#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ESPNP	284729	broad.mit.edu	37	1	17046492	17046492	+	RNA	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:17046492G>T	ENST00000492551.1	-	0	160					NR_026567.1				espin pseudogene																		CCTCAGGGAGGGGAAGTCTCC	0.627																																						ENST00000492551.1																			0																																																			284729							g.chr1:17046492G>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17046492G>T								NR_026567.1						0	160	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.627	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	62	5	62	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19488928	19488928	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:19488928G>T	ENST00000375254.3	-	35	4969	c.4942C>A	c.(4942-4944)Cag>Aag	p.Q1648K	UBR4_ENST00000375226.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375267.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375217.2_Missense_Mutation_p.Q1648K	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1648					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCCTCAGCCTGGGAATCTTCC	0.502																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4942-4944)Cag>Aag		ubiquitin protein ligase E3 component n-recognin 4							126.0	117.0	120.0					1																	19488928		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19488928G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4942C>A	1.37:g.19488928G>T	ENSP00000364403:p.Gln1648Lys					UBR4_ENST00000375217.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375226.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375254.3_Missense_Mutation_p.Q1648K	p.Q1648K			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	35	4945	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1648					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4942C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745206	0.49151	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.63546	0.2520	N	0.22421	0.69	0.80722	D	1	P	0.40332	0.713	P	0.54815	0.761	T	0.51244	-0.8730	10	0.06625	T	0.88	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1648	Q5T4S7	UBR4_HUMAN	K	1648;1648;1648;1648;358;864	ENSP00000364403:Q1648K;ENSP00000364416:Q1648K;ENSP00000364365:Q1648K;ENSP00000364374:Q1648K	ENSP00000364365:Q1648K	Q	-	1	0	UBR4	19361515	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.414000	0.97362	2.894000	0.99253	0.591000	0.81541	CAG		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		8	174	8	174	---	---	---	---
DNALI1	7802	broad.mit.edu	37	1	38023281	38023281	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:38023281C>A	ENST00000296218.7	+	2	235	c.225C>A	c.(223-225)ccC>ccA	p.P75P	DNALI1_ENST00000541606.1_5'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	53					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAAGCTCCCCTCAACTCCCT	0.562																																						ENST00000296218.7																			0				breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5						c.(223-225)ccC>ccA		dynein, axonemal, light intermediate chain 1							174.0	169.0	170.0					1																	38023281		2203	4300	6503	SO:0001819	synonymous_variant	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38023281C>A	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.225C>A	1.37:g.38023281C>A						DNALI1_ENST00000541606.1_5'UTR	p.P75P	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN			2	235	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	53					A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Silent	SNP	ENST00000296218.7	37	c.225C>A	CCDS420.1																																																																																				0.562	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		7	202	7	202	---	---	---	---
MFSD2A	84879	broad.mit.edu	37	1	40422864	40422864	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:40422864C>A	ENST00000372809.5	+	2	342	c.199C>A	c.(199-201)Ctt>Att	p.L67I	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L67I	NM_001136493.1	NP_001129965.1	Q8NA29	NLS1_HUMAN	major facilitator superfamily domain containing 2A	67					establishment of blood-brain barrier (GO:0060856)|fatty acid transport (GO:0015908)|lipid transport across blood brain barrier (GO:1990379)|transcytosis (GO:0045056)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phospholipid transporter activity (GO:0005548)|symporter activity (GO:0015293)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGGTTTCTTCCTTCAGATCTA	0.532																																						ENST00000372809.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(199-201)Ctt>Att		major facilitator superfamily domain containing 2A							175.0	179.0	178.0					1																	40422864		2203	4300	6503	SO:0001583	missense	84879				transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr1:40422864C>A	AK093223	CCDS446.1, CCDS44118.1, CCDS72762.1	1p34.2	2009-09-08	2009-09-08	2009-09-08	ENSG00000168389	ENSG00000168389			25897	protein-coding gene	gene with protein product		614397	"""major facilitator superfamily domain containing 2"""	MFSD2		18694395	Standard	XM_005271285		Approved	FLJ14490	uc001cev.3	Q8NA29	OTTHUMG00000009293	ENST00000372809.5:c.199C>A	1.37:g.40422864C>A	ENSP00000361895:p.Leu67Ile					MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L67I	p.L67I	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN			2	342	+			67					A8K675|Q6UWU5|Q96F59|Q9BRC8	Missense_Mutation	SNP	ENST00000372809.5	37	c.199C>A	CCDS44118.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639046	0.87760	.	.	ENSG00000168389	ENST00000372811;ENST00000434861;ENST00000372809	D;D;D	0.90955	-2.76;-2.76;-2.76	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	M	0.77103	2.36	0.80722	D	1	D;P	0.56035	0.974;0.916	P;P	0.59115	0.852;0.674	D	0.94920	0.8072	10	0.62326	D	0.03	-9.129	16.9853	0.86338	0.0:1.0:0.0:0.0	.	67;67	Q8NA29;Q8NA29-2	MFS2A_HUMAN;.	I	67;65;67	ENSP00000361898:L67I;ENSP00000407606:L65I;ENSP00000361895:L67I	ENSP00000361895:L67I	L	+	1	0	MFSD2A	40195451	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.948000	0.49066	2.250000	0.74265	0.462000	0.41574	CTT		0.532	MFSD2A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025756.1	NM_032793		8	217	8	217	---	---	---	---
FOXJ3	22887	broad.mit.edu	37	1	42657173	42657173	+	Silent	SNP	G	G	T	rs1139979		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:42657173G>T	ENST00000372572.1	-	11	1463	c.1152C>A	c.(1150-1152)ccC>ccA	p.P384P	FOXJ3_ENST00000361346.1_Silent_p.P384P|FOXJ3_ENST00000361776.1_Silent_p.P350P|FOXJ3_ENST00000545068.1_Silent_p.P384P|FOXJ3_ENST00000372573.1_Silent_p.P384P|FOXJ3_ENST00000372571.1_5'Flank	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	384					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCGGTCGATGGGGAGGATGTG	0.602																																						ENST00000372572.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1150-1152)ccC>ccA		forkhead box J3							440.0	350.0	381.0					1																	42657173		2203	4300	6503	SO:0001819	synonymous_variant	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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.chr1:42657173G>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1152C>A	1.37:g.42657173G>T						FOXJ3_ENST00000372573.1_Silent_p.P384P|FOXJ3_ENST00000361346.1_Silent_p.P384P|FOXJ3_ENST00000545068.1_Silent_p.P384P|FOXJ3_ENST00000361776.1_Silent_p.P350P	p.P384P	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN			11	1463	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	384					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Silent	SNP	ENST00000372572.1	37	c.1152C>A	CCDS30689.1																																																																																				0.602	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		9	194	9	194	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98039454	98039454	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:98039454C>A	ENST00000370192.3	-	11	1301	c.1201G>T	c.(1201-1203)Ggg>Tgg	p.G401W		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	401					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACAATTCTCCCACCTTTTACT	0.413																																						ENST00000370192.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(1201-1203)Ggg>Tgg		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						147.0	128.0	134.0					1																	98039454		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98039454C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1201G>T	1.37:g.98039454C>A	ENSP00000359211:p.Gly401Trp						p.G401W	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	11	1301	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	401					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1201G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883393	0.72410	.	.	ENSG00000188641	ENST00000370192	D	0.96011	-3.88	5.81	4.89	0.63831	.	0.351548	0.33040	N	0.005341	D	0.98595	0.9530	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.99395	1.0926	10	0.87932	D	0	-6.4631	14.9729	0.71249	0.0:0.8576:0.1424:0.0	.	401	Q12882	DPYD_HUMAN	W	401	ENSP00000359211:G401W	ENSP00000359211:G401W	G	-	1	0	DPYD	97812042	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	5.716000	0.68437	1.436000	0.47453	0.650000	0.86243	GGG		0.413	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		5	84	5	84	---	---	---	---
DPH5	51611	broad.mit.edu	37	1	101479332	101479332	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:101479332C>A	ENST00000370109.3	-	4	415	c.303G>T	c.(301-303)ctG>ctT	p.L101L	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Silent_p.L101L|DPH5_ENST00000342173.7_Silent_p.L101L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	101					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		AAGGAATTCCCAGCTTTGTTG	0.383																																						ENST00000370109.3																			0				endometrium(2)|large_intestine(1)|lung(4)	7						c.(301-303)ctG>ctT		diphthamide biosynthesis 5							149.0	138.0	141.0					1																	101479332		1861	4104	5965	SO:0001819	synonymous_variant	51611				peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity	g.chr1:101479332C>A	AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.303G>T	1.37:g.101479332C>A						DPH5_ENST00000488176.1_Silent_p.L101L|DPH5_ENST00000342173.7_Silent_p.L101L|DPH5_ENST00000370105.3_5'UTR	p.L101L	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)	4	415	-		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	101					A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Silent	SNP	ENST00000370109.3	37	c.303G>T	CCDS41358.1																																																																																				0.383	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000029881.1	NM_015958		6	119	6	119	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109794119	109794119	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:109794119G>T	ENST00000271332.3	+	1	1479	c.1418G>T	c.(1417-1419)cGg>cTg	p.R473L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	473	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TACACCCTACGGGTGCGAGCA	0.557																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(1417-1419)cGg>cTg		cadherin, EGF LAG seven-pass G-type receptor 2							171.0	166.0	168.0					1																	109794119		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109794119G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1418G>T	1.37:g.109794119G>T	ENSP00000271332:p.Arg473Leu						p.R473L	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	1479	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	473			Cadherin 3.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.1418G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	12.92	2.081716	0.36758	.	.	ENSG00000143126	ENST00000271332	T	0.01665	4.7	4.82	4.82	0.62117	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01661	0.0053	N	0.04636	-0.2	0.42210	D	0.991801	D	0.69078	0.997	D	0.75484	0.986	T	0.79317	-0.1853	9	0.26408	T	0.33	.	18.1629	0.89716	0.0:0.0:1.0:0.0	.	473	Q9HCU4	CELR2_HUMAN	L	473	ENSP00000271332:R473L	ENSP00000271332:R473L	R	+	2	0	CELSR2	109595642	1.000000	0.71417	0.014000	0.15608	0.340000	0.28889	9.601000	0.98297	2.543000	0.85770	0.555000	0.69702	CGG		0.557	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		6	236	6	236	---	---	---	---
ANKRD35	148741	broad.mit.edu	37	1	145561888	145561888	+	Missense_Mutation	SNP	C	C	A	rs375339912		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:145561888C>A	ENST00000355594.4	+	10	1663	c.1576C>A	c.(1576-1578)Cgt>Agt	p.R526S		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	526										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGGACTCCCCGTGCTGAGGC	0.622																																					Melanoma(9;127 754 22988 51047)	ENST00000355594.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47						c.(1576-1578)Cgt>Agt		ankyrin repeat domain 35							65.0	80.0	75.0					1																	145561888		2199	4300	6499	SO:0001583	missense	148741							g.chr1:145561888C>A	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.1576C>A	1.37:g.145561888C>A	ENSP00000347802:p.Arg526Ser						p.R526S	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN			10	1663	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		526					A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.1576C>A	CCDS919.1	.	.	.	.	.	.	.	.	.	.	c	10.85	1.467348	0.26335	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.69435	-0.4	5.24	1.02	0.19986	.	0.760419	0.10968	N	0.614237	T	0.36386	0.0965	M	0.63428	1.95	0.19300	N	0.999972	P	0.35684	0.515	B	0.33846	0.171	T	0.17289	-1.0374	10	0.21014	T	0.42	-8.3765	6.467	0.21987	0.4788:0.4353:0.0:0.0859	.	526	Q8N283	ANR35_HUMAN	S	435;526	ENSP00000347802:R526S	ENSP00000347802:R526S	R	+	1	0	ANKRD35	144273245	0.000000	0.05858	0.262000	0.24481	0.580000	0.36256	0.059000	0.14322	0.026000	0.15269	-0.119000	0.15052	CGT		0.622	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	NM_144698		5	186	5	186	---	---	---	---
