;ENST00000361195;ENST00000424802|ENST00000537883;ENST00000544361	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.107189|.	0.64402|.	D|.	0.000002|.	T|.	0.67325|.	0.2881|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;P;P;P;P;P|.	0.51537|.	0.824;0.911;0.865;0.946;0.607;0.607|.	B;B;B;P;B;B|.	0.46253|.	0.263;0.376;0.301;0.509;0.187;0.187|.	T|.	0.63084|.	-0.6716|.	9|.	0.54805|.	T|.	0.06|.	-2.7325|-2.7325	19.9189|19.9189	0.97077|0.97077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	294;302;294;302;302;302|.	Q96PU8-3;Q96PU8;Q96PU8-5;Q96PU8-9;Q96PU8-6;Q96PU8-8|.	.;QKI_HUMAN;.;.;.;.|.	Q|S	302;302;302;302;294;294|198;135	.|.	ENSP00000275262:E302Q|.	E|X	+|+	1|2	0|2	QKI|QKI	163904711|163904711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.476000|9.476000	0.97823|0.97823	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.423	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		28	83	0	0	0	1	0	28	83				
DPP4	1803	broad.mit.edu	37	2	162865097	162865097	+	Silent	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:162865097C>T	ENST00000360534.3	-	22	2522	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	654					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	GGGATACAGGCGCCACGGCTA	0.468																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(1960-1962)gcG>gcA		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						95.0	86.0	89.0					2																	162865097		2203	4300	6503	SO:0001819	synonymous_variant	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162865097C>T	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.1962G>A	2.37:g.162865097C>T						DPP4_ENST00000491591.1_5'UTR	p.A654A	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			22	2522	-			654					Q53TN1	Silent	SNP	ENST00000360534.3	37	c.1962G>A	CCDS2216.1																																																																																				0.468	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			19	74	0	0	0	1	0	19	74				
KMT2C	58508	broad.mit.edu	37	7	151962255	151962255	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:151962255C>T	ENST00000262189.6	-	8	1270	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	KMT2C_ENST00000355193.2_Missense_Mutation_p.G351E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	351					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TAAGAGGTCTCCCGGGCTGTC	0.393																																						ENST00000355193.2																			0											c.(1051-1053)gGa>gAa		lysine (K)-specific methyltransferase 2C							154.0	142.0	146.0					7																	151962255		2203	4296	6499	SO:0001583	missense	58508							g.chr7:151962255C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1052G>A	7.37:g.151962255C>T	ENSP00000262189:p.Gly351Glu					KMT2C_ENST00000262189.6_Missense_Mutation_p.G351E	p.G351E							8	1270	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1052G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361625	0.41801	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99226	-5.59;-5.59	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.40640	U	0.001053	D	0.99336	0.9767	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99143	1.0856	10	0.87932	D	0	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	351	Q8NEZ4	MLL3_HUMAN	E	351	ENSP00000262189:G351E;ENSP00000347325:G351E	ENSP00000262189:G351E	G	-	2	0	MLL3	151593188	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.772000	0.85439	2.271000	0.75665	0.557000	0.71058	GGA		0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			19	218	0	0	0	1	0	19	218				
YRDC	79693	broad.mit.edu	37	1	38269639	38269639	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:38269639T>A	ENST00000373044.2	-	5	802	c.798A>T	c.(796-798)caA>caT	p.Q266H		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	266					negative regulation of transport (GO:0051051)	membrane (GO:0016020)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)			lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTACTTCTGTTGGAGGATGG	0.552																																						ENST00000373044.2																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(796-798)caA>caT		yrdC N(6)-threonylcarbamoyltransferase domain containing							153.0	120.0	131.0					1																	38269639		2203	4300	6503	SO:0001583	missense	79693				negative regulation of transport	membrane|mitochondrion		g.chr1:38269639T>A		CCDS30675.1	1p34.3	2013-09-12	2013-09-12		ENSG00000196449	ENSG00000196449			28905	protein-coding gene	gene with protein product	"""ischemia/reperfusion inducible protein"""	612276	"""yrdC domain containing (E.coli)"", ""yrdC domain containing (E. coli)"""			12730717	Standard	NM_024640		Approved	FLJ23476, IRIP, SUA5	uc001cca.1	Q86U90	OTTHUMG00000004318	ENST00000373044.2:c.798A>T	1.37:g.38269639T>A	ENSP00000362135:p.Gln266His						p.Q266H	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN			5	802	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	266					Q4W4X8|Q6NVW3|Q7L4E4|Q7Z2I4|Q9H5F8	Missense_Mutation	SNP	ENST00000373044.2	37	c.798A>T	CCDS30675.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.452130	0.43531	.	.	ENSG00000196449	ENST00000373044	.	.	.	5.31	-3.15	0.05233	DHBP synthase RibB-like alpha/beta domain (1);	0.419390	0.25469	N	0.030449	T	0.30293	0.0760	N	0.20881	0.62	0.30690	N	0.751365	B	0.02656	0.0	B	0.06405	0.002	T	0.14172	-1.0482	9	0.46703	T	0.11	.	14.1502	0.65378	0.0:0.7901:0.0:0.2099	.	266	Q86U90	YRDC_HUMAN	H	266	.	ENSP00000362135:Q266H	Q	-	3	2	YRDC	38042226	0.446000	0.25665	0.971000	0.41717	0.770000	0.43624	-0.458000	0.06737	-0.492000	0.06687	0.533000	0.62120	CAA		0.552	YRDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012470.1	NM_024640		17	45	0	0	0	1	0	17	45				
CEP68	23177	broad.mit.edu	37	2	65301482	65301482	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:65301482G>A	ENST00000377990.2	+	4	2154	c.1951G>A	c.(1951-1953)Ggg>Agg	p.G651R	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.G651R|CEP68_ENST00000537589.1_3'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.G514R	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	651					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TACTGACCACGGGACTGCAGC	0.483																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(1951-1953)Ggg>Agg		centrosomal protein 68kDa							138.0	134.0	136.0					2																	65301482		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65301482G>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.1951G>A	2.37:g.65301482G>A	ENSP00000367229:p.Gly651Arg					CEP68_ENST00000260569.4_Missense_Mutation_p.G514R|CEP68_ENST00000546106.1_Missense_Mutation_p.G651R|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_3'UTR	p.G651R	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN			4	2154	+			651					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.1951G>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	G	6.942	0.543562	0.13250	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.76316	-1.01;-1.01;-1.01	5.59	-1.98	0.07480	.	0.989525	0.08220	N	0.979324	T	0.43678	0.1258	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.16396	0.017;0.017;0.017;0.017	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.21655	-1.0239	10	0.22706	T	0.39	0.0	0.3206	0.00302	0.3016:0.1568:0.1559:0.3857	.	639;651;651;514	F5H3N9;F5H2Y2;Q76N32;Q76N32-2	.;.;CEP68_HUMAN;.	R	651;651;514;639	ENSP00000367229:G651R;ENSP00000438306:G651R;ENSP00000260569:G514R	ENSP00000260569:G514R	G	+	1	0	CEP68	65154986	0.651000	0.27340	0.000000	0.03702	0.036000	0.12997	-0.062000	0.11674	-0.524000	0.06400	-1.036000	0.02392	GGG		0.483	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		4	81	0	0	0	1	0	4	81				