HIST2H2BF	440689	broad.mit.edu	37	1	149783602	149783602	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:149783602G>T	ENST00000369167.1	-	1	312	c.277C>A	c.(277-279)Cgc>Agc	p.R93S	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR	NM_001024599.4	NP_001019770.1	Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	93					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					TGGATCTCGCGGGATGTGATG	0.647																																						ENST00000427880.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(277-279)Cgc>Agc		histone cluster 2, H2bf							27.0	26.0	26.0					1																	149783602		2203	4277	6480	SO:0001583	missense	440689				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149783602G>T	BC110793	CCDS30846.1, CCDS53359.1	1q21.2	2013-06-03	2006-10-11		ENSG00000203814	ENSG00000203814		"""Histones / Replication-dependent"""	24700	protein-coding gene	gene with protein product			"""histone 2, H2bf"""				Standard	NM_001161334		Approved		uc010pbj.2	Q5QNW6	OTTHUMG00000183159	ENST00000369167.1:c.277C>A	1.37:g.149783602G>T	ENSP00000358164:p.Arg93Ser					HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S	p.R93S			Q5QNW6	H2B2F_HUMAN			1	323	-	Breast(34;0.0124)|all_hematologic(923;0.127)		93					A8K0U9|B4DLA9	Missense_Mutation	SNP	ENST00000369167.1	37	c.277C>A	CCDS30846.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927385	0.52759	.	.	ENSG00000203814	ENST00000545683;ENST00000427880;ENST00000369167	T;T;T	0.52057	0.68;0.68;0.68	3.56	3.56	0.40772	Histone-fold (2);Histone core (1);	0.000000	0.56097	D	0.000040	T	0.76877	0.4049	H	0.98629	4.285	0.39265	D	0.964282	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.81914	0.995;0.988;0.946	D	0.86259	0.1654	10	0.87932	D	0	.	14.937	0.70964	0.0:0.0:1.0:0.0	.	93;93;93	B4DR52;B4DLA9;Q5QNW6	.;.;H2B2F_HUMAN	S	93	ENSP00000445831:R93S;ENSP00000407461:R93S;ENSP00000358164:R93S	ENSP00000358164:R93S	R	-	1	0	HIST2H2BF	148050226	1.000000	0.71417	0.996000	0.52242	0.192000	0.23643	3.331000	0.52075	2.287000	0.76781	0.195000	0.17529	CGC		0.647	HIST2H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033453.2	NM_001024599		6	68	6	68	---	---	---	---
MTX1	4580	broad.mit.edu	37	1	155181949	155181949	+	Missense_Mutation	SNP	G	G	T	rs139091255		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:155181949G>T	ENST00000368376.3	+	4	816	c.710G>T	c.(709-711)cGg>cTg	p.R237L	MTX1_ENST00000609421.1_Missense_Mutation_p.R88L|GBAP1_ENST00000486869.1_RNA|MTX1_ENST00000316721.4_Intron|MTX1_ENST00000495589.1_3'UTR|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	237					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTGTCAGCTCGGCAAGGGGCA	0.577																																						ENST00000368376.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						c.(709-711)cGg>cTg		metaxin 1							81.0	72.0	75.0					1																	155181949		2203	4300	6503	SO:0001583	missense	4580				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	g.chr1:155181949G>T		CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708	ENST00000368376.3:c.710G>T	1.37:g.155181949G>T	ENSP00000357360:p.Arg237Leu					RP11-263K19.6_ENST00000455788.1_RNA|MTX1_ENST00000316721.4_Intron|MTX1_ENST00000495589.1_3'UTR|MTX1_ENST00000609421.1_Missense_Mutation_p.R88L	p.R237L	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	816	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		237					B1AVR9|B1AVS0|B2R9P4|Q9BUU3	Missense_Mutation	SNP	ENST00000368376.3	37	c.710G>T	CCDS1100.1	.	.	.	.	.	.	.	.	.	.	.	16.35	3.098498	0.56183	.	.	ENSG00000173171	ENST00000368376	T	0.31510	1.49	4.8	4.8	0.61643	.	0.062453	0.64402	D	0.000005	T	0.18130	0.0435	L	0.44542	1.39	0.80722	D	1	D	0.54207	0.965	P	0.46479	0.518	T	0.02075	-1.1218	10	0.45353	T	0.12	-13.4447	9.0666	0.36467	0.1014:0.0:0.8986:0.0	.	237	Q13505	MTX1_HUMAN	L	237	ENSP00000357360:R237L	ENSP00000357360:R237L	R	+	2	0	MTX1	153448573	0.018000	0.18449	0.984000	0.44739	0.984000	0.73092	0.494000	0.22467	2.195000	0.70347	0.563000	0.77884	CGG		0.577	MTX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000086844.1	NM_198883		4	63	4	63	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167802321	167802321	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:167802321G>T	ENST00000367851.4	-	25	3681	c.3497C>A	c.(3496-3498)cCt>cAt	p.P1166H	ADCY10_ENST00000367848.1_Missense_Mutation_p.P1074H|ADCY10_ENST00000545172.1_Missense_Mutation_p.P1013H	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1166					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TAAGTTGTAAGGAAAGATTCG	0.473																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(3220-3222)cCt>cAt		adenylate cyclase 10 (soluble)							270.0	277.0	275.0					1																	167802321		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167802321G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.3497C>A	1.37:g.167802321G>T	ENSP00000356825:p.Pro1166His					ADCY10_ENST00000545172.1_Missense_Mutation_p.P1013H|ADCY10_ENST00000367851.4_Missense_Mutation_p.P1166H	p.P1074H			Q96PN6	ADCYA_HUMAN			25	3718	-			1166					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.3221C>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856079	0.91355	.	.	ENSG00000143199	ENST00000545172;ENST00000271426;ENST00000367851;ENST00000367848	T;T;T	0.59224	0.28;0.32;0.3	5.48	5.48	0.80851	.	0.000000	0.64402	D	0.000006	T	0.71039	0.3293	M	0.75264	2.295	0.33921	D	0.640933	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.74711	-0.3573	9	0.87932	D	0	-19.4737	15.2075	0.73190	0.0:0.0:1.0:0.0	.	1074;1166	Q96PN6-2;Q96PN6	.;ADCYA_HUMAN	H	1013;67;1166;1074	ENSP00000441992:P1013H;ENSP00000356825:P1166H;ENSP00000356822:P1074H	ENSP00000271426:P67H	P	-	2	0	ADCY10	166068945	0.998000	0.40836	0.250000	0.24296	0.743000	0.42351	4.720000	0.61944	2.739000	0.93911	0.643000	0.83706	CCT		0.473	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		8	352	8	352	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176913135	176913135	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:176913135C>T	ENST00000367654.3	-	14	2504	c.2293G>A	c.(2293-2295)Ggt>Agt	p.G765S	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	765					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGTCTAAACCACGAGCAAAG	0.483																																						ENST00000367654.3																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(2293-2295)Ggt>Agt		astrotactin 1							120.0	113.0	115.0					1																	176913135		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176913135C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2293G>A	1.37:g.176913135C>T	ENSP00000356626:p.Gly765Ser					ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S	p.G765S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN			14	2504	-								A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2293G>A		.	.	.	.	.	.	.	.	.	.	C	32	5.136306	0.94517	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15718	2.4;2.82;2.82;2.41	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	N	0.19112	0.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	T	0.06162	-1.0842	10	0.19590	T	0.45	-20.1378	18.966	0.92697	0.0:1.0:0.0:0.0	.	765;757;757	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	757;757;765;757;757	ENSP00000356629:G757S;ENSP00000354536:G757S;ENSP00000356626:G765S;ENSP00000395041:G757S	ENSP00000354536:G757S	G	-	1	0	ASTN1	175179758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.837000	0.75354	2.576000	0.86940	0.655000	0.94253	GGT		0.483	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		17	59	17	59	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	177030392	177030392	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:177030392C>A	ENST00000367654.3	-	2	504	c.293G>T	c.(292-294)gGg>gTg	p.G98V	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G98V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G98V|ASTN1_ENST00000367657.3_Missense_Mutation_p.G98V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	98					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTGTGTTCCCTGAGATCTC	0.483																																						ENST00000367654.3																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(292-294)gGg>gTg		astrotactin 1							127.0	120.0	123.0					1																	177030392		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030392C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.293G>T	1.37:g.177030392C>A	ENSP00000356626:p.Gly98Val					ASTN1_ENST00000361833.2_Missense_Mutation_p.G98V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G98V|ASTN1_ENST00000424564.2_Missense_Mutation_p.G98V	p.G98V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN			2	504	-								A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.293G>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.062764	0.76187	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.35605	1.3;1.7;1.69;1.31	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	L	0.52573	1.65	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	T	0.56056	-0.8042	10	0.87932	D	0	-22.0861	20.2159	0.98296	0.0:1.0:0.0:0.0	.	98;98;98	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	98	ENSP00000356629:G98V;ENSP00000354536:G98V;ENSP00000356626:G98V;ENSP00000395041:G98V	ENSP00000354536:G98V	G	-	2	0	ASTN1	175297015	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.679000	0.84048	2.882000	0.98803	0.655000	0.94253	GGG		0.483	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	126	6	126	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178425884	178425884	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:178425884C>A	ENST00000462775.1	+	11	1942	c.1817C>A	c.(1816-1818)cCt>cAt	p.P606H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P747H|RASAL2_ENST00000448150.3_Missense_Mutation_p.P736H	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	606					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGGCCTCTCCCTCGTGTTCTT	0.448																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2206-2208)cCt>cAt		RAS protein activator like 2							222.0	231.0	228.0					1																	178425884		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178425884C>A	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.1817C>A	1.37:g.178425884C>A	ENSP00000420558:p.Pro606His					RASAL2_ENST00000462775.1_Missense_Mutation_p.P606H|RASAL2_ENST00000367649.3_Missense_Mutation_p.P747H	p.P736H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			13	3025	+			606					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.2207C>A	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991396	0.74703	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.32753	1.44;2.23;1.5	5.16	5.16	0.70880	Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.059645	0.64402	D	0.000002	T	0.62011	0.2393	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.995;0.935;0.999	T	0.67624	-0.5623	10	0.56958	D	0.05	.	18.6466	0.91413	0.0:1.0:0.0:0.0	.	736;606;747	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	H	736;747;606	ENSP00000407768:P736H;ENSP00000356621:P747H;ENSP00000420558:P606H	ENSP00000356621:P747H	P	+	2	0	RASAL2	176692507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.330000	0.79181	2.381000	0.81170	0.655000	0.94253	CCT		0.448	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		8	305	8	305	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196254844	196254844	+	Silent	SNP	C	C	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:196254844C>T	ENST00000294725.9	-	23	3555	c.2640G>A	c.(2638-2640)ctG>ctA	p.L880L	KCNT2_ENST00000367433.5_Silent_p.L856L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Silent_p.L806L|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Silent_p.L806L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	880					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCAAAAGGCAGTCGAAACA	0.373																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(2566-2568)ctG>ctA		potassium channel, subfamily T, member 2							85.0	83.0	83.0					1																	196254844		2203	4300	6503	SO:0001819	synonymous_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196254844C>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2640G>A	1.37:g.196254844C>T						KCNT2_ENST00000609185.1_Silent_p.L806L|KCNT2_ENST00000294725.9_Silent_p.L880L|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR	p.L856L	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN			22	2669	-			880					Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	c.2568G>A	CCDS1384.1																																																																																				0.373	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		15	44	15	44	---	---	---	---
G0S2	50486	broad.mit.edu	37	1	209849324	209849324	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:209849324C>A	ENST00000367029.4	+	2	457	c.295C>A	c.(295-297)Cgg>Agg	p.R99R	RP1-28O10.1_ENST00000445272.1_RNA|RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1 switch 2	99					cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281)	lipid particle (GO:0005811)|mitochondrion (GO:0005739)				large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CCTGTCCAACCGGCAGCACGC	0.662																																						ENST00000367029.4																			0				large_intestine(2)	2						c.(295-297)Cgg>Agg		G0/G1switch 2							14.0	17.0	16.0					1																	209849324		2116	4191	6307	SO:0001819	synonymous_variant	50486				cell cycle			g.chr1:209849324C>A		CCDS1488.1	1q32.2	2014-04-22	2014-04-22		ENSG00000123689	ENSG00000123689			30229	protein-coding gene	gene with protein product	"""putative lymphocyte G0/G1 switch gene"""	614447	"""G0/G1switch 2"""			1930693, 10645953	Standard	NM_015714		Approved		uc001hhi.4	P27469	OTTHUMG00000036479	ENST00000367029.4:c.295C>A	1.37:g.209849324C>A						RP1-28O10.1_ENST00000441672.1_RNA	p.R99R	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.041)	2	457	+			99					Q6FGC8	Silent	SNP	ENST00000367029.4	37	c.295C>A	CCDS1488.1																																																																																				0.662	G0S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088732.1	NM_015714		4	49	4	49	---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210796981	210796981	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:210796981G>T	ENST00000367010.1	+	11	1584	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	HHAT_ENST00000308852.6_Missense_Mutation_p.G408W|HHAT_ENST00000545781.1_Missense_Mutation_p.G390W|HHAT_ENST00000537898.1_Missense_Mutation_p.G388W|HHAT_ENST00000261458.3_Missense_Mutation_p.G453W|HHAT_ENST00000367009.1_Missense_Mutation_p.G143W|HHAT_ENST00000413764.2_Missense_Mutation_p.G453W|HHAT_ENST00000545154.1_Missense_Mutation_p.G454W|HHAT_ENST00000391905.3_Missense_Mutation_p.G453W|HHAT_ENST00000541565.1_Missense_Mutation_p.G316W	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	453	GTP-binding. {ECO:0000305}.				multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CAATGAGGTTGGGAAAACCTA	0.488																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1357-1359)Ggg>Tgg		hedgehog acyltransferase							283.0	269.0	274.0					1																	210796981		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210796981G>T	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1357G>T	1.37:g.210796981G>T	ENSP00000355977:p.Gly453Trp					HHAT_ENST00000413764.2_Missense_Mutation_p.G453W|HHAT_ENST00000391905.3_Missense_Mutation_p.G453W|HHAT_ENST00000537898.1_Missense_Mutation_p.G388W|HHAT_ENST00000367009.1_Missense_Mutation_p.G143W|HHAT_ENST00000261458.3_Missense_Mutation_p.G453W|HHAT_ENST00000541565.1_Missense_Mutation_p.G316W|HHAT_ENST00000545154.1_Missense_Mutation_p.G454W|HHAT_ENST00000545781.1_Missense_Mutation_p.G390W|HHAT_ENST00000308852.6_Missense_Mutation_p.G408W	p.G453W	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	11	1584	+			453			GTP-binding (Probable).		B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.1357G>T	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383211	0.82792	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.53423	1.84;0.62;1.85;1.95;1.89;1.91;1.84;1.89;1.84;0.71	6.16	6.16	0.99307	.	0.174797	0.49916	D	0.000131	T	0.66954	0.2842	L	0.58101	1.795	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	0.999;1.0;0.998;0.999;0.999	T	0.65413	-0.6174	10	0.62326	D	0.03	-26.4846	17.7766	0.88510	0.0:0.0:1.0:0.0	.	408;454;316;388;453	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	W	453;316;454;388;453;390;453;408;453;143	ENSP00000416845:G453W;ENSP00000444995:G316W;ENSP00000438468:G454W;ENSP00000442625:G388W;ENSP00000375773:G453W;ENSP00000439229:G390W;ENSP00000261458:G453W;ENSP00000308628:G408W;ENSP00000355977:G453W;ENSP00000355976:G143W	ENSP00000261458:G453W	G	+	1	0	HHAT	208863604	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.964000	0.76061	2.937000	0.99478	0.650000	0.86243	GGG		0.488	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		8	275	8	275	---	---	---	---
COG2	22796	broad.mit.edu	37	1	230824182	230824182	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:230824182C>A	ENST00000366669.4	+	15	1783	c.1668C>A	c.(1666-1668)tcC>tcA	p.S556S	COG2_ENST00000546013.1_Silent_p.S245S|COG2_ENST00000366668.3_Silent_p.S555S|COG2_ENST00000490900.1_3'UTR|COG2_ENST00000535166.1_Silent_p.S440S|COG2_ENST00000534989.1_Silent_p.S497S	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	556					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGGAGGACTCCCAGAGCTCTT	0.458																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1489-1491)tcC>tcA		component of oligomeric golgi complex 2							92.0	93.0	93.0					1																	230824182		2203	4300	6503	SO:0001819	synonymous_variant	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230824182C>A	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1668C>A	1.37:g.230824182C>A						COG2_ENST00000366669.4_Silent_p.S556S|COG2_ENST00000366668.3_Silent_p.S555S|COG2_ENST00000490900.1_3'UTR|COG2_ENST00000535166.1_Silent_p.S440S|COG2_ENST00000546013.1_Silent_p.S245S	p.S497S			Q14746	COG2_HUMAN			15	1826	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	556					Q86U99	Silent	SNP	ENST00000366669.4	37	c.1491C>A	CCDS1584.1																																																																																				0.458	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		5	86	5	86	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248128879	248128879	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:248128879C>A	ENST00000366480.3	+	1	345	c.246C>A	c.(244-246)tcC>tcA	p.S82S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GTCAGCTCTCCATCGTTGACC	0.463																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(244-246)tcC>tcA		olfactory receptor, family 2, subfamily AK, member 2							195.0	173.0	181.0					1																	248128879		2203	4300	6503	SO:0001819	synonymous_variant	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128879C>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.246C>A	1.37:g.248128879C>A						OR2L13_ENST00000366478.2_Intron	p.S82S	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	345	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		82					B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	37	c.246C>A	CCDS31102.1																																																																																				0.463	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		6	161	6	161	---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249212551	249212551	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:249212551C>A	ENST00000329291.5	+	3	1915	c.1768C>A	c.(1768-1770)Cac>Aac	p.H590N	PGBD2_ENST00000539153.1_Missense_Mutation_p.H587N|PGBD2_ENST00000355360.4_Missense_Mutation_p.H339N	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	590										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGGGAGTACCACATCCGGTG	0.478																																						ENST00000355360.4																			0				NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(1015-1017)Cac>Aac		piggyBac transposable element derived 2							113.0	116.0	115.0					1																	249212551		2202	4299	6501	SO:0001583	missense	267002							g.chr1:249212551C>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1768C>A	1.37:g.249212551C>A	ENSP00000331643:p.His590Asn					PGBD2_ENST00000329291.5_Missense_Mutation_p.H590N|PGBD2_ENST00000539153.1_Missense_Mutation_p.H587N	p.H339N	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1285	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	590					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1015C>A	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	12.29	1.892202	0.33442	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.45668	1.07;0.89;0.9	3.22	3.22	0.36961	.	0.000000	0.49916	D	0.000135	T	0.55273	0.1910	L	0.54323	1.7	0.29822	N	0.830767	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.956	T	0.52939	-0.8508	10	0.87932	D	0	.	10.1894	0.43017	0.0:1.0:0.0:0.0	.	587;590	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	N	339;590;587	ENSP00000355424:H339N;ENSP00000331643:H590N;ENSP00000439950:H587N	ENSP00000331643:H590N	H	+	1	0	PGBD2	247179174	1.000000	0.71417	0.996000	0.52242	0.314000	0.28054	3.079000	0.50104	2.086000	0.62901	0.591000	0.81541	CAC		0.478	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			7	104	7	104	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71816722	71816722	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:71816722G>T	ENST00000258104.3	+	31	3625		c.e31-1		DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000409651.1_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGTGTCTCCAGGGCGGCGTGA	0.562																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						c.e31-1		dysferlin							192.0	161.0	172.0					2																	71816722		2203	4300	6503	SO:0001630	splice_region_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71816722G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3349-1G>T	2.37:g.71816722G>T						DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000409582.3_Splice_Site		NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			31	3625	+								A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Splice_Site	SNP	ENST00000258104.3	37		CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361508	0.24684	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0164	0.64527	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYSF	71670230	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.968000	0.87980	2.436000	0.82500	0.561000	0.74099	.		0.562	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	Intron	6	126	6	126	---	---	---	---
SUCLG1	8802	broad.mit.edu	37	2	84670410	84670410	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:84670410C>A	ENST00000393868.2	-	3	526	c.316G>T	c.(316-318)Gag>Tag	p.E106*		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	106					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTAATTACCTCCTTCACAGTA	0.453																																					Ovarian(48;203 1101 37206 40305 50790)	ENST00000393868.2																			0				kidney(4)|large_intestine(4)|lung(2)	10						c.(316-318)Gag>Tag		succinate-CoA ligase, alpha subunit	Succinic acid(DB00139)						119.0	117.0	118.0					2																	84670410		2203	4300	6503	SO:0001587	stop_gained	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84670410C>A	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.316G>T	2.37:g.84670410C>A	ENSP00000377446:p.Glu106*						p.E106*	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN			3	526	-			106					Q9BWB0|Q9UNP6	Nonsense_Mutation	SNP	ENST00000393868.2	37	c.316G>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	38	6.800485	0.97849	.	.	ENSG00000163541	ENST00000393868	.	.	.	5.9	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.4728	12.7756	0.57445	0.0:0.9208:0.0:0.0792	.	.	.	.	X	106	.	ENSP00000377446:E106X	E	-	1	0	SUCLG1	84523921	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	1.506000	0.48736	0.650000	0.86243	GAG		0.453	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849		7	152	7	152	---	---	---	---
SLC9A2	6549	broad.mit.edu	37	2	103274259	103274259	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:103274259G>T	ENST00000233969.2	+	2	668	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	176					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGCTGTGGTAGGGACACTTTG	0.512																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(526-528)Ggg>Tgg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							323.0	306.0	312.0					2																	103274259		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103274259G>T		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.526G>T	2.37:g.103274259G>T	ENSP00000233969:p.Gly176Trp						p.G176W	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			2	668	+			176					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.526G>T	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.755251	0.89843	.	.	ENSG00000115616	ENST00000233969	T	0.19938	2.11	5.93	5.93	0.95920	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77686	-0.2495	10	0.87932	D	0	.	20.3507	0.98813	0.0:0.0:1.0:0.0	.	176	Q9UBY0	SL9A2_HUMAN	W	176	ENSP00000233969:G176W	ENSP00000233969:G176W	G	+	1	0	SLC9A2	102640691	1.000000	0.71417	0.830000	0.32933	0.915000	0.54546	9.860000	0.99555	2.808000	0.96608	0.655000	0.94253	GGG		0.512	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			9	334	9	334	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170139490	170139490	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:170139490C>A	ENST00000263816.3	-	10	1349	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	LRP2_ENST00000443831.1_Missense_Mutation_p.W355L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	355	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACAAATTCCCCATATCTGGCA	0.423																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(1063-1065)tGg>tTg		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						144.0	143.0	143.0					2																	170139490		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170139490C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.1064G>T	2.37:g.170139490C>A	ENSP00000263816:p.Trp355Leu					LRP2_ENST00000443831.1_Missense_Mutation_p.W355L	p.W355L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	10	1349	-			355			EGF-like 2.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.1064G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.111894	0.94339	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.94232	-2.52;-3.38	5.36	5.36	0.76844	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.94430	0.8208	L	0.28504	0.86	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	D	0.93515	0.6856	9	.	.	.	.	19.1006	0.93272	0.0:1.0:0.0:0.0	.	355;355	E9PC35;P98164	.;LRP2_HUMAN	L	355	ENSP00000263816:W355L;ENSP00000409813:W355L	.	W	-	2	0	LRP2	169847736	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.532000	0.81985	2.514000	0.84764	0.655000	0.94253	TGG		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		6	184	6	184	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196729546	196729546	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:196729546C>A	ENST00000312428.6	-	41	6933	c.6833G>T	c.(6832-6834)aGg>aTg	p.R2278M		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2278					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGTATCCTCCCTCTTGGGATC	0.378																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6832-6834)aGg>aTg		dynein, axonemal, heavy chain 7							192.0	179.0	183.0					2																	196729546		1894	4125	6019	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196729546C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6833G>T	2.37:g.196729546C>A	ENSP00000311273:p.Arg2278Met						p.R2278M	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	6933	-			2278					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6833G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586193	0.28268	.	.	ENSG00000118997	ENST00000312428	T	0.21932	1.98	5.09	3.3	0.37823	.	0.164928	0.52532	D	0.000067	T	0.24470	0.0593	L	0.57536	1.79	0.80722	D	1	B	0.26400	0.148	B	0.33392	0.163	T	0.05566	-1.0877	10	0.62326	D	0.03	.	10.9123	0.47116	0.0:0.847:0.0:0.153	.	2278	Q8WXX0	DYH7_HUMAN	M	2278	ENSP00000311273:R2278M	ENSP00000311273:R2278M	R	-	2	0	DNAH7	196437791	0.559000	0.26562	0.997000	0.53966	0.603000	0.37013	1.482000	0.35486	0.742000	0.32697	0.460000	0.39030	AGG		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		7	179	7	179	---	---	---	---