NALCN	259232	broad.mit.edu	37	13	101759890	101759890	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr13:101759890C>G	ENST00000251127.6	-	22	2608	c.2527G>C	c.(2527-2529)Gaa>Caa	p.E843Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	843					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACCTGTGTTCTCGCCCGACA	0.498																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2527-2529)Gaa>Caa		sodium leak channel, non-selective							146.0	128.0	134.0					13																	101759890		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101759890C>G	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2527G>C	13.37:g.101759890C>G	ENSP00000251127:p.Glu843Gln						p.E843Q	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			22	2608	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		843					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2527G>C	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.214670	0.79352	.	.	ENSG00000102452	ENST00000251127	D	0.97831	-4.56	5.61	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	M	0.72118	2.19	0.80722	D	1	D	0.67145	0.996	P	0.61722	0.893	D	0.98623	1.0668	10	0.72032	D	0.01	.	14.5824	0.68300	0.0:0.93:0.0:0.07	.	843	Q8IZF0	NALCN_HUMAN	Q	843	ENSP00000251127:E843Q	ENSP00000251127:E843Q	E	-	1	0	NALCN	100557891	1.000000	0.71417	0.876000	0.34364	0.696000	0.40369	7.731000	0.84895	1.370000	0.46153	0.650000	0.86243	GAA		0.498	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		13	91	0	0	0	1	0	13	91				
GRB10	2887	broad.mit.edu	37	7	50742257	50742257	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:50742257G>A	ENST00000401949.1	-	6	707	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	GRB10_ENST00000406641.1_Silent_p.L22L|GRB10_ENST00000335866.3_Silent_p.L22L|GRB10_ENST00000402497.1_Silent_p.L22L|GRB10_ENST00000402578.1_Silent_p.L22L|GRB10_ENST00000403097.1_Silent_p.L74L|GRB10_ENST00000407526.1_Silent_p.L22L|GRB10_ENST00000398810.2_Silent_p.L22L|GRB10_ENST00000439599.1_Silent_p.L74L|GRB10_ENST00000398812.2_Silent_p.L80L|GRB10_ENST00000357271.5_Silent_p.L80L			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	80					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CCATTCTGCAGGAGGGGCACC	0.637									Russell-Silver syndrome																													ENST00000403097.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(220-222)Ctg>Ttg		growth factor receptor-bound protein 10							53.0	59.0	57.0					7																	50742257		2077	4213	6290	SO:0001819	synonymous_variant	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50742257G>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.238C>T	7.37:g.50742257G>A						GRB10_ENST00000407526.1_Silent_p.L22L|GRB10_ENST00000335866.3_Silent_p.L22L|GRB10_ENST00000357271.5_Silent_p.L80L|GRB10_ENST00000406641.1_Silent_p.L22L|GRB10_ENST00000402497.1_Silent_p.L22L|GRB10_ENST00000402578.1_Silent_p.L22L|GRB10_ENST00000401949.1_Silent_p.L80L|GRB10_ENST00000439599.1_Silent_p.L74L|GRB10_ENST00000398812.2_Silent_p.L80L|GRB10_ENST00000398810.2_Silent_p.L22L	p.L74L			Q13322	GRB10_HUMAN			5	1000	-	Glioma(55;0.08)|all_neural(89;0.245)		80					A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.220C>T	CCDS43582.1																																																																																				0.637	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			17	61	0	0	0	1	0	17	61				
NCDN	23154	broad.mit.edu	37	1	36030832	36030832	+	Silent	SNP	T	T	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:36030832T>G	ENST00000373243.2	+	7	2141	c.1758T>G	c.(1756-1758)ctT>ctG	p.L586L	NCDN_ENST00000373253.3_Silent_p.L569L|NCDN_ENST00000356090.4_Silent_p.L586L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	586					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGCAGCTCTTCAGGGAACAC	0.612											OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1756-1758)ctT>ctG		neurochondrin							101.0	112.0	108.0					1																	36030832		2203	4300	6503	SO:0001819	synonymous_variant	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36030832T>G	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1758T>G	1.37:g.36030832T>G			OREG0013355	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	859	NCDN_ENST00000373253.3_Silent_p.L569L|NCDN_ENST00000356090.4_Silent_p.L586L	p.L586L	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			7	2141	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	586					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Silent	SNP	ENST00000373243.2	37	c.1758T>G	CCDS392.1																																																																																				0.612	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		28	132	0	0	0	1	0	28	132				
ZNF208	7757	broad.mit.edu	37	19	22155266	22155266	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:22155266C>A	ENST00000397126.4	-	4	2718	c.2570G>T	c.(2569-2571)gGa>gTa	p.G857V	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	857					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGGTTTCTCTCCAGTATGAAT	0.373																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2569-2571)gGa>gTa		zinc finger protein 208							38.0	41.0	40.0					19																	22155266		2021	4198	6219	SO:0001583	missense	7757							g.chr19:22155266C>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2570G>T	19.37:g.22155266C>A	ENSP00000380315:p.Gly857Val					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.G857V	NM_007153.3	NP_009084.2					4	2718	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2570G>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114888	0.20795	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.23552	1.9	2.58	1.46	0.22682	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19327	0.0464	.	.	.	0.54753	D	0.999988	P	0.48016	0.904	B	0.39258	0.295	T	0.07868	-1.0750	8	0.87932	D	0	.	7.0337	0.24980	0.0:0.8483:0.0:0.1517	.	757	O43345	ZN208_HUMAN	V	857;757	ENSP00000380315:G857V	ENSP00000380315:G857V	G	-	2	0	ZNF208	21947106	0.000000	0.05858	0.497000	0.27552	0.541000	0.35023	0.180000	0.16860	1.024000	0.39682	0.289000	0.19496	GGA		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	58	1	0	8.12818e-05	1	8.39406e-05	6	58				
TATDN2	9797	broad.mit.edu	37	3	10290992	10290992	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:10290992C>G	ENST00000287652.4	+	2	1159	c.108C>G	c.(106-108)agC>agG	p.S36R	RP11-438J1.1_ENST00000450534.1_5'Flank|TATDN2_ENST00000448281.2_Missense_Mutation_p.S36R	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	36					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCCCCTCCAGCCGGCCAGCTC	0.672																																						ENST00000287652.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(106-108)agC>agG		TatD DNase domain containing 2							40.0	48.0	45.0					3																	10290992		2203	4297	6500	SO:0001583	missense	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10290992C>G	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.108C>G	3.37:g.10290992C>G	ENSP00000287652:p.Ser36Arg					TATDN2_ENST00000448281.2_Missense_Mutation_p.S36R	p.S36R	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN			2	1159	+			36					Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	37	c.108C>G	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772802	0.31411	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.30448	1.53;1.53	4.16	3.26	0.37387	.	.	.	.	.	T	0.29588	0.0738	L	0.60455	1.87	0.33965	D	0.646141	B	0.02656	0.0	B	0.06405	0.002	T	0.37220	-0.9715	9	0.87932	D	0	-1.282	9.0919	0.36617	0.2499:0.7501:0.0:0.0	.	36	Q93075	TATD2_HUMAN	R	36	ENSP00000287652:S36R;ENSP00000408736:S36R	ENSP00000287652:S36R	S	+	3	2	TATDN2	10265992	0.314000	0.24563	0.955000	0.39395	0.441000	0.31987	-0.043000	0.12043	1.011000	0.39340	0.563000	0.77884	AGC		0.672	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203		8	120	0	0	0	1	0	8	120				
SIN3A	25942	broad.mit.edu	37	15	75682073	75682073	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr15:75682073C>G	ENST00000394947.3	-	16	3255	c.2941G>C	c.(2941-2943)Gat>Cat	p.D981H	SIN3A_ENST00000360439.4_Missense_Mutation_p.D981H|SIN3A_ENST00000394949.4_Missense_Mutation_p.D981H	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCAGTGAATCTTCATACTGT	0.483																																						ENST00000394947.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						c.(2941-2943)Gat>Cat		SIN3 transcription regulator family member A							230.0	177.0	195.0					15																	75682073		2197	4294	6491	SO:0001583	missense	25942				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding	g.chr15:75682073C>G	AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2941G>C	15.37:g.75682073C>G	ENSP00000378402:p.Asp981His					SIN3A_ENST00000360439.4_Missense_Mutation_p.D981H|SIN3A_ENST00000394949.4_Missense_Mutation_p.D981H	p.D981H	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN			16	3255	-			981						Missense_Mutation	SNP	ENST00000394947.3	37	c.2941G>C	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008508	0.93346	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.62941	-0.01;-0.01;-0.01	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.83529	0.5274	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.86279	0.1666	10	0.87932	D	0	-25.0597	18.9999	0.92829	0.0:1.0:0.0:0.0	.	981	Q96ST3	SIN3A_HUMAN	H	981	ENSP00000378402:D981H;ENSP00000378403:D981H;ENSP00000353622:D981H	ENSP00000353622:D981H	D	-	1	0	SIN3A	73469126	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.758000	0.85224	2.742000	0.94016	0.650000	0.86243	GAT		0.483	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		43	92	0	0	0	1	0	43	92				