IGFBP5	3488	broad.mit.edu	37	2	217541551	217541551	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:217541551C>A	ENST00000233813.4	-	4	1491	c.742G>T	c.(742-744)Ggg>Tgg	p.G248W		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	248	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				cellular protein metabolic process (GO:0044267)|cellular response to cAMP (GO:0071320)|cellular response to organic cyclic compound (GO:0071407)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hair follicle morphogenesis (GO:0031069)|intracellular signal transduction (GO:0035556)|mammary gland involution (GO:0060056)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|striated muscle cell differentiation (GO:0051146)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|insulin-like growth factor binding protein complex (GO:0016942)	insulin-like growth factor I binding (GO:0031994)			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTTCATCCCGTACTTGTCC	0.617																																						ENST00000233813.4																			0				endometrium(1)|large_intestine(3)|lung(1)	5						c.(742-744)Ggg>Tgg		insulin-like growth factor binding protein 5							206.0	166.0	180.0					2																	217541551		2203	4300	6503	SO:0001583	missense	3488				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding	g.chr2:217541551C>A		CCDS2405.1	2q35	2014-09-16			ENSG00000115461	ENSG00000115461			5474	protein-coding gene	gene with protein product		146734				7511611	Standard	NM_000599		Approved		uc002vgj.4	P24593	OTTHUMG00000133058	ENST00000233813.4:c.742G>T	2.37:g.217541551C>A	ENSP00000233813:p.Gly248Trp						p.G248W	NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	4	1491	-		Renal(323;0.0822)	248			Thyroglobulin type-1.		Q5U0A3	Missense_Mutation	SNP	ENST00000233813.4	37	c.742G>T	CCDS2405.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380338	0.82682	.	.	ENSG00000115461	ENST00000233813	D	0.93547	-3.24	4.78	4.78	0.61160	Thyroglobulin type-1 (6);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99342	1.0912	10	0.87932	D	0	-3.7888	16.5399	0.84382	0.0:1.0:0.0:0.0	.	248	P24593	IBP5_HUMAN	W	248	ENSP00000233813:G248W	ENSP00000233813:G248W	G	-	1	0	IGFBP5	217249796	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	7.118000	0.77137	2.488000	0.83962	0.563000	0.77884	GGG		0.617	IGFBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256674.2	NM_000599		7	168	7	168	---	---	---	---
SERPINE2	5270	broad.mit.edu	37	2	224849668	224849668	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:224849668C>A	ENST00000258405.4	-	5	928		c.e5-1		SERPINE2_ENST00000409304.1_Splice_Site|SERPINE2_ENST00000409840.3_Splice_Site|SERPINE2_ENST00000447280.2_Splice_Site	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2						blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTTGTCGACCCTAAAGAAATC	0.493																																						ENST00000409840.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17						c.e6-1		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2							98.0	102.0	100.0					2																	224849668		2203	4300	6503	SO:0001630	splice_region_variant	5270				negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity	g.chr2:224849668C>A	M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.686-1G>T	2.37:g.224849668C>A						SERPINE2_ENST00000447280.2_Splice_Site|SERPINE2_ENST00000258405.4_Splice_Site|SERPINE2_ENST00000409304.1_Splice_Site				P07093	GDN_HUMAN		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)	6	1346	-		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)						B2R6A4|B4DIF2|Q53S15|Q5D0C4	Splice_Site	SNP	ENST00000258405.4	37		CCDS2460.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707312	0.68615	.	.	ENSG00000135919	ENST00000409304;ENST00000258405;ENST00000409840;ENST00000447280;ENST00000432738	.	.	.	5.97	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0507	0.71867	0.0:0.9323:0.0:0.0677	.	.	.	.	.	-1	.	.	.	-	.	.	SERPINE2	224557912	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.202000	0.77856	1.543000	0.49345	0.655000	0.94253	.		0.493	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256865.2	NM_006216	Intron	5	47	5	47	---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236792052	236792052	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:236792052C>A	ENST00000304032.8	+	10	1694	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	AGAP1_ENST00000336665.5_Missense_Mutation_p.L372M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L637M|AGAP1_ENST00000428334.2_Missense_Mutation_p.L211M	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	372	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATGTCACCCTGTGTGACAA	0.443																																						ENST00000304032.8																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1114-1116)Ctg>Atg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							133.0	118.0	123.0					2																	236792052		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236792052C>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1114C>A	2.37:g.236792052C>A	ENSP00000307634:p.Leu372Met					AGAP1_ENST00000428334.2_Missense_Mutation_p.L211M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L372M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L637M	p.L372M	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN			10	1694	+						PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.1114C>A	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.108580|4.108580	0.77096|0.77096	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000448025	T;T;T;T|.	0.59083|.	0.29;0.29;0.29;0.29|.	5.3|5.3	4.43|4.43	0.53597|0.53597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.74566|0.74566	0.3733|0.3733	M|M	0.84773|0.84773	2.715|2.715	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.87578|.	0.998;0.996|.	T|T	0.76302|0.76302	-0.3009|-0.3009	10|5	0.87932|.	D|.	0|.	.|.	9.4483|9.4483	0.38710|0.38710	0.0:0.8365:0.0:0.1635|0.0:0.8365:0.0:0.1635	.|.	372;372|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	M|H	372;372;637;211|5	ENSP00000307634:L372M;ENSP00000338378:L372M;ENSP00000386897:L637M;ENSP00000411824:L211M|.	ENSP00000307634:L372M|.	L|P	+|+	1|2	2|0	AGAP1|AGAP1	236456791|236456791	0.921000|0.921000	0.31238|0.31238	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.753000|1.753000	0.38359|0.38359	1.387000|1.387000	0.46486|0.46486	0.655000|0.655000	0.94253|0.94253	CTG|CCT		0.443	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		6	101	6	101	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238274668	238274668	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:238274668C>A	ENST00000295550.4	-	12	5963	c.5511G>T	c.(5509-5511)ctG>ctT	p.L1837L	COL6A3_ENST00000346358.4_Silent_p.L1637L|COL6A3_ENST00000472056.1_Silent_p.L1230L|COL6A3_ENST00000353578.4_Silent_p.L1631L|COL6A3_ENST00000347401.3_Silent_p.L1636L|COL6A3_ENST00000409809.1_Silent_p.L1631L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1837	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAATCACATCCAGATTACAAG	0.502																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5509-5511)ctG>ctT		collagen, type VI, alpha 3							46.0	47.0	47.0					2																	238274668		2187	4281	6468	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274668C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5511G>T	2.37:g.238274668C>A						COL6A3_ENST00000409809.1_Silent_p.L1631L|COL6A3_ENST00000472056.1_Silent_p.L1230L|COL6A3_ENST00000346358.4_Silent_p.L1637L|COL6A3_ENST00000353578.4_Silent_p.L1631L|COL6A3_ENST00000347401.3_Silent_p.L1636L	p.L1837L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	5963	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1837			Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.5511G>T	CCDS33412.1																																																																																				0.502	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	108	6	108	---	---	---	---
SRGAP3	9901	broad.mit.edu	37	3	9036052	9036052	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:9036052G>T	ENST00000383836.3	-	19	2810	c.2383C>A	c.(2383-2385)Cat>Aat	p.H795N	SRGAP3_ENST00000360413.3_Missense_Mutation_p.H771N	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	795					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		ATGTACTGATGGGGGATGAGT	0.562			T	RAF1	pilocytic astrocytoma																																	ENST00000383836.3				Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(6)	0				breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(2383-2385)Cat>Aat		SLIT-ROBO Rho GTPase activating protein 3							94.0	93.0	93.0					3																	9036052		2203	4300	6503	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9036052G>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2383C>A	3.37:g.9036052G>T	ENSP00000373347:p.His795Asn					SRGAP3_ENST00000360413.3_Missense_Mutation_p.H771N	p.H795N	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	19	2810	-			795					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2383C>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581903	0.86748	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.49139	0.79;0.79	4.96	4.96	0.65561	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.62720	0.2451	L	0.52126	1.63	0.80722	D	1	P;D	0.53312	0.908;0.959	P;D	0.65010	0.888;0.931	T	0.61569	-0.7036	10	0.44086	T	0.13	.	18.1538	0.89686	0.0:0.0:1.0:0.0	.	771;795	O43295-2;O43295	.;SRGP2_HUMAN	N	795;771	ENSP00000373347:H795N;ENSP00000353587:H771N	ENSP00000353587:H771N	H	-	1	0	SRGAP3	9011052	1.000000	0.71417	0.770000	0.31555	0.885000	0.51271	9.727000	0.98787	2.438000	0.82558	0.655000	0.94253	CAT		0.562	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3			5	95	5	95	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9512274	9512274	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:9512274C>A	ENST00000406341.1	+	18	3046	c.2856C>A	c.(2854-2856)ccC>ccA	p.P952P	SETD5_ENST00000402466.1_Silent_p.P854P|SETD5_ENST00000302463.6_Silent_p.P854P|SETD5_ENST00000402198.1_Silent_p.P952P|SETD5_ENST00000407969.1_Silent_p.P971P			Q9C0A6	SETD5_HUMAN	SET domain containing 5	952										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CCCTCGGACCCACTTCTGAGA	0.502																																						ENST00000402466.1																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2560-2562)ccC>ccA		SET domain containing 5							173.0	161.0	165.0					3																	9512274		1903	4135	6038	SO:0001819	synonymous_variant	55209							g.chr3:9512274C>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2856C>A	3.37:g.9512274C>A						SETD5_ENST00000302463.6_Silent_p.P854P|SETD5_ENST00000407969.1_Silent_p.P971P|SETD5_ENST00000406341.1_Silent_p.P952P|SETD5_ENST00000402198.1_Silent_p.P952P	p.P854P			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	20	3330	+	Medulloblastoma(99;0.227)		952					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.2562C>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	C	4.548	0.101790	0.08731	.	.	ENSG00000168137	ENST00000399686;ENST00000421188	.	.	.	5.09	3.29	0.37713	.	.	.	.	.	T	0.53045	0.1772	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	-4.9478	5.3683	0.16125	0.0:0.6225:0.0:0.3775	.	.	.	.	N	620;283	.	.	H	+	1	0	SETD5	9487274	0.350000	0.24878	0.521000	0.27850	0.733000	0.41908	0.398000	0.20899	1.137000	0.42214	0.585000	0.79938	CAC		0.502	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		6	148	6	148	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9781219	9781219	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:9781219C>A	ENST00000457855.1	+	2	1147	c.1136C>A	c.(1135-1137)cCa>cAa	p.P379Q	BRPF1_ENST00000424362.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.P379Q|BRPF1_ENST00000383829.2_Missense_Mutation_p.P379Q|BRPF1_ENST00000302054.3_Missense_Mutation_p.P379Q			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	379					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACATCCCACCAGCTCGCTGG	0.572																																						ENST00000383829.2																			0				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1135-1137)cCa>cAa		bromodomain and PHD finger containing, 1							133.0	136.0	135.0					3																	9781219		2203	4300	6503	SO:0001583	missense	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9781219C>A	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1136C>A	3.37:g.9781219C>A	ENSP00000410210:p.Pro379Gln					BRPF1_ENST00000302054.3_Missense_Mutation_p.P379Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000457855.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.P379Q	p.P379Q	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN			3	1540	+	Medulloblastoma(99;0.227)		379					B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	c.1136C>A	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.527078	0.85706	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.74974	0.3787	L	0.42632	1.34	0.80722	D	1	D;P;P;D	0.76494	0.999;0.858;0.746;0.999	D;P;P;D	0.81914	0.991;0.561;0.661;0.995	T	0.71331	-0.4625	10	0.42905	T	0.14	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	379;379;379;379	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	Q	379	ENSP00000402485:P379Q;ENSP00000398863:P379Q;ENSP00000373340:P379Q;ENSP00000306297:P379Q;ENSP00000410210:P379Q	ENSP00000306297:P379Q	P	+	2	0	BRPF1	9756219	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.487000	0.81328	2.884000	0.98904	0.655000	0.94253	CCA		0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		6	168	6	168	---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10443926	10443926	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:10443926C>A	ENST00000352432.4	-	3	573	c.504G>T	c.(502-504)acG>acT	p.T168T	ATP2B2_ENST00000360273.2_Silent_p.T168T|ATP2B2_ENST00000383800.4_Silent_p.T168T|ATP2B2_ENST00000397077.1_Silent_p.T168T|ATP2B2_ENST00000343816.4_Silent_p.T168T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	168					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATTGAAGGCCGTGACCAGGA	0.612																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(502-504)acG>acT		ATPase, Ca++ transporting, plasma membrane 2							124.0	134.0	131.0					3																	10443926		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10443926C>A	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.504G>T	3.37:g.10443926C>A						ATP2B2_ENST00000352432.4_Silent_p.T168T|ATP2B2_ENST00000383800.4_Silent_p.T168T|ATP2B2_ENST00000360273.2_Silent_p.T168T|ATP2B2_ENST00000343816.4_Silent_p.T168T	p.T168T			Q01814	AT2B2_HUMAN			6	1079	-			168					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.504G>T	CCDS33701.1																																																																																				0.612	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683		6	218	6	218	---	---	---	---