ACOT4	122970	broad.mit.edu	37	14	74062114	74062114	+	Missense_Mutation	SNP	G	G	A	rs375506372		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:74062114G>A	ENST00000326303.4	+	3	1276	c.1022G>A	c.(1021-1023)cGg>cAg	p.R341Q		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	341					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTCTCTGAACGGTTACAGGCC	0.517																																						ENST00000326303.4																			0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(1021-1023)cGg>cAg		acyl-CoA thioesterase 4		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	87.0	77.0	81.0		1022	3.9	0.0	14		81	0,8600		0,0,4300	no	missense	ACOT4	NM_152331.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	341/422	74062114	1,13005	2203	4300	6503	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74062114G>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.1022G>A	14.37:g.74062114G>A	ENSP00000323071:p.Arg341Gln						p.R341Q	NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	3	1276	+			341					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.1022G>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422365	0.43020	2.27E-4	0.0	ENSG00000177465	ENST00000326303	T	0.35236	1.32	5.74	3.86	0.44501	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.395926	0.22132	N	0.064174	T	0.40171	0.1106	L	0.47190	1.495	0.09310	N	0.999999	D	0.76494	0.999	P	0.55785	0.784	T	0.14200	-1.0481	10	0.24483	T	0.36	-14.5308	8.2993	0.32004	0.1389:0.0:0.7327:0.1284	.	341	Q8N9L9	ACOT4_HUMAN	Q	341	ENSP00000323071:R341Q	ENSP00000323071:R341Q	R	+	2	0	ACOT4	73131867	0.007000	0.16637	0.014000	0.15608	0.901000	0.52897	1.298000	0.33412	1.435000	0.47434	0.561000	0.74099	CGG		0.517	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331		14	60	0	0	0	1	0	14	60				
VILL	50853	broad.mit.edu	37	3	38040429	38040429	+	Silent	SNP	G	G	A	rs35699577		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr3:38040429G>A	ENST00000283713.6	+	10	1235	c.969G>A	c.(967-969)ccG>ccA	p.P323P	VILL_ENST00000383759.2_Silent_p.P323P|VILL_ENST00000465644.1_Silent_p.P41P			O15195	VILL_HUMAN	villin-like	323					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGGGCTACCCGACCTACACCA	0.657																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(967-969)ccG>ccA		villin-like							30.0	26.0	28.0					3																	38040429		2198	4295	6493	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38040429G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.969G>A	3.37:g.38040429G>A						VILL_ENST00000383759.2_Silent_p.P323P|VILL_ENST00000465644.1_Silent_p.P41P	p.P323P			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	10	1235	+			323					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.969G>A	CCDS2670.2																																																																																				0.657	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		8	28	0	0	0	1	0	8	28				
SH3TC1	54436	broad.mit.edu	37	4	8229893	8229893	+	Silent	SNP	C	C	T	rs529238778	byFrequency	TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:8229893C>T	ENST00000245105.3	+	12	2539	c.2472C>T	c.(2470-2472)atC>atT	p.I824I	SH3TC1_ENST00000539824.1_Silent_p.I748I	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	824										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TCCGTGCCATCGTGGACCACC	0.662													C|||	2	0.000399361	0.0	0.0	5008	,	,		17328	0.002		0.0	False		,,,				2504	0.0				NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2242-2244)atC>atT		SH3 domain and tetratricopeptide repeats 1							44.0	40.0	41.0					4																	8229893		2203	4298	6501	SO:0001819	synonymous_variant	54436						binding	g.chr4:8229893C>T	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.2472C>T	4.37:g.8229893C>T						SH3TC1_ENST00000245105.3_Silent_p.I824I	p.I748I			Q8TE82	S3TC1_HUMAN			12	2618	+			824					Q4W5G5	Silent	SNP	ENST00000245105.3	37	c.2244C>T	CCDS3399.1																																																																																				0.662	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		3	22	0	0	0	1	0	3	22				
C1RL	51279	broad.mit.edu	37	12	7254578	7254578	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr12:7254578G>A	ENST00000266542.4	-	3	498	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	C1RL_ENST00000544702.1_Missense_Mutation_p.R136W|C1RL_ENST00000545280.1_Intron|C1RL_ENST00000545337.1_Missense_Mutation_p.R136W	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	136	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAGGTCAGCCGCAAACTCCTC	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.001					ENST00000266542.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(406-408)Cgg>Tgg		complement component 1, r subcomponent-like							113.0	105.0	108.0					12																	7254578		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7254578G>A	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.406C>T	12.37:g.7254578G>A	ENSP00000266542:p.Arg136Trp					C1RL_ENST00000545337.1_Missense_Mutation_p.R136W|C1RL_ENST00000544702.1_Missense_Mutation_p.R136W|C1RL_ENST00000545280.1_Intron	p.R136W	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN			3	498	-			136			CUB.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.406C>T	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.958485|2.958485	0.53400|0.53400	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000534950|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.28895	.|1.59;1.59;1.59;1.59	3.76|3.76	2.83|2.83	0.33086|0.33086	.|CUB (5);	.|0.572616	.|0.14831	.|N	.|0.295867	T|T	0.41282|0.41282	0.1152|0.1152	L|L	0.36672|0.36672	1.1|1.1	0.30578|0.30578	N|N	0.762843|0.762843	.|D;D;B	.|0.89917	.|1.0;1.0;0.085	.|D;D;B	.|0.74674	.|0.984;0.932;0.042	T|T	0.34950|0.34950	-0.9808|-0.9808	5|10	.|0.72032	.|D	.|0.01	.|.	8.4735|8.4735	0.32999|0.32999	0.0:0.0:0.7683:0.2317|0.0:0.0:0.7683:0.2317	.|.	.|136;136;136	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	V|W	35|136	.|ENSP00000266542:R136W;ENSP00000441885:R136W;ENSP00000437398:R136W;ENSP00000442611:R136W	.|ENSP00000266542:R136W	A|R	-|-	2|1	0|2	C1RL|C1RL	7145854|7145854	0.008000|0.008000	0.16893|0.16893	0.643000|0.643000	0.29450|0.29450	0.916000|0.916000	0.54674|0.54674	0.914000|0.914000	0.28624|0.28624	1.112000|1.112000	0.41740|0.41740	0.462000|0.462000	0.41574|0.41574	GCG|CGG		0.607	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546		6	216	0	0	0	1	0	6	216				
PDE2A	5138	broad.mit.edu	37	11	72296443	72296443	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:72296443C>T	ENST00000334456.5	-	16	1503	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	PDE2A_ENST00000444035.2_Missense_Mutation_p.E411K|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000376450.3_Missense_Mutation_p.E164K|PDE2A_ENST00000418754.2_Missense_Mutation_p.E305K|PDE2A_ENST00000544570.1_Missense_Mutation_p.E413K|PDE2A_ENST00000540345.1_Missense_Mutation_p.E411K	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	420	GAF 2.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	TTTCTGGCCTCCGTGATGATC	0.607											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000334456.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1258-1260)Gag>Aag		phosphodiesterase 2A, cGMP-stimulated	Sildenafil(DB00203)|Sulindac(DB00605)						89.0	69.0	76.0					11																	72296443		2200	4293	6493	SO:0001583	missense	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72296443C>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1258G>A	11.37:g.72296443C>T	ENSP00000334910:p.Glu420Lys		OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1136	PDE2A_ENST00000444035.2_Missense_Mutation_p.E411K|PDE2A_ENST00000418754.2_Missense_Mutation_p.E305K|PDE2A_ENST00000376450.3_Missense_Mutation_p.E164K|PDE2A_ENST00000540345.1_Missense_Mutation_p.E411K|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000544570.1_Missense_Mutation_p.E413K	p.E420K	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		16	1503	-			420			GAF 2.		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Missense_Mutation	SNP	ENST00000334456.5	37	c.1258G>A	CCDS8216.1	.	.	.	.	.	.	.	.	.	.	C	36	5.905190	0.97087	.	.	ENSG00000186642	ENST00000334456;ENST00000376450;ENST00000444035;ENST00000429363;ENST00000544570;ENST00000418754;ENST00000540345;ENST00000475807	T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	5.71	5.71	0.89125	GAF (2);	0.193920	0.42420	D	0.000704	T	0.78629	0.4313	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D;D	0.76494	0.995;0.999;0.999;0.999;0.999;0.999	P;D;D;D;D;P	0.77557	0.773;0.99;0.987;0.964;0.99;0.902	T	0.76567	-0.2912	10	0.39692	T	0.17	.	18.4788	0.90804	0.0:1.0:0.0:0.0	.	305;420;411;413;420;164	E9PEF1;O00408;E9PGI1;F6W5Z0;B2R646;Q6ZMR1	.;PDE2A_HUMAN;.;.;.;.	K	420;164;411;489;413;305;411;244	ENSP00000334910:E420K;ENSP00000365633:E164K;ENSP00000411657:E411K;ENSP00000442256:E413K;ENSP00000410310:E305K;ENSP00000446399:E411K;ENSP00000439077:E244K	ENSP00000334910:E420K	E	-	1	0	PDE2A	71974091	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	7.111000	0.77077	2.717000	0.92951	0.485000	0.47835	GAG		0.607	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		10	84	0	0	0	1	0	10	84				
HTT	3064	broad.mit.edu	37	4	3189497	3189497	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr4:3189497G>A	ENST00000355072.5	+	39	5254	c.5109G>A	c.(5107-5109)ccG>ccA	p.P1703P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1703					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCTTCTCTCCGTATTTAATCT	0.403																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(5107-5109)ccG>ccA		huntingtin							151.0	139.0	142.0					4																	3189497		1827	4096	5923	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3189497G>A	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5109G>A	4.37:g.3189497G>A							p.P1703P	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	39	5254	+		all_epithelial(65;0.18)	1703					Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.5109G>A	CCDS43206.1																																																																																				0.403	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		4	97	0	0	0	1	0	4	97				
EHBP1L1	254102	broad.mit.edu	37	11	65350925	65350925	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65350925G>A	ENST00000309295.4	+	9	3047	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	928						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACAAGGGTCAGAGACTCAAGT	0.537																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2782-2784)Gag>Aag		EH domain binding protein 1-like 1							36.0	36.0	36.0					11																	65350925		1872	4086	5958	SO:0001583	missense	254102							g.chr11:65350925G>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2782G>A	11.37:g.65350925G>A	ENSP00000312671:p.Glu928Lys						p.E928K	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	3047	+			928					Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.2782G>A	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680547	0.47886	.	.	ENSG00000173442	ENST00000309295	T	0.72835	-0.69	3.94	3.01	0.34805	.	0.373188	0.19522	N	0.112247	T	0.52885	0.1762	L	0.29908	0.895	0.80722	D	1	B	0.32781	0.384	B	0.23716	0.048	T	0.47302	-0.9128	10	0.41790	T	0.15	.	8.8953	0.35460	0.1156:0.0:0.8844:0.0	.	928	Q8N3D4	EH1L1_HUMAN	K	928	ENSP00000312671:E928K	ENSP00000312671:E928K	E	+	1	0	EHBP1L1	65107501	0.002000	0.14202	0.008000	0.14137	0.027000	0.11550	1.021000	0.30040	0.608000	0.30000	0.436000	0.28706	GAG		0.537	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		11	28	0	0	0	1	0	11	28				
FYN	2534	broad.mit.edu	37	6	112029202	112029202	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:112029202G>A	ENST00000354650.3	-	6	972	c.366C>T	c.(364-366)gcC>gcT	p.A122A	FYN_ENST00000229470.5_Intron|FYN_ENST00000368678.4_Silent_p.A122A|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000229471.4_Silent_p.A122A|FYN_ENST00000356013.2_Silent_p.A122A|FYN_ENST00000538466.1_Silent_p.A122A|FYN_ENST00000368667.2_Silent_p.A122A|FYN_ENST00000368682.3_Silent_p.A122A	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	122	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCAAGGAGCGGGCTTCCCACC	0.418																																						ENST00000354650.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(364-366)gcC>gcT		FYN oncogene related to SRC, FGR, YES	Dasatinib(DB01254)						97.0	93.0	94.0					6																	112029202		2203	4300	6503	SO:0001819	synonymous_variant	2534				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity	g.chr6:112029202G>A	AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.366C>T	6.37:g.112029202G>A						FYN_ENST00000356013.2_Silent_p.A122A|FYN_ENST00000229470.5_Intron|FYN_ENST00000476769.2_5'UTR|FYN_ENST00000368682.3_Silent_p.A122A|FYN_ENST00000538466.1_Silent_p.A122A|FYN_ENST00000229471.4_Silent_p.A122A|FYN_ENST00000368667.2_Silent_p.A122A|FYN_ENST00000368678.4_Silent_p.A122A	p.A122A	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	6	972	-		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)	122			SH3.		B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Silent	SNP	ENST00000354650.3	37	c.366C>T	CCDS5094.1																																																																																				0.418	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1			13	49	0	0	0	1	0	13	49				
WNT9B	7484	broad.mit.edu	37	17	44950110	44950110	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:44950110T>C	ENST00000290015.2	+	2	358	c.305T>C	c.(304-306)cTg>cCg	p.L102P	WNT9B_ENST00000393461.2_Missense_Mutation_p.L102P	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	102					branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to starvation (GO:0009267)|collecting duct development (GO:0072044)|cornea development in camera-type eye (GO:0061303)|embryonic cranial skeleton morphogenesis (GO:0048701)|establishment of planar polarity involved in nephron morphogenesis (GO:0072046)|in utero embryonic development (GO:0001701)|kidney rudiment formation (GO:0072003)|male genitalia development (GO:0030539)|mesenchymal stem cell maintenance involved in nephron morphogenesis (GO:0072038)|mesonephric duct formation (GO:0072181)|metanephric tubule formation (GO:0072174)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|positive regulation of catalytic activity (GO:0043085)|regulation of asymmetric cell division (GO:0009786)|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339)|regulation of protein phosphorylation (GO:0001932)|regulation of tube size (GO:0035150)|response to retinoic acid (GO:0032526)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AACTGTAGCCTGGAGGGCAGG	0.672																																						ENST00000393461.2																			0				large_intestine(2)|lung(8)	10						c.(304-306)cTg>cCg		wingless-type MMTV integration site family, member 9B							16.0	19.0	18.0					17																	44950110		2195	4287	6482	SO:0001583	missense	7484				anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding	g.chr17:44950110T>C	AF028703	CCDS11506.1	17q21	2008-01-07	2003-03-11	2003-03-14		ENSG00000158955		"""Wingless-type MMTV integration sites"""	12779	protein-coding gene	gene with protein product		602864	"""wingless-type MMTV integration site family, member 15"""	WNT15		9441749, 11713592	Standard	NM_003396		Approved	WNT14B	uc002ikw.1	O14905		ENST00000290015.2:c.305T>C	17.37:g.44950110T>C	ENSP00000290015:p.Leu102Pro					WNT9B_ENST00000290015.2_Missense_Mutation_p.L102P	p.L102P			O14905	WNT9B_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	358	+			102					Q6UXT4|Q96Q09	Missense_Mutation	SNP	ENST00000290015.2	37	c.305T>C	CCDS11506.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496170	0.64186	.	.	ENSG00000158955	ENST00000393461;ENST00000290015	T;T	0.76060	-0.99;-0.99	4.49	4.49	0.54785	.	4.308990	0.00904	N	0.002400	D	0.83344	0.5234	L	0.46741	1.465	0.80722	D	1	D;P	0.61697	0.99;0.801	P;P	0.60541	0.876;0.678	T	0.68352	-0.5431	9	.	.	.	.	14.2396	0.65948	0.0:0.0:0.0:1.0	.	102;102	E7EPC3;O14905	.;WNT9B_HUMAN	P	102	ENSP00000377105:L102P;ENSP00000290015:L102P	.	L	+	2	0	WNT9B	42305109	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	5.982000	0.70532	2.017000	0.59298	0.379000	0.24179	CTG		0.672	WNT9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440433.1	NM_003396		7	31	0	0	0	1	0	7	31				