RTP3	83597	broad.mit.edu	37	3	46539657	46539657	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:46539657C>A	ENST00000296142.3	+	1	677	c.105C>A	c.(103-105)ccC>ccA	p.P35P		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	35					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		GCCTTCTTCCCAACGTCCTGA	0.532																																						ENST00000296142.3																			0				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(103-105)ccC>ccA		receptor (chemosensory) transporter protein 3							119.0	106.0	111.0					3																	46539657		2203	4300	6503	SO:0001819	synonymous_variant	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46539657C>A	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.105C>A	3.37:g.46539657C>A							p.P35P	NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	1	677	+			35					A2RRP6	Silent	SNP	ENST00000296142.3	37	c.105C>A	CCDS2740.1																																																																																				0.532	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		5	75	5	75	---	---	---	---
QARS	5859	broad.mit.edu	37	3	49136858	49136858	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:49136858C>A	ENST00000306125.6	-	17	1870	c.1533G>T	c.(1531-1533)tgG>tgT	p.W511C	QARS_ENST00000414533.1_Missense_Mutation_p.W500C|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	511					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTGGGTCATCCCAGTCCCTGT	0.577																																						ENST00000306125.6																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1531-1533)tgG>tgT		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						94.0	98.0	97.0					3																	49136858		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49136858C>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1533G>T	3.37:g.49136858C>A	ENSP00000307567:p.Trp511Cys					QARS_ENST00000414533.1_Missense_Mutation_p.W500C	p.W511C			P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	17	1870	-			511					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1533G>T	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450641	0.63290	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T;T	0.24538	1.85;1.85;1.85	6.06	6.06	0.98353	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74129	0.3676	H	0.99619	4.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85642	0.1277	10	0.87932	D	0	-12.3687	20.6244	0.99512	0.0:1.0:0.0:0.0	.	500;511	B4DWJ2;P47897	.;SYQ_HUMAN	C	31;511;500	ENSP00000396326:W31C;ENSP00000307567:W511C;ENSP00000390015:W500C	ENSP00000307567:W511C	W	-	3	0	QARS	49111862	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.264000	0.78432	2.879000	0.98667	0.650000	0.86243	TGG		0.577	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	NM_005051		6	94	6	94	---	---	---	---
IQCF1	132141	broad.mit.edu	37	3	51929026	51929026	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:51929026C>A	ENST00000310914.5	-	4	560	c.498G>T	c.(496-498)cgG>cgT	p.R166R		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	166										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGATGAACCCCCGGGAAGCAC	0.587																																						ENST00000310914.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12						c.(496-498)cgG>cgT		IQ motif containing F1							104.0	101.0	102.0					3																	51929026		2203	4300	6503	SO:0001819	synonymous_variant	132141							g.chr3:51929026C>A	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.498G>T	3.37:g.51929026C>A							p.R166R	NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	560	-			166					Q8N711	Silent	SNP	ENST00000310914.5	37	c.498G>T	CCDS2836.1																																																																																				0.587	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		7	177	7	177	---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58149009	58149009	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:58149009C>A	ENST00000295956.4	+	43	7315	c.7150C>A	c.(7150-7152)Cct>Act	p.P2384T	FLNB_ENST00000358537.3_Missense_Mutation_p.P2360T|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.P2343T|FLNB-AS1_ENST00000472922.1_RNA|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000429972.2_Missense_Mutation_p.P2373T|FLNB_ENST00000419752.2_Missense_Mutation_p.P2204T|FLNB_ENST00000490882.1_Missense_Mutation_p.P2415T|FLNB_ENST00000493452.1_Missense_Mutation_p.P2191T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2384	Interaction with INPPL1.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCGGGGAACCCTGCCCTGGT	0.587																																						ENST00000295956.4																			0				NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120						c.(7150-7152)Cct>Act		filamin B, beta							83.0	73.0	77.0					3																	58149009		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58149009C>A	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7150C>A	3.37:g.58149009C>A	ENSP00000295956:p.Pro2384Thr					FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.P2191T|FLNB_ENST00000419752.2_Missense_Mutation_p.P2204T|FLNB_ENST00000358537.3_Missense_Mutation_p.P2360T|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.P2415T|FLNB_ENST00000348383.5_Missense_Mutation_p.P2343T|FLNB_ENST00000429972.2_Missense_Mutation_p.P2373T	p.P2384T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	43	7315	+			2384			Interaction with INPPL1.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.7150C>A	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945878	0.73672	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.096122	0.64402	D	0.000001	D	0.94019	0.8084	M	0.82433	2.59	0.80722	D	1	B;D;B;D;P;B	0.64830	0.023;0.986;0.017;0.994;0.494;0.07	B;D;B;D;B;B	0.74023	0.038;0.916;0.106;0.982;0.297;0.093	D	0.94463	0.7678	10	0.72032	D	0.01	.	19.2174	0.93783	0.0:1.0:0.0:0.0	.	2360;2415;2191;2204;2373;2384	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	T	2384;2415;2360;2373;2343;2191;2204	ENSP00000295956:P2384T;ENSP00000420213:P2415T;ENSP00000351339:P2360T;ENSP00000415599:P2373T;ENSP00000232447:P2343T;ENSP00000418510:P2191T;ENSP00000414532:P2204T	ENSP00000295956:P2384T	P	+	1	0	FLNB	58124049	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.939000	0.56591	2.602000	0.87976	0.655000	0.94253	CCT		0.587	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		5	70	5	70	---	---	---	---
DNASE1L3	1776	broad.mit.edu	37	3	58196539	58196539	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:58196539C>A	ENST00000394549.2	-	1	411	c.95G>T	c.(94-96)gGg>gTg	p.G32V	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.G32V|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.G32V|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.G32V	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	32					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CTTGCTTTCCCCAAAGGACCT	0.587																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	ENST00000483681.1																			0				breast(2)|large_intestine(4)|lung(6)	12						c.(94-96)gGg>gTg		deoxyribonuclease I-like 3							230.0	206.0	214.0					3																	58196539		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58196539C>A	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.95G>T	3.37:g.58196539C>A	ENSP00000378053:p.Gly32Val					DNASE1L3_ENST00000318316.3_Missense_Mutation_p.G32V|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.G32V|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.G32V	p.G32V			Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	3	676	-			32					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.95G>T	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425311	0.83667	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000394549;ENST00000461914;ENST00000460422	T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3	5.49	5.49	0.81192	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000008	D	0.82476	0.5045	M	0.93939	3.475	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	0.86384	0.1731	10	0.87932	D	0	.	17.3319	0.87267	0.0:1.0:0.0:0.0	.	32;32;32	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	V	32	ENSP00000419052:G32V;ENSP00000316193:G32V;ENSP00000417047:G32V;ENSP00000378053:G32V;ENSP00000418113:G32V;ENSP00000418509:G32V	ENSP00000316193:G32V	G	-	2	0	DNASE1L3	58171579	1.000000	0.71417	0.967000	0.41034	0.934000	0.57294	5.468000	0.66743	2.865000	0.98341	0.655000	0.94253	GGG		0.587	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1	NM_004944		7	219	7	219	---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64601680	64601680	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:64601680C>A	ENST00000498707.1	-	20	3322	c.2980G>T	c.(2980-2982)Ggg>Tgg	p.G994W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G966W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	994	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTACATTCCCCTGAGCATTTT	0.483																																						ENST00000498707.1																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100						c.(2980-2982)Ggg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 9							205.0	199.0	201.0					3																	64601680		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64601680C>A	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2980G>T	3.37:g.64601680C>A	ENSP00000418735:p.Gly994Trp					ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G966W	p.G994W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	20	3322	-		Lung NSC(201;0.00682)	994			TSP type-1 3.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2980G>T	CCDS2903.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.322247|4.322247	0.81580|0.81580	.|.	.|.	ENSG00000163638|ENSG00000163638	ENST00000295903;ENST00000498707|ENST00000481060	T;T|.	0.61158|.	0.13;0.13|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77350|0.77350	0.4117|0.4117	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.998;0.998|.	T|T	0.78831|0.78831	-0.2049|-0.2049	10|5	0.87932|.	D|.	0|.	.|.	14.0201|14.0201	0.64547|0.64547	0.0:0.928:0.0:0.072|0.0:0.928:0.0:0.072	.|.	966;994;994;994|.	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4|.	.;.;.;ATS9_HUMAN|.	W|H	966;994|49	ENSP00000295903:G966W;ENSP00000418735:G994W|.	ENSP00000295903:G966W|.	G|Q	-|-	1|3	0|2	ADAMTS9|ADAMTS9	64576720|64576720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	5.691000|5.691000	0.68249|0.68249	2.676000|2.676000	0.91093|0.91093	0.561000|0.561000	0.74099|0.74099	GGG|CAG		0.483	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			8	304	8	304	---	---	---	---
NIT2	56954	broad.mit.edu	37	3	100059940	100059940	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:100059940G>T	ENST00000394140.4	+	4	362	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	91	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AGAGGATGCTGGGAAATTATA	0.373																																						ENST00000394140.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						c.(271-273)Ggg>Tgg		nitrilase family, member 2							132.0	123.0	126.0					3																	100059940		2203	4300	6503	SO:0001583	missense	56954				nitrogen compound metabolic process		omega-amidase activity	g.chr3:100059940G>T	AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.271G>T	3.37:g.100059940G>T	ENSP00000377696:p.Gly91Trp						p.G91W	NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN			4	362	+						CN hydrolase.		B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	c.271G>T	CCDS33806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.2|26.2	4.712516|4.712516	0.89112|0.89112	.|.	.|.	ENSG00000114021|ENSG00000114021	ENST00000394140|ENST00000497785	D|.	0.88354|.	-2.37|.	5.68|5.68	5.68|5.68	0.88126|0.88126	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);|.	0.045173|.	0.85682|.	D|.	0.000000|.	D|D	0.88470|0.88470	0.6445|0.6445	H|H	0.96048|0.96048	3.76|3.76	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.78314|.	0.991;0.982|.	D|D	0.91528|0.91528	0.5240|0.5240	10|5	0.87932|.	D|.	0|.	-0.6565|-0.6565	19.7978|19.7978	0.96492|0.96492	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	91;91|.	B7Z3F9;Q9NQR4|.	.;NIT2_HUMAN|.	W|L	91|184	ENSP00000377696:G91W|.	ENSP00000377696:G91W|.	G|W	+|+	1|2	0|0	NIT2|NIT2	101542630|101542630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.924000|8.924000	0.92827|0.92827	2.692000|2.692000	0.91855|0.91855	0.643000|0.643000	0.83706|0.83706	GGG|TGG		0.373	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202		4	41	4	41	---	---	---	---
ABI3BP	25890	broad.mit.edu	37	3	100489676	100489676	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:100489676G>T	ENST00000284322.5	-	29	2628	c.2519C>A	c.(2518-2520)cCa>cAa	p.P840Q	ABI3BP_ENST00000383691.4_Missense_Mutation_p.P794Q|ABI3BP_ENST00000471714.1_Missense_Mutation_p.P1542Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	840	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTGGTGGGTGGGTTCTGTGG	0.537																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(4624-4626)cCa>cAa		ABI family, member 3 (NESH) binding protein							212.0	225.0	221.0					3																	100489676		2019	4174	6193	SO:0001583	missense	25890					extracellular space		g.chr3:100489676G>T	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2519C>A	3.37:g.100489676G>T	ENSP00000284322:p.Pro840Gln					ABI3BP_ENST00000284322.5_Missense_Mutation_p.P840Q|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P794Q	p.P1542Q			Q7Z7G0	TARSH_HUMAN			61	4734	-			840					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.4625C>A	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.186408|5.186408	0.94885|0.94885	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000495591|ENST00000471714;ENST00000284322;ENST00000383692;ENST00000429331;ENST00000383691	.|T;T;T	.|0.58797	.|0.31;0.31;0.31	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.104323	.|0.64402	.|D	.|0.000002	T|T	0.80019|0.80019	0.4547|0.4547	M|M	0.83223|0.83223	2.63|2.63	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;0.992;0.999;1.0	.|D;D;D;D	.|0.97110	.|0.993;0.917;0.997;1.0	T|T	0.80979|0.80979	-0.1140|-0.1140	5|10	.|0.72032	.|D	.|0.01	-15.5142|-15.5142	20.4366|20.4366	0.99092|0.99092	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|794;840;1542;549	.|B4DSV9;Q7Z7G0;D3YTG3;D3YTD6	.|.;TARSH_HUMAN;.;.	N|Q	896|1542;840;549;251;794	.|ENSP00000420524:P1542Q;ENSP00000284322:P840Q;ENSP00000373189:P794Q	.|ENSP00000284322:P840Q	H|P	-|-	1|2	0|0	ABI3BP|ABI3BP	101972366|101972366	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.133000|9.133000	0.94460|0.94460	2.837000|2.837000	0.97791|0.97791	0.591000|0.591000	0.81541|0.81541	CAC|CCA		0.537	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			6	135	6	135	---	---	---	---
TIMMDC1	51300	broad.mit.edu	37	3	119217641	119217641	+	Silent	SNP	C	C	A	rs148112033		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:119217641C>A	ENST00000494664.1	+	1	263	c.61C>A	c.(61-63)Cga>Aga	p.R21R	RP11-190C22.8_ENST00000609598.1_lincRNA|TIMMDC1_ENST00000493694.1_Silent_p.R21R	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	21						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						CCTATTTCCCCGAGTCTTTGC	0.587																																						ENST00000494664.1																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						c.(61-63)Cga>Aga		translocase of inner mitochondrial membrane domain containing 1							125.0	134.0	131.0					3																	119217641		2203	4300	6503	SO:0001819	synonymous_variant	51300					integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr3:119217641C>A	AF210057	CCDS33831.1	3q13.33	2013-12-05	2011-07-05	2011-07-05	ENSG00000113845	ENSG00000113845			1321	protein-coding gene	gene with protein product		615534	"""chromosome 3 open reading frame 1"""	C3orf1		11092749	Standard	NM_016589		Approved	FLJ22597	uc003ecn.3	Q9NPL8	OTTHUMG00000159388	ENST00000494664.1:c.61C>A	3.37:g.119217641C>A						TIMMDC1_ENST00000493694.1_Silent_p.R21R	p.R21R	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN			1	263	+			21					D3DN81|Q6IAJ7|Q6UWU6|Q9NPR3|Q9NPS5|Q9P0Y6	Silent	SNP	ENST00000494664.1	37	c.61C>A	CCDS33831.1																																																																																				0.587	TIMMDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355077.3	NM_016589		7	233	7	233	---	---	---	---
HSPBAP1	79663	broad.mit.edu	37	3	122459555	122459555	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:122459555G>A	ENST00000306103.2	-	8	1247	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	368						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TACCTGTTTGGCCCACCTCCA	0.502																																						ENST00000306103.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16						c.(1102-1104)ggC>ggT		HSPB (heat shock 27kDa) associated protein 1							210.0	201.0	204.0					3																	122459555		2203	4300	6503	SO:0001819	synonymous_variant	79663					cytoplasm		g.chr3:122459555G>A	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1104C>T	3.37:g.122459555G>A						HSPBAP1_ENST00000383659.1_3'UTR	p.G368G	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1247	-			368					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Silent	SNP	ENST00000306103.2	37	c.1104C>T	CCDS3017.1																																																																																				0.502	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1	NM_024610		29	296	29	296	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124952115	124952115	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:124952115C>A	ENST00000360647.4	-	9	1940	c.1455G>T	c.(1453-1455)agG>agT	p.R485S	SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R485S|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.R485S|ZNF148_ENST00000492394.1_Missense_Mutation_p.R485S	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	485					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GCGCATATTCCCTGCTGTTGT	0.448																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(1453-1455)agG>agT		zinc finger protein 148							128.0	128.0	128.0					3																	124952115		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952115C>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1455G>T	3.37:g.124952115C>A	ENSP00000353863:p.Arg485Ser					ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R485S|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.R485S|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R485S	p.R485S	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	1940	-			485					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.1455G>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610971	0.28712	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.23	1.2	0.21068	.	0.000000	0.85682	D	0.000000	T	0.58764	0.2145	L	0.44542	1.39	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.53222	-0.8469	10	0.36615	T	0.2	-11.6517	9.9565	0.41671	0.0:0.6244:0.0:0.3756	.	485	Q9UQR1	ZN148_HUMAN	S	485	ENSP00000353863:R485S;ENSP00000420335:R485S;ENSP00000419322:R485S;ENSP00000420448:R485S	ENSP00000353863:R485S	R	-	3	2	ZNF148	126434805	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	0.466000	0.22019	0.365000	0.24400	0.655000	0.94253	AGG		0.448	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		7	172	7	172	---	---	---	---
MGLL	11343	broad.mit.edu	37	3	127540540	127540540	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:127540540G>T	ENST00000434178.2	-	2	1018	c.122C>A	c.(121-123)cCc>cAc	p.P41H	MGLL_ENST00000398104.1_Missense_Mutation_p.P41H|MGLL_ENST00000265052.5_Missense_Mutation_p.P51H|MGLL_ENST00000453507.2_Missense_Mutation_p.P51H			Q99685	MGLL_HUMAN	monoglyceride lipase	41					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GACTTACTTGGGTGTGCCTGT	0.602																																						ENST00000434178.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(121-123)cCc>cAc		monoglyceride lipase							76.0	81.0	79.0					3																	127540540		1933	4119	6052	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127540540G>T	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.122C>A	3.37:g.127540540G>T	ENSP00000402798:p.Pro41His					MGLL_ENST00000265052.5_Missense_Mutation_p.P51H|MGLL_ENST00000398104.1_Missense_Mutation_p.P41H|MGLL_ENST00000453507.2_Missense_Mutation_p.P51H	p.P41H			Q99685	MGLL_HUMAN			2	1018	-			41					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.122C>A	CCDS43148.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354124	0.61293	.	.	ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000536024;ENST00000453507;ENST00000494830	T;T;T;T	0.77877	-1.13;-1.13;-1.13;0.9	5.12	5.12	0.69794	.	0.119706	0.56097	D	0.000026	D	0.86251	0.5888	M	0.73962	2.25	0.45528	D	0.998485	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.78314	0.989;0.991;0.979;0.981	D	0.87302	0.2306	10	0.72032	D	0.01	.	11.2667	0.49114	0.084:0.0:0.916:0.0	.	51;41;41;51	B7Z9D1;B2ZGL7;Q99685;B3KRC2	.;.;MGLL_HUMAN;.	H	41;51;41;51;51;41	ENSP00000402798:P41H;ENSP00000265052:P51H;ENSP00000381176:P41H;ENSP00000417489:P41H	ENSP00000265052:P51H	P	-	2	0	MGLL	129023230	1.000000	0.71417	0.995000	0.50966	0.770000	0.43624	5.887000	0.69751	2.387000	0.81309	0.591000	0.81541	CCC		0.602	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	NM_007283		5	86	5	86	---	---	---	---
BFSP2	8419	broad.mit.edu	37	3	133119045	133119045	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:133119045C>A	ENST00000302334.2	+	1	207	c.118C>A	c.(118-120)Cca>Aca	p.P40T		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	40	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGAGAGCCCCCCAGCCTCCAG	0.652																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(118-120)Cca>Aca		beaded filament structural protein 2, phakinin							49.0	57.0	54.0					3																	133119045		2203	4300	6503	SO:0001583	missense	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133119045C>A	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.118C>A	3.37:g.133119045C>A	ENSP00000304987:p.Pro40Thr						p.P40T	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			1	207	+			40			Head.		Q14D32|Q9HBW5	Missense_Mutation	SNP	ENST00000302334.2	37	c.118C>A	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191604	0.38707	.	.	ENSG00000170819	ENST00000302334	D	0.82803	-1.65	5.63	3.57	0.40892	.	0.324210	0.26662	N	0.023160	T	0.70263	0.3204	L	0.57536	1.79	0.28962	N	0.889747	P	0.35077	0.483	B	0.27887	0.084	T	0.58375	-0.7647	10	0.10636	T	0.68	-10.4873	4.3247	0.11034	0.0:0.4115:0.3925:0.1961	.	40	Q13515	BFSP2_HUMAN	T	40	ENSP00000304987:P40T	ENSP00000304987:P40T	P	+	1	0	BFSP2	134601735	0.000000	0.05858	1.000000	0.80357	0.984000	0.73092	0.241000	0.18065	2.668000	0.90789	0.563000	0.77884	CCA		0.652	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			6	77	6	77	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154042043	154042043	+	Missense_Mutation	SNP	C	C	A	rs200451346		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:154042043C>A	ENST00000496811.1	-	1	243	c.163G>T	c.(163-165)Ggg>Tgg	p.G55W	DHX36_ENST00000329463.5_Missense_Mutation_p.G55W|DHX36_ENST00000308361.6_Missense_Mutation_p.G55W|DHX36_ENST00000544526.1_Missense_Mutation_p.G55W	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	55	Gly-rich.|RNA-binding; sufficient and required for recruitment to cytoplasmic stress granules.|RSM.|Sufficient and required for interaction with TERC 5'-end.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCAGGTGCCCGGGATGCCGG	0.647																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(163-165)Ggg>Tgg		DEAH (Asp-Glu-Ala-His) box polypeptide 36							59.0	67.0	64.0					3																	154042043		2203	4300	6503	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154042043C>A	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.163G>T	3.37:g.154042043C>A	ENSP00000417078:p.Gly55Trp					DHX36_ENST00000308361.6_Missense_Mutation_p.G55W|DHX36_ENST00000329463.5_Missense_Mutation_p.G55W|DHX36_ENST00000544526.1_Missense_Mutation_p.G55W	p.G55W	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	243	-			55			Gly-rich.		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.163G>T	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.707372	0.48412	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	D;D;D;D	0.98135	-4.74;-4.74;-4.74;-4.74	4.66	4.66	0.58398	.	0.306795	0.31082	N	0.008291	D	0.95541	0.8551	N	0.14661	0.345	0.24942	N	0.991841	D;D;D	0.59357	0.985;0.985;0.974	P;P;P	0.54706	0.759;0.759;0.579	D	0.90535	0.4498	10	0.72032	D	0.01	.	10.8822	0.46946	0.0:0.8096:0.1904:0.0	.	55;55;55	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	W	55	ENSP00000417078:G55W;ENSP00000309296:G55W;ENSP00000444247:G55W;ENSP00000330113:G55W	ENSP00000309296:G55W	G	-	1	0	DHX36	155524737	0.010000	0.17322	0.996000	0.52242	0.654000	0.38779	0.999000	0.29757	2.404000	0.81709	0.655000	0.94253	GGG		0.647	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		6	124	6	124	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	183059415	183059415	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:183059415C>A	ENST00000328913.3	-	4	576	c.279G>T	c.(277-279)gtG>gtT	p.V93V	MCF2L2_ENST00000447025.2_Silent_p.V93V|MCF2L2_ENST00000414362.2_Silent_p.V93V|MCF2L2_ENST00000473233.1_Silent_p.V93V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	93	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGGCAGCCTCCACACTGCAAA	0.483																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(277-279)gtG>gtT		MCF.2 cell line derived transforming sequence-like 2							88.0	80.0	83.0					3																	183059415		2203	4300	6503	SO:0001819	synonymous_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:183059415C>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.279G>T	3.37:g.183059415C>A						MCF2L2_ENST00000447025.2_Silent_p.V93V|MCF2L2_ENST00000414362.2_Silent_p.V93V|MCF2L2_ENST00000473233.1_Silent_p.V93V	p.V93V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		4	576	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		93			CRAL-TRIO.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	37	c.279G>T	CCDS3243.1																																																																																				0.483	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		4	39	4	39	---	---	---	---
SST	6750	broad.mit.edu	37	3	187386923	187386923	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:187386923G>T	ENST00000287641.3	-	2	388	c.281C>A	c.(280-282)cCg>cAg	p.P94Q		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	94					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hyperosmotic response (GO:0006972)|negative regulation of cell proliferation (GO:0008285)|regulation of cell migration (GO:0030334)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to heat (GO:0009408)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)	hormone activity (GO:0005179)			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Cysteamine(DB00847)	TGCCATAGCCGGGTTTGAGTT	0.488																																						ENST00000287641.3																			0				kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9						c.(280-282)cCg>cAg		somatostatin	Bromocriptine(DB01200)|Cysteamine(DB00847)						218.0	212.0	214.0					3																	187386923		2203	4300	6503	SO:0001583	missense	6750				digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	g.chr3:187386923G>T		CCDS3288.1	3q28	2013-02-28			ENSG00000157005	ENSG00000157005		"""Endogenous ligands"""	11329	protein-coding gene	gene with protein product	"""somatostatin-14"", ""somatostatin-28"", ""prepro-somatostatin"""	182450				6126875, 6142531	Standard	NM_001048		Approved	SMST	uc003frn.3	P61278	OTTHUMG00000156462	ENST00000287641.3:c.281C>A	3.37:g.187386923G>T	ENSP00000287641:p.Pro94Gln						p.P94Q	NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	2	388	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		94					B2R5G3|P01166	Missense_Mutation	SNP	ENST00000287641.3	37	c.281C>A	CCDS3288.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886472	0.72410	.	.	ENSG00000157005	ENST00000287641	T	0.34275	1.37	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.63307	0.2500	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64659	-0.6355	10	0.52906	T	0.07	-1.1961	18.402	0.90519	0.0:0.0:1.0:0.0	.	94	P61278	SMS_HUMAN	Q	94	ENSP00000287641:P94Q	ENSP00000287641:P94Q	P	-	2	0	SST	188869617	1.000000	0.71417	0.754000	0.31244	0.551000	0.35334	9.434000	0.97515	2.587000	0.87381	0.305000	0.20034	CCG		0.488	SST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344278.1	NM_001048		7	331	7	331	---	---	---	---