PREX1	57580	broad.mit.edu	37	20	47296206	47296206	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr20:47296206C>G	ENST00000371941.3	-	12	1544	c.1522G>C	c.(1522-1524)Gag>Cag	p.E508Q	PREX1_ENST00000396220.1_Missense_Mutation_p.E508Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	508					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ATGATGTCCTCCAGCTCACTT	0.592																																						ENST00000396220.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(1522-1524)Gag>Cag		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							162.0	124.0	137.0					20																	47296206		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47296206C>G	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1522G>C	20.37:g.47296206C>G	ENSP00000361009:p.Glu508Gln					PREX1_ENST00000371941.3_Missense_Mutation_p.E508Q	p.E508Q			Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		12	1544	-			508					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1522G>C	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447595	0.26074	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.14391	2.51;2.51	4.52	4.52	0.55395	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.53938	U	0.000041	T	0.05227	0.0139	N	0.01874	-0.695	0.53688	D	0.999974	B	0.28998	0.23	B	0.27796	0.083	T	0.25572	-1.0128	10	0.05436	T	0.98	.	17.2427	0.87017	0.0:1.0:0.0:0.0	.	508	Q8TCU6	PREX1_HUMAN	Q	508	ENSP00000361009:E508Q;ENSP00000379522:E508Q	ENSP00000361009:E508Q	E	-	1	0	PREX1	46729613	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.346000	0.52190	2.073000	0.62155	0.442000	0.29010	GAG		0.592	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		19	80	0	0	0	1	0	19	80				
INHBA	3624	broad.mit.edu	37	7	41729352	41729352	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:41729352G>A	ENST00000242208.4	-	3	1423	c.1177C>T	c.(1177-1179)Ccc>Tcc	p.P393S	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.P393S|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	393					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCTTGGTGGGCACACAGCAC	0.522										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1177-1179)Ccc>Tcc		inhibin, beta A							137.0	114.0	122.0					7																	41729352		2203	4300	6503	SO:0001583	missense	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729352G>A		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.1177C>T	7.37:g.41729352G>A	ENSP00000242208:p.Pro393Ser	TSP Lung(11;0.080)				INHBA_ENST00000442711.1_Missense_Mutation_p.P393S|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	p.P393S	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	1423	-			393					Q14599	Missense_Mutation	SNP	ENST00000242208.4	37	c.1177C>T	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	19.61	3.859115	0.71834	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	D;D	0.83755	-1.76;-1.76	5.86	5.86	0.93980	Transforming growth factor-beta, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.94506	0.8231	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95467	0.8548	10	0.87932	D	0	-19.6268	20.1781	0.98191	0.0:0.0:1.0:0.0	.	393	P08476	INHBA_HUMAN	S	393	ENSP00000242208:P393S;ENSP00000397197:P393S	ENSP00000242208:P393S	P	-	1	0	INHBA	41695877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.860000	0.99555	2.778000	0.95560	0.591000	0.81541	CCC		0.522	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			4	103	0	0	0	1	0	4	103				
CRB1	23418	broad.mit.edu	37	1	197404200	197404200	+	Silent	SNP	A	A	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:197404200A>C	ENST00000367400.3	+	9	3342	c.3207A>C	c.(3205-3207)ggA>ggC	p.G1069G	CRB1_ENST00000367397.1_Silent_p.G450G|CRB1_ENST00000535699.1_Silent_p.G1045G|CRB1_ENST00000544212.1_Silent_p.G550G|CRB1_ENST00000367399.2_Silent_p.G957G|CRB1_ENST00000538660.1_Intron|RP11-75C23.1_ENST00000422250.1_RNA	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1069	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TTGCTACTGGAAGCCTCAACT	0.443																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1348-1350)ggA>ggC		crumbs homolog 1 (Drosophila)							70.0	75.0	73.0					1																	197404200		2202	4297	6499	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197404200A>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.3207A>C	1.37:g.197404200A>C						CRB1_ENST00000367399.2_Silent_p.G957G|CRB1_ENST00000367400.3_Silent_p.G1069G|CRB1_ENST00000544212.1_Silent_p.G550G|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.G1045G	p.G450G			P82279	CRUM1_HUMAN			5	2208	+			1069			EGF-like 11.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1350A>C	CCDS1390.1																																																																																				0.443	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		4	118	0	0	0	1	0	4	118				
TRIM3	10612	broad.mit.edu	37	11	6472280	6472280	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:6472280C>T	ENST00000525074.1	-	9	2106	c.1712G>A	c.(1711-1713)gGa>gAa	p.G571E	TRIM3_ENST00000359518.3_Missense_Mutation_p.G571E|TRIM3_ENST00000345851.3_Missense_Mutation_p.G571E|TRIM3_ENST00000537602.1_Missense_Mutation_p.G493E|TRIM3_ENST00000536344.1_Missense_Mutation_p.G452E	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	571					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGGCCAGCTCCAATCTTGGT	0.527																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(1711-1713)gGa>gAa		tripartite motif containing 3							41.0	40.0	40.0					11																	6472280		2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6472280C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.1712G>A	11.37:g.6472280C>T	ENSP00000433102:p.Gly571Glu					TRIM3_ENST00000359518.3_Missense_Mutation_p.G571E|TRIM3_ENST00000536344.1_Missense_Mutation_p.G452E|TRIM3_ENST00000537602.1_Missense_Mutation_p.G493E|TRIM3_ENST00000345851.3_Missense_Mutation_p.G571E	p.G571E	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	9	2106	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	571					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.1712G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689133	0.88735	.	.	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000537602;ENST00000359518;ENST00000536344	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67;-2.67	5.25	5.25	0.73442	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.984	D	0.93923	0.7207	10	0.52906	T	0.07	-9.6909	16.3971	0.83610	0.0:1.0:0.0:0.0	.	452;571	F5H2Q8;O75382	.;TRIM3_HUMAN	E	571;571;571;571;560;493;571;452	ENSP00000433102:G571E;ENSP00000340797:G571E;ENSP00000441091:G493E;ENSP00000352508:G571E;ENSP00000445460:G452E	ENSP00000337094:G560E	G	-	2	0	TRIM3	6428856	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.510000	0.81708	2.724000	0.93272	0.563000	0.77884	GGA		0.527	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		11	49	0	0	0	1	0	11	49				
EHBP1L1	254102	broad.mit.edu	37	11	65350558	65350558	+	Missense_Mutation	SNP	G	G	T	rs184817605	byFrequency	TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65350558G>T	ENST00000309295.4	+	9	2680	c.2415G>T	c.(2413-2415)gaG>gaT	p.E805D		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	805	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGTTCAGAGGTTCCAGAGA	0.522																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(2413-2415)gaG>gaT		EH domain binding protein 1-like 1							42.0	43.0	43.0					11																	65350558		1877	4088	5965	SO:0001583	missense	254102							g.chr11:65350558G>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2415G>T	11.37:g.65350558G>T	ENSP00000312671:p.Glu805Asp						p.E805D	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	2680	+			805			Glu-rich.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.2415G>T	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741231	0.30865	.	.	ENSG00000173442	ENST00000309295	T	0.68025	-0.3	4.57	-1.06	0.10002	.	0.727893	0.11314	N	0.576766	T	0.44603	0.1301	N	0.14661	0.345	0.09310	N	1	P	0.42827	0.791	B	0.38378	0.272	T	0.31280	-0.9949	10	0.40728	T	0.16	.	9.2555	0.37581	0.4212:0.0:0.5788:0.0	.	805	Q8N3D4	EH1L1_HUMAN	D	805	ENSP00000312671:E805D	ENSP00000312671:E805D	E	+	3	2	EHBP1L1	65107134	0.021000	0.18746	0.000000	0.03702	0.000000	0.00434	0.914000	0.28624	-0.233000	0.09797	-0.137000	0.14449	GAG		0.522	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		14	49	1	0	4.3838e-07	1	4.72595e-07	14	49				