PAK2	5062	broad.mit.edu	37	3	196509570	196509570	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:196509570T>A	ENST00000327134.3	+	2	375	c.53T>A	c.(52-54)aTg>aAg	p.M18K	RNU6-42P_ENST00000384165.1_RNA	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	18					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTGTGCGAATGAGCAGCACC	0.443																																						ENST00000327134.3																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12						c.(52-54)aTg>aAg		p21 protein (Cdc42/Rac)-activated kinase 2							120.0	125.0	124.0					3																	196509570		2203	4300	6503	SO:0001583	missense	5062				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity	g.chr3:196509570T>A	U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.53T>A	3.37:g.196509570T>A	ENSP00000314067:p.Met18Lys						p.M18K	NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)	2	375	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		18					Q13154|Q6ISC3	Missense_Mutation	SNP	ENST00000327134.3	37	c.53T>A	CCDS3321.1	.	.	.	.	.	.	.	.	.	.	T	15.38	2.817561	0.50633	.	.	ENSG00000180370	ENST00000327134	T	0.68025	-0.3	5.21	5.21	0.72293	.	0.081660	0.85682	D	0.000000	T	0.59128	0.2171	L	0.44542	1.39	0.80722	D	1	B	0.22683	0.073	B	0.20184	0.028	T	0.55276	-0.8166	10	0.28530	T	0.3	.	15.084	0.72135	0.0:0.0:0.0:1.0	.	18	Q13177	PAK2_HUMAN	K	18	ENSP00000314067:M18K	ENSP00000314067:M18K	M	+	2	0	PAK2	197993967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.527000	0.60573	1.988000	0.58038	0.533000	0.62120	ATG		0.443	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340548.1	NM_002577		10	216	10	216	---	---	---	---
ZNF518B	85460	broad.mit.edu	37	4	10445720	10445720	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:10445720A>G	ENST00000326756.3	-	3	2671	c.2233T>C	c.(2233-2235)Tat>Cat	p.Y745H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	745					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTGTGGATATATTTGTTGA	0.468																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(2233-2235)Tat>Cat		zinc finger protein 518B							135.0	135.0	135.0					4																	10445720		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10445720A>G	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2233T>C	4.37:g.10445720A>G	ENSP00000317614:p.Tyr745His						p.Y745H	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	2671	-			745					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.2233T>C	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329747	0.41297	.	.	ENSG00000178163	ENST00000326756	T	0.01538	4.79	6.02	0.561	0.17285	.	0.968666	0.08477	N	0.940030	T	0.01421	0.0046	L	0.29908	0.895	0.09310	N	1	P	0.46395	0.877	B	0.41723	0.365	T	0.41413	-0.9510	10	0.17832	T	0.49	-5.9707	1.3504	0.02171	0.5063:0.1452:0.208:0.1406	.	745	Q9C0D4	Z518B_HUMAN	H	745	ENSP00000317614:Y745H	ENSP00000317614:Y745H	Y	-	1	0	ZNF518B	10054818	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.372000	0.20467	0.496000	0.27904	-0.256000	0.11100	TAT		0.468	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		27	112	27	112	---	---	---	---
BOD1L1	259282	broad.mit.edu	37	4	13616973	13616973	+	Silent	SNP	G	G	T	rs370421416		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:13616973G>T	ENST00000040738.5	-	3	657	c.522C>A	c.(520-522)ccC>ccA	p.P174P		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	174						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTCATCATCGGGAGCTGTGT	0.423																																						ENST00000040738.5																			0											c.(520-522)ccC>ccA		biorientation of chromosomes in cell division 1-like 1		G		1,4405	2.1+/-5.4	0,1,2202	265.0	259.0	261.0		522	-10.8	0.0	4		261	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BOD1L	NM_148894.2		0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154		174/3052	13616973	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13616973G>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.522C>A	4.37:g.13616973G>T							p.P174P	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			3	657	-			174					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.522C>A	CCDS3411.2																																																																																				0.423	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		7	266	7	266	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20255609	20255609	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:20255609C>A	ENST00000504154.1	+	1	423	c.171C>A	c.(169-171)acC>acA	p.T57T	SLIT2_ENST00000273739.5_Silent_p.T57T|SLIT2_ENST00000503823.1_Silent_p.T57T|SLIT2_ENST00000503837.1_Silent_p.T57T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	57					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.T57T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCCGCAACACCGAGAGACTGT	0.677																																						ENST00000504154.1																			1	Substitution - coding silent(1)	p.T57T(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(169-171)acC>acA		slit homolog 2 (Drosophila)							97.0	83.0	88.0					4																	20255609		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20255609C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.171C>A	4.37:g.20255609C>A						SLIT2_ENST00000273739.5_Silent_p.T57T|SLIT2_ENST00000503823.1_Silent_p.T57T|SLIT2_ENST00000503837.1_Silent_p.T57T	p.T57T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			1	423	+			57					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.171C>A	CCDS3426.1																																																																																				0.677	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	107	4	107	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	38119787	38119787	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:38119787C>A	ENST00000261439.4	+	17	3291	c.2936C>A	c.(2935-2937)cCg>cAg	p.P979Q	TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000407365.1_3'UTR	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	979	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCACAGTTCCCGCTGGGATTC	0.527																																						ENST00000261439.4																			0				NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						c.(2935-2937)cCg>cAg		TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1							129.0	126.0	127.0					4																	38119787		2203	4300	6503	SO:0001583	missense	23216					nucleus	Rab GTPase activator activity	g.chr4:38119787C>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.2936C>A	4.37:g.38119787C>A	ENSP00000261439:p.Pro979Gln					TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Intron	p.P979Q	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN			17	3291	+			979			Rab-GAP TBC.		B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.2936C>A	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	C	32	5.113046	0.94339	.	.	ENSG00000065882	ENST00000261439;ENST00000454732	T	0.32272	1.46	5.7	5.7	0.88788	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000011	T	0.68430	0.3000	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76761	-0.2840	10	0.87932	D	0	-21.535	19.8471	0.96713	0.0:1.0:0.0:0.0	.	711;979	Q6PJJ8;Q86TI0	.;TBCD1_HUMAN	Q	979;243	ENSP00000261439:P979Q	ENSP00000261439:P979Q	P	+	2	0	TBC1D1	37796182	1.000000	0.71417	0.963000	0.40424	0.983000	0.72400	7.333000	0.79214	2.688000	0.91661	0.655000	0.94253	CCG		0.527	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		5	159	5	159	---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103528395	103528395	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:103528395G>T	ENST00000505458.1	+	18	2317	c.2040G>T	c.(2038-2040)caG>caT	p.Q680H	NFKB1_ENST00000600343.1_Missense_Mutation_p.Q500H|NFKB1_ENST00000394820.4_Missense_Mutation_p.Q680H|NFKB1_ENST00000226574.4_Missense_Mutation_p.Q681H			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	680	Essential for interaction with HIF1AN.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TCAATGCTCAGGAGCAGAAGT	0.567																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(2041-2043)caG>caT		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						91.0	89.0	89.0					4																	103528395		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103528395G>T	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2040G>T	4.37:g.103528395G>T	ENSP00000424790:p.Gln680His					NFKB1_ENST00000505458.1_Missense_Mutation_p.Q680H|NFKB1_ENST00000600343.1_Missense_Mutation_p.Q500H|NFKB1_ENST00000394820.4_Missense_Mutation_p.Q680H	p.Q681H	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	18	2510	+		Hepatocellular(203;0.217)	680			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.2043G>T	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.426135	0.62733	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.65732	-0.17;-0.17;-0.17	4.71	2.93	0.34026	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000001	T	0.70037	0.3178	L	0.56124	1.755	0.44555	D	0.997517	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.999;0.999;0.983	T	0.67639	-0.5619	10	0.59425	D	0.04	.	6.5585	0.22474	0.1583:0.1488:0.6929:0.0	.	500;680;681	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	H	681;680;680	ENSP00000226574:Q681H;ENSP00000378297:Q680H;ENSP00000424790:Q680H	ENSP00000226574:Q681H	Q	+	3	2	NFKB1	103747433	1.000000	0.71417	0.998000	0.56505	0.939000	0.58152	0.716000	0.25836	0.486000	0.27676	0.655000	0.94253	CAG		0.567	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			6	115	6	115	---	---	---	---
TBCK	93627	broad.mit.edu	37	4	107092337	107092337	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:107092337G>T	ENST00000273980.5	-	24	2597	c.2150C>A	c.(2149-2151)cCa>cAa	p.P717Q	TBCK_ENST00000361687.4_Missense_Mutation_p.P654Q|TBCK_ENST00000432496.2_Missense_Mutation_p.P717Q|TBCK_ENST00000394708.2_Missense_Mutation_p.P717Q|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000394706.3_Missense_Mutation_p.P678Q					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						AGATGGCTTTGGAGGTTGAGC	0.443																																						ENST00000273980.5																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(2149-2151)cCa>cAa		TBC1 domain containing kinase							148.0	146.0	146.0					4																	107092337		2203	4300	6503	SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107092337G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.2150C>A	4.37:g.107092337G>T	ENSP00000273980:p.Pro717Gln					TBCK_ENST00000361687.4_Missense_Mutation_p.P654Q|TBCK_ENST00000394706.3_Missense_Mutation_p.P678Q|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Missense_Mutation_p.P717Q|TBCK_ENST00000394708.2_Missense_Mutation_p.P717Q	p.P717Q			Q8TEA7	TBCK_HUMAN			24	2597	-									Missense_Mutation	SNP	ENST00000273980.5	37	c.2150C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120892	0.37436	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.64991	-0.08;-0.08;3.76;-0.13;-0.08	4.99	4.99	0.66335	.	0.259629	0.38778	N	0.001570	T	0.64670	0.2619	L	0.46157	1.445	0.43226	D	0.995111	B;P;B	0.48089	0.001;0.905;0.001	B;P;B	0.50970	0.004;0.655;0.009	T	0.58962	-0.7543	10	0.17369	T	0.5	.	17.4038	0.87468	0.0:0.0:1.0:0.0	.	717;678;654	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	Q	717;717;654;678;717	ENSP00000273980:P717Q;ENSP00000405847:P717Q;ENSP00000355338:P654Q;ENSP00000378196:P678Q;ENSP00000378198:P717Q	ENSP00000273980:P717Q	P	-	2	0	TBCK	107311786	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	4.828000	0.62730	2.473000	0.83533	0.585000	0.79938	CCA		0.443	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		6	128	6	128	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114275162	114275162	+	Silent	SNP	C	C	T	rs374140329		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:114275162C>T	ENST00000357077.4	+	38	5441	c.5388C>T	c.(5386-5388)gaC>gaT	p.D1796D	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1796					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAGGAGGACGTGCCAAAAA	0.517																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(5386-5388)gaC>gaT		ankyrin 2, neuronal		C	,,	0,4406		0,0,2203	109.0	120.0	117.0		,5388,	-5.6	0.8	4		117	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous,intron	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,1796/3958,	114275162	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114275162C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5388C>T	4.37:g.114275162C>T						ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	p.D1796D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	5441	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1763			Repeat-rich region.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.5388C>T	CCDS3702.1																																																																																				0.517	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		22	130	22	130	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123179972	123179972	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:123179972C>A	ENST00000264501.4	+	42	7109	c.6736C>A	c.(6736-6738)Cat>Aat	p.H2246N	KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2246N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2246N			Q2LD37	K1109_HUMAN	KIAA1109	2246					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AACTCATACCCATAGTGACTC	0.363																																						ENST00000264501.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(6736-6738)Cat>Aat		KIAA1109							88.0	83.0	84.0					4																	123179972		1834	4091	5925	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123179972C>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.6736C>A	4.37:g.123179972C>A	ENSP00000264501:p.His2246Asn					KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2246N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2246N	p.H2246N			Q2LD37	K1109_HUMAN			42	7109	+			2246					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.6736C>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.467866|4.467866	0.84533|0.84533	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000419325	T;T;T|.	0.24723|.	2.47;2.47;1.84|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.000000|.	0.52532|.	U|.	0.000069|.	T|T	0.57519|0.57519	0.2059|0.2059	N|N	0.24115|0.24115	0.695|0.695	0.51482|0.51482	D|D	0.999922|0.999922	P;P;P|.	0.42827|.	0.718;0.578;0.791|.	B;B;B|.	0.41271|.	0.199;0.352;0.259|.	T|T	0.49173|0.49173	-0.8967|-0.8967	10|5	0.29301|.	T|.	0.29|.	.|.	20.394|20.394	0.98981|0.98981	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2246;2245;2246|.	Q2LD37-6;Q2LD37-2;Q2LD37|.	.;.;K1109_HUMAN|.	N|Q	2246|203	ENSP00000264501:H2246N;ENSP00000373390:H2246N;ENSP00000389925:H2246N|.	ENSP00000264501:H2246N|.	H|P	+|+	1|2	0|0	KIAA1109|KIAA1109	123399422|123399422	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	7.424000|7.424000	0.80242|0.80242	2.830000|2.830000	0.97506|0.97506	0.585000|0.585000	0.79938|0.79938	CAT|CCA		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		4	39	4	39	---	---	---	---