HAPLN3	145864	broad.mit.edu	37	15	89424836	89424836	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr15:89424836C>T	ENST00000359595.3	-	3	459	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R144Q	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	82	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	ACGCACACGCCGCGGGGAGAC	0.662																																						ENST00000359595.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17						c.(244-246)cGg>cAg		hyaluronan and proteoglycan link protein 3							69.0	68.0	68.0					15																	89424836		2200	4299	6499	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424836C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.245G>A	15.37:g.89424836C>T	ENSP00000352606:p.Arg82Gln					HAPLN3_ENST00000562889.1_Missense_Mutation_p.R144Q	p.R82Q	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN			3	459	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		82			Ig-like V-type.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.245G>A	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625173	0.46840	.	.	ENSG00000140511	ENST00000359595	T	0.65364	-0.15	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71434	0.3339	M	0.62723	1.935	0.09310	N	0.99999	D;D	0.69078	0.997;0.997	D;D	0.66084	0.913;0.941	T	0.61633	-0.7023	10	0.25751	T	0.34	-22.8035	11.3481	0.49573	0.0:0.9069:0.0:0.0931	.	82;82	A8K7T8;Q96S86	.;HPLN3_HUMAN	Q	82	ENSP00000352606:R82Q	ENSP00000352606:R82Q	R	-	2	0	HAPLN3	87225840	1.000000	0.71417	0.016000	0.15963	0.003000	0.03518	3.440000	0.52886	1.874000	0.54306	0.655000	0.94253	CGG		0.662	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		31	117	0	0	0	1	0	31	117				
EHBP1L1	254102	broad.mit.edu	37	11	65349860	65349860	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr11:65349860G>T	ENST00000309295.4	+	9	1982	c.1717G>T	c.(1717-1719)Gag>Tag	p.E573*		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	573	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTGGAAACAGAGACTGAGGT	0.582																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1717-1719)Gag>Tag		EH domain binding protein 1-like 1							22.0	24.0	24.0					11																	65349860		1876	4102	5978	SO:0001587	stop_gained	254102							g.chr11:65349860G>T	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1717G>T	11.37:g.65349860G>T	ENSP00000312671:p.Glu573*						p.E573*	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1982	+			573			Glu-rich.		Q8TB89|Q9H7M7	Nonsense_Mutation	SNP	ENST00000309295.4	37	c.1717G>T	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	37	6.437403	0.97568	.	.	ENSG00000173442	ENST00000309295	.	.	.	4.7	2.78	0.32641	.	0.000000	0.41823	D	0.000818	.	.	.	.	.	.	0.33829	D	0.629999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.7971	0.29154	0.2084:0.0:0.7916:0.0	.	.	.	.	X	573	.	ENSP00000312671:E573X	E	+	1	0	EHBP1L1	65106436	0.998000	0.40836	0.042000	0.18584	0.004000	0.04260	4.041000	0.57339	1.108000	0.41662	-0.136000	0.14681	GAG		0.582	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		12	41	1	0	5.50884e-06	1	5.76992e-06	12	41				
XDH	7498	broad.mit.edu	37	2	31570414	31570414	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr2:31570414C>T	ENST00000379416.3	-	29	3298	c.3250G>A	c.(3250-3252)Gct>Act	p.A1084T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1084					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	TTGAGGTCAGCGCTGACAGAG	0.587																																					Colon(66;682 1445 30109 40147)	ENST00000379416.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74						c.(3250-3252)Gct>Act		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						89.0	91.0	90.0					2																	31570414		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31570414C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3250G>A	2.37:g.31570414C>T	ENSP00000368727:p.Ala1084Thr						p.A1084T	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN			29	3298	-	Acute lymphoblastic leukemia(172;0.155)		1084					Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.3250G>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	3.818	-0.038260	0.07497	.	.	ENSG00000158125	ENST00000379416	T	0.35605	1.3	5.85	-3.82	0.04281	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.472269	0.27147	N	0.020711	T	0.10380	0.0254	N	0.02275	-0.615	0.41055	D	0.985338	B	0.12630	0.006	B	0.08055	0.003	T	0.25467	-1.0131	10	0.12103	T	0.63	.	8.4047	0.32608	0.2079:0.5372:0.0:0.2549	.	1084	P47989	XDH_HUMAN	T	1084	ENSP00000368727:A1084T	ENSP00000368727:A1084T	A	-	1	0	XDH	31423918	0.074000	0.21230	0.895000	0.35142	0.017000	0.09413	-0.611000	0.05622	-0.584000	0.05913	-0.302000	0.09304	GCT		0.587	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		4	118	0	0	0	1	0	4	118				
ZBTB1	22890	broad.mit.edu	37	14	64988828	64988828	+	Silent	SNP	T	T	C			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr14:64988828T>C	ENST00000554015.1	+	4	1037	c.606T>C	c.(604-606)tcT>tcC	p.S202S	ZBTB1_ENST00000358738.3_Silent_p.S202S|ZBTB1_ENST00000394712.2_Silent_p.S202S|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	202					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CCAAATTATCTACTCCAAAAG	0.388																																						ENST00000358738.3																			0				kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13						c.(604-606)tcT>tcC		zinc finger and BTB domain containing 1							92.0	94.0	93.0					14																	64988828		2203	4300	6503	SO:0001819	synonymous_variant	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64988828T>C	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.606T>C	14.37:g.64988828T>C						ZBTB1_ENST00000554015.1_Silent_p.S202S|ZBTB1_ENST00000394712.2_Silent_p.S202S|RP11-973N13.4_ENST00000554918.1_RNA	p.S202S	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	2	997	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	202					A8K6S8|Q86SW8	Silent	SNP	ENST00000554015.1	37	c.606T>C	CCDS45126.1																																																																																				0.388	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			27	122	0	0	0	1	0	27	122				
CYP39A1	51302	broad.mit.edu	37	6	46620227	46620227	+	Silent	SNP	G	G	A			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:46620227G>A	ENST00000275016.2	-	1	296	c.93C>T	c.(91-93)tgC>tgT	p.C31C	SLC25A27_ENST00000371347.5_5'Flank|SLC25A27_ENST00000411689.2_5'Flank|SLC25A27_ENST00000452689.2_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	31					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AGCCCTTGATGCACGGGGGTC	0.448																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(91-93)tgC>tgT		cytochrome P450, family 39, subfamily A, polypeptide 1							219.0	236.0	231.0					6																	46620227		2203	4300	6503	SO:0001819	synonymous_variant	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46620227G>A	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.93C>T	6.37:g.46620227G>A							p.C31C	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			1	296	-			31					Q5VTT0|Q96FW5	Silent	SNP	ENST00000275016.2	37	c.93C>T	CCDS4916.1																																																																																				0.448	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			68	331	0	0	0	1	0	68	331				
SYNE4	163183	broad.mit.edu	37	19	36497710	36497710	+	Missense_Mutation	SNP	C	C	T	rs201815155		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:36497710C>T	ENST00000324444.3	-	4	671	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_5'Flank|SYNE4_ENST00000340477.5_Intron	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	187					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											GATGGAGTCTCGGTAAGCTCC	0.677													C|||	1	0.000199681	0.0	0.0	5008	,	,		14382	0.001		0.0	False		,,,				2504	0.0					ENST00000324444.3																			0											c.(559-561)cGa>cAa		spectrin repeat containing, nuclear envelope family member 4							15.0	21.0	19.0					19																	36497710		1968	4136	6104	SO:0001583	missense	163183							g.chr19:36497710C>T	BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.560G>A	19.37:g.36497710C>T	ENSP00000316130:p.Arg187Gln					SYNE4_ENST00000340477.5_Intron	p.R187Q	NM_001039876.1	NP_001034965.1					4	671	-								A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	ENST00000324444.3	37	c.560G>A	CCDS42553.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	16.19	3.051715	0.55218	.	.	ENSG00000181392	ENST00000324444;ENST00000490730	T;T	0.51325	0.71;0.71	5.83	1.26	0.21427	.	0.863692	0.10357	N	0.684406	T	0.30008	0.0751	L	0.40543	1.245	0.21627	N	0.999614	P;B	0.52463	0.953;0.428	B;B	0.35114	0.196;0.074	T	0.15723	-1.0427	10	0.41790	T	0.15	-40.9395	4.9477	0.13999	0.1462:0.6149:0.0:0.2389	.	187;187	D6RAE3;Q8N205	.;SYNE4_HUMAN	Q	187	ENSP00000316130:R187Q;ENSP00000422716:R187Q	ENSP00000316130:R187Q	R	-	2	0	C19orf46	41189550	0.343000	0.24818	0.957000	0.39632	0.800000	0.45204	0.409000	0.21082	0.377000	0.24735	0.655000	0.94253	CGA		0.677	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109525.3	NM_001039876		7	24	0	0	0	1	0	7	24				
CDH7	1005	broad.mit.edu	37	18	63491992	63491992	+	Silent	SNP	G	G	A	rs374395832		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr18:63491992G>A	ENST00000397968.2	+	6	1332	c.906G>A	c.(904-906)gtG>gtA	p.V302V	CDH7_ENST00000536984.2_Silent_p.V302V|CDH7_ENST00000323011.3_Silent_p.V302V	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	302	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACAAGATTGTGGATGGTGATG	0.378																																						ENST00000536984.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(904-906)gtG>gtA		cadherin 7, type 2		G	,	0,4406		0,0,2203	157.0	147.0	150.0		906,906	3.8	1.0	18		150	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDH7	NM_004361.2,NM_033646.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	302/786,302/786	63491992	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63491992G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.906G>A	18.37:g.63491992G>A						CDH7_ENST00000397968.2_Silent_p.V302V|CDH7_ENST00000323011.3_Silent_p.V302V	p.V302V			Q9ULB5	CADH7_HUMAN			6	1600	+		Esophageal squamous(42;0.129)	302			Cadherin 3.		Q9H157	Silent	SNP	ENST00000397968.2	37	c.906G>A	CCDS11993.1																																																																																				0.378	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		5	55	0	0	0	1	0	5	55				
DNAJB4	11080	broad.mit.edu	37	1	78470850	78470853	+	Frame_Shift_Del	DEL	ATAT	ATAT	-			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:78470850_78470853delATAT	ENST00000370763.5	+	1	313_316	c.56_59delATAT	c.(55-60)gatattfs	p.DI19fs	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_Intron|RP11-386I14.4_ENST00000608684.1_RNA	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	19	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TCAGATGAAGATATTAAAAAGGCT	0.363																																						ENST00000370763.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(55-60)gtfs		DnaJ (Hsp40) homolog, subfamily B, member 4																																				SO:0001589	frameshift_variant	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78470850_78470853delATAT	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.56_59delATAT	1.37:g.78470850_78470853delATAT	ENSP00000359799:p.Asp19fs					DNAJB4_ENST00000487931.1_Intron|GIPC2_ENST00000476882.1_Intron	p.DI19fs	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN			1	313_316	+			19			J.		B2R824|Q13431	Frame_Shift_Del	DEL	ENST00000370763.5	37	c.56_59delATAT	CCDS684.1																																																																																				0.363	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			41	123						41	123	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181726170	181726173	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr1:181726170_181726173delTTCT	ENST00000367573.2	+	30	4237_4240	c.4237_4240delTTCT	c.(4237-4242)ttctttfs	p.FF1413fs	CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.FF1345fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.FF1413fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.FF1364fs|CACNA1E_ENST00000526775.1_Frame_Shift_Del_p.FF1394fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.FF1020fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.FF1394fs	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1413					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.F1414L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCCCCTTCTTCTTTGTCAATAT	0.475																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.F1414L(1)	breast(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(4180-4185)ttfs		calcium channel, voltage-dependent, R type, alpha 1E subunit																																				SO:0001589	frameshift_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181726170_181726173delTTCT	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4237_4240delTTCT	1.37:g.181726170_181726173delTTCT	ENSP00000356545:p.Phe1413fs					CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.FF1345fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.FF1413fs|CACNA1E_ENST00000367567.4_Frame_Shift_Del_p.FF1020fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.FF1413fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.FF1364fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.FF1394fs	p.FF1394fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			29	4345_4348	+			1413					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Frame_Shift_Del	DEL	ENST00000367573.2	37	c.4180_4183delTTCT	CCDS55664.1																																																																																				0.475	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		29	73						29	73	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599260	136599261	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr6:136599260_136599261delAG	ENST00000531224.1	-	4	1010_1011	c.758_759delCT	c.(757-759)tctfs	p.S253fs	BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.S253fs|BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.S253fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.S251fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.S251fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.S251fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	253					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TATTTTTTGCAGAGTGAACTGT	0.446																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(757-759)tfs		BCL2-associated transcription factor 1																																				SO:0001589	frameshift_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599260_136599261delAG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.758_759delCT	6.37:g.136599262_136599263delAG	ENSP00000435210:p.Ser253fs					BCLAF1_ENST00000530767.1_Frame_Shift_Del_p.S253fs|BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.S251fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.S253fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.S251fs|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.S251fs	p.S253fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1010_1011	-	Colorectal(23;0.24)		253					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Frame_Shift_Del	DEL	ENST00000531224.1	37	c.758_759delCT	CCDS5177.1																																																																																				0.446	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		15	116						15	116	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143141293	143141294	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr7:143141293_143141294delCT	ENST00000332690.1	+	1	748_749	c.748_749delCT	c.(748-750)ctcfs	p.L250fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	250					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCTGGCTCTCCTCTCTTTTGCC	0.495																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(748-750)cfs		taste receptor, type 2, member 60																																				SO:0001589	frameshift_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141293_143141294delCT	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.748_749delCT	7.37:g.143141297_143141298delCT	ENSP00000327724:p.Leu250fs					EPHA1-AS1_ENST00000429289.1_RNA	p.L250fs	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	748_749	+	Melanoma(164;0.172)		250					A4D2G8|Q645W8|Q7RTR7	Frame_Shift_Del	DEL	ENST00000332690.1	37	c.748_749delCT	CCDS5885.1																																																																																				0.495	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			18	101						18	101	---	---	---	---
FLYWCH1	84256	broad.mit.edu	37	16	2986360	2986362	+	Intron	DEL	TCC	TCC	-			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr16:2986360_2986362delTCC	ENST00000253928.9	+	7	1918				FLYWCH1_ENST00000570752.1_3'UTR|FLYWCH1_ENST00000416288.2_Intron|FLYWCH1_ENST00000399667.2_In_Frame_Del_p.S533del			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						CCCCTCAGGGTCCTCCTGCCTCC	0.68																																						ENST00000399667.2																			0				kidney(1)|lung(3)	4						c.(1594-1596)del		FLYWCH-type zinc finger 1																																				SO:0001627	intron_variant	84256					nucleus	DNA binding|metal ion binding	g.chr16:2986360_2986362delTCC	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1514-760TCC>-	16.37:g.2986363_2986365delTCC						FLYWCH1_ENST00000416288.2_Intron|FLYWCH1_ENST00000570752.1_3'UTR|FLYWCH1_ENST00000253928.9_Intron	p.S533del			Q4VC44	FWCH1_HUMAN			8	1957_1959	+			505					D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	In_Frame_Del	DEL	ENST00000253928.9	37	c.1594_1596delTCC																																																																																					0.680	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000436479.1	NM_032296		2	4						2	4	---	---	---	---
RPL23AP87	388574	broad.mit.edu	37	17	81188370	81188371	+	RNA	DEL	AT	AT	-	rs371375349		TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr17:81188370_81188371delAT	ENST00000425566.1	+	0	2053_2054					NR_029406.1																						aattttgaagatacagttgttt	0.223																																						ENST00000425566.1																			0																																																			388574							g.chr17:81188370_81188371delAT																													17.37:g.81188370_81188371delAT								NR_029406.1						0	2053_2054	+									RNA	DEL	ENST00000425566.1	37																																																																																						0.223	AC139099.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000438917.1			2	4						2	4	---	---	---	---
HIPK4	147746	broad.mit.edu	37	19	40885564	40885565	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr19:40885564_40885565insG	ENST00000291823.2	-	4	2064_2065	c.1780_1781insC	c.(1780-1782)cgcfs	p.R594fs		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	594					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGGGAGCGGCGGGGTGGGAGC	0.678																																						ENST00000291823.2																			0				breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20						c.(1780-1782)ccgfs		homeodomain interacting protein kinase 4				92,3974		8,76,1949						-2.8	0.0			20	206,7742		18,170,3786	no	frameshift	HIPK4	NM_144685.3		26,246,5735	A1A1,A1R,RR		2.5918,2.2627,2.4804				298,11716				SO:0001589	frameshift_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40885564_40885565insG	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1781dupC	19.37:g.40885568_40885568dupG	ENSP00000291823:p.Arg594fs						p.P594fs	NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		4	2064_2065	-			594					A8K863|Q96M54	Frame_Shift_Ins	INS	ENST00000291823.2	37	c.1780_1781insC	CCDS12555.1																																																																																				0.678	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		2	4						2	4	---	---	---	---
CECR2	27443	broad.mit.edu	37	22	17979677	17979677	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:17979677delA	ENST00000400585.2	+	5	509	c.71delA	c.(70-72)caafs	p.Q24fs	CECR2_ENST00000342247.5_Frame_Shift_Del_p.Q145fs|CECR2_ENST00000400573.5_Frame_Shift_Del_p.Q165fs|CECR2_ENST00000262608.8_Frame_Shift_Del_p.Q146fs			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	187					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGTGAAGGACAAAAAAATGTC	0.363																																						ENST00000262608.8																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59						c.(436-438)cafs		cat eye syndrome chromosome region, candidate 2				31,3417		10,11,1703	44.0	47.0	46.0			4.9	1.0	22		46	46,7664		8,30,3817	no	frameshift	CECR2	NM_031413.3		18,41,5520	A1A1,A1R,RR		0.5966,0.8991,0.6901			17979677	77,11081	1782	4024	5806	SO:0001589	frameshift_variant	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:17979677delA	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.71delA	22.37:g.17979677delA	ENSP00000383428:p.Gln24fs					CECR2_ENST00000400585.2_Frame_Shift_Del_p.Q24fs|CECR2_ENST00000400573.4_Frame_Shift_Del_p.Q165fs|CECR2_ENST00000342247.5_Frame_Shift_Del_p.Q145fs	p.Q146fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	4	437	+		all_epithelial(15;0.139)	187					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Frame_Shift_Del	DEL	ENST00000400585.2	37	c.437delA																																																																																					0.363	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413		2	4						2	4	---	---	---	---
CRKL	1399	broad.mit.edu	37	22	21304075	21304075	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chr22:21304075delT	ENST00000354336.3	+	3	1363	c.854delT	c.(853-855)cttfs	p.L285fs		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	285	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			CGCAAAGGGCTTTTCCCCTTT	0.468																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14						c.(853-855)ctfs		v-crk avian sarcoma virus CT10 oncogene homolog-like							215.0	202.0	207.0					22																	21304075		2203	4300	6503	SO:0001589	frameshift_variant	1399				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity	g.chr22:21304075delT		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.854delT	22.37:g.21304075delT	ENSP00000346300:p.Leu285fs						p.L285fs	NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)		3	1363	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	285			SH3 2.		A8KA44|D3DX35	Frame_Shift_Del	DEL	ENST00000354336.3	37	c.854delT	CCDS13785.1																																																																																				0.468	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	NM_005207		8	1078						8	1078	---	---	---	---
PCYT1B	9468	broad.mit.edu	37	X	24593404	24593404	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IQ-A61H-01A-11D-A30E-08	TCGA-IQ-A61H-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba951306-939e-41b5-9eb3-edf2073c4920	50084462-d5a5-4110-98ec-430d14046af3	g.chrX:24593404delT	ENST00000379144.2	-	7	870	c.740delA	c.(739-741)gacfs	p.D247fs	PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.D247fs|PCYT1B_ENST00000379145.1_Frame_Shift_Del_p.D229fs	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	247					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTTCATTTTGTCCACTTGGTT	0.378																																						ENST00000379145.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17						c.(685-687)gcfs		phosphate cytidylyltransferase 1, choline, beta	Choline(DB00122)						166.0	136.0	146.0					X																	24593404		2203	4300	6503	SO:0001589	frameshift_variant	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24593404delT	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.740delA	X.37:g.24593404delT	ENSP00000368439:p.Asp247fs					PCYT1B_ENST00000356768.4_Frame_Shift_Del_p.D247fs|PCYT1B_ENST00000492876.1_5'UTR|PCYT1B_ENST00000379144.2_Frame_Shift_Del_p.D247fs	p.D229fs	NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN			7	730	-			247			Catalytic (Potential).		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Frame_Shift_Del	DEL	ENST00000379144.2	37	c.686delA	CCDS14213.1																																																																																				0.378	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		15	22						15	22	---	---	---	---