INTU	27152	broad.mit.edu	37	4	128626838	128626838	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:128626838A>G	ENST00000335251.6	+	11	1762	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	553					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TAGCAGCAAAACAAAGAATTG	0.438																																						ENST00000335251.6																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						c.(1657-1659)aaA>aaG		inturned planar cell polarity protein							180.0	165.0	170.0					4																	128626838		2203	4300	6503	SO:0001819	synonymous_variant	27152							g.chr4:128626838A>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1659A>G	4.37:g.128626838A>G						INTU_ENST00000512995.1_3'UTR	p.K553K	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN			11	1762	+								A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Silent	SNP	ENST00000335251.6	37	c.1659A>G	CCDS34061.1																																																																																				0.438	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707		25	127	25	127	---	---	---	---
GUCY1A3	2982	broad.mit.edu	37	4	156643199	156643199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:156643199G>T	ENST00000296518.7	+	9	1935	c.1726G>T	c.(1726-1728)Gga>Tga	p.G576*	GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.G318*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.G576*			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	576	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GATGCGAATTGGACTGCACTC	0.403																																						ENST00000296518.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1726-1728)Gga>Tga		guanylate cyclase 1, soluble, alpha 3							274.0	262.0	266.0					4																	156643199		2203	4300	6503	SO:0001587	stop_gained	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156643199G>T		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1726G>T	4.37:g.156643199G>T	ENSP00000296518:p.Gly576*					GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.G318*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.G576*	p.G576*			Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	9	1935	+	all_hematologic(180;0.24)	Renal(120;0.0854)	576			Guanylate cyclase.		D3DP19|D6RDW3|O43843|Q8TAH3	Nonsense_Mutation	SNP	ENST00000296518.7	37	c.1726G>T	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	43	10.124953	0.99342	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	.	.	.	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0945	0.97833	0.0:0.0:1.0:0.0	.	.	.	.	X	576;576;576;576;318;576;576	.	ENSP00000296518:G576X	G	+	1	0	GUCY1A3	156862649	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.752000	0.94435	0.585000	0.79938	GGA		0.403	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			7	236	7	236	---	---	---	---
GALNTL6	442117	broad.mit.edu	37	4	173734829	173734829	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:173734829C>A	ENST00000506823.1	+	7	1535	c.878C>A	c.(877-879)cCc>cAc	p.P293H	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P276H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	293					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AAAAGAATCCCCATCCCTCCA	0.557																																						ENST00000506823.1																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						c.(877-879)cCc>cAc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6							80.0	77.0	78.0					4																	173734829		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173734829C>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.878C>A	4.37:g.173734829C>A	ENSP00000423313:p.Pro293His					GALNTL6_ENST00000508122.1_Missense_Mutation_p.P276H	p.P293H	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN			7	1535	+			293					Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.878C>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.432039	0.83776	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.61158	0.13;0.13	5.97	5.97	0.96955	Glycosyl transferase, family 2 (1);	0.000000	0.64402	D	0.000001	T	0.78792	0.4339	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79237	-0.1886	10	0.72032	D	0.01	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	293	Q49A17	GLTL6_HUMAN	H	293;276	ENSP00000423313:P293H;ENSP00000423827:P276H	ENSP00000423313:P293H	P	+	2	0	GALNTL6	173971404	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.596000	0.82721	2.836000	0.97738	0.655000	0.94253	CCC		0.557	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		6	52	6	52	---	---	---	---
WDR17	116966	broad.mit.edu	37	4	177052766	177052766	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:177052766C>A	ENST00000280190.4	+	8	1203	c.1047C>A	c.(1045-1047)ccC>ccA	p.P349P	WDR17_ENST00000507824.2_Silent_p.P332P|WDR17_ENST00000393643.2_Silent_p.P325P|WDR17_ENST00000508596.1_Silent_p.P325P			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	349										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGTTCCACCCCCAACTTTAA	0.388																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(973-975)ccC>ccA		WD repeat domain 17							249.0	243.0	245.0					4																	177052766		2203	4300	6503	SO:0001819	synonymous_variant	116966							g.chr4:177052766C>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1047C>A	4.37:g.177052766C>A						WDR17_ENST00000507824.2_Silent_p.P332P|WDR17_ENST00000280190.4_Silent_p.P349P|WDR17_ENST00000508596.1_Silent_p.P325P	p.P325P	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	7	1227	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	349					E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.975C>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134168	0.01742	.	.	ENSG00000150627	ENST00000505894	.	.	.	5.44	-1.92	0.07618	.	0.112572	0.64402	D	0.000009	T	0.46425	0.1392	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35599	-0.9782	6	0.51188	T	0.08	-4.8028	2.1223	0.03729	0.105:0.2667:0.3099:0.3185	.	.	.	.	H	98	.	ENSP00000426847:P98H	P	+	2	0	WDR17	177289760	0.001000	0.12720	0.286000	0.24833	0.028000	0.11728	-1.861000	0.01654	-0.413000	0.07507	-0.781000	0.03364	CCC		0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			8	179	8	179	---	---	---	---
NIPBL	25836	broad.mit.edu	37	5	37020937	37020937	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:37020937C>A	ENST00000282516.8	+	27	5785	c.5286C>A	c.(5284-5286)tcC>tcA	p.S1762S	NIPBL_ENST00000448238.2_Silent_p.S1762S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1762					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACTTGGCCTCCATGAGGCCGT	0.348																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(5284-5286)tcC>tcA		Nipped-B homolog (Drosophila)							212.0	207.0	209.0					5																	37020937		2203	4300	6503	SO:0001819	synonymous_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37020937C>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.5286C>A	5.37:g.37020937C>A						NIPBL_ENST00000448238.2_Silent_p.S1762S	p.S1762S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		27	5785	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		1762					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	c.5286C>A	CCDS3920.1																																																																																				0.348	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		7	250	7	250	---	---	---	---
C9	735	broad.mit.edu	37	5	39311238	39311238	+	Splice_Site	SNP	C	C	T	rs544567518		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:39311238C>T	ENST00000263408.4	-	7	1207		c.e7+1			NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTAGGCATACCTTTCCGCTT	0.368																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.e7+1		complement component 9							98.0	99.0	99.0					5																	39311238		2203	4299	6502	SO:0001630	splice_region_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39311238C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1111+1G>A	5.37:g.39311238C>T								NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		7	1207	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)							Splice_Site	SNP	ENST00000263408.4	37		CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298714	0.40694	.	.	ENSG00000113600	ENST00000263408	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7592	0.88460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C9	39346995	1.000000	0.71417	0.978000	0.43139	0.111000	0.19643	6.243000	0.72384	2.721000	0.93114	0.655000	0.94253	.		0.368	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3		Intron	17	45	17	45	---	---	---	---
FBXO4	26272	broad.mit.edu	37	5	41939622	41939622	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:41939622G>T	ENST00000281623.3	+	6	1034	c.978G>T	c.(976-978)ttG>ttT	p.L326F	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	326					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GACCATTGTTGGTTTTATCTT	0.393																																						ENST00000281623.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(976-978)ttG>ttT		F-box protein 4							172.0	179.0	176.0					5																	41939622		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41939622G>T	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.978G>T	5.37:g.41939622G>T	ENSP00000281623:p.Leu326Phe					FBXO4_ENST00000509134.1_Intron	p.L326F	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN			6	1034	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	326					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.978G>T	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442189	0.63067	.	.	ENSG00000151876	ENST00000281623	T	0.55052	0.54	5.29	1.38	0.22167	.	0.000000	0.64402	D	0.000001	T	0.60971	0.2310	L	0.52573	1.65	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	T	0.59112	-0.7515	10	0.87932	D	0	-10.3918	7.2066	0.25911	0.2586:0.0:0.6283:0.1131	.	326	Q9UKT5	FBX4_HUMAN	F	326	ENSP00000281623:L326F	ENSP00000281623:L326F	L	+	3	2	FBXO4	41975379	0.991000	0.36638	0.999000	0.59377	0.986000	0.74619	0.054000	0.14205	0.302000	0.22762	0.561000	0.74099	TTG		0.393	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			7	134	7	134	---	---	---	---
FGF10	2255	broad.mit.edu	37	5	44388499	44388499	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:44388499C>A	ENST00000264664.4	-	1	400	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	RP11-473L15.2_ENST00000502457.1_RNA	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	96					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					CTGACCTTCCCGTTCTTCTCA	0.532																																						ENST00000264664.4																			0				haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13						c.(286-288)Ggg>Tgg		fibroblast growth factor 10							138.0	147.0	144.0					5																	44388499		2203	4300	6503	SO:0001583	missense	2255				actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding	g.chr5:44388499C>A		CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.286G>T	5.37:g.44388499C>A	ENSP00000264664:p.Gly96Trp						p.G96W	NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN			1	400	-	Lung NSC(6;1.12e-06)		96					C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Missense_Mutation	SNP	ENST00000264664.4	37	c.286G>T	CCDS3950.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.855349	0.71719	.	.	ENSG00000070193	ENST00000264664	D	0.94376	-3.41	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98985	1.0806	10	0.87932	D	0	.	18.2278	0.89924	0.0:1.0:0.0:0.0	.	96	O15520	FGF10_HUMAN	W	96	ENSP00000264664:G96W	ENSP00000264664:G96W	G	-	1	0	FGF10	44424256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.612000	0.82975	2.383000	0.81215	0.561000	0.74099	GGG		0.532	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253845.2	NM_004465		6	90	6	90	---	---	---	---
SPATA9	83890	broad.mit.edu	37	5	95018262	95018262	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:95018262G>T	ENST00000274432.8	-	2	261	c.120C>A	c.(118-120)ccC>ccA	p.P40P	SPATA9_ENST00000477047.2_5'UTR|SPATA9_ENST00000395899.3_Silent_p.P40P|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	40					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		TTAGGATGGTGGGAAATTCAT	0.308																																						ENST00000274432.8																			0				large_intestine(3)|lung(4)	7						c.(118-120)ccC>ccA		spermatogenesis associated 9							95.0	98.0	97.0					5																	95018262		2203	4300	6503	SO:0001819	synonymous_variant	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:95018262G>T	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.120C>A	5.37:g.95018262G>T						RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Silent_p.P40P|SPATA9_ENST00000477047.2_5'UTR	p.P40P	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	2	261	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	40					A8K8H3|Q4G122|Q86X33|Q8NA28	Silent	SNP	ENST00000274432.8	37	c.120C>A	CCDS4076.1																																																																																				0.308	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		6	93	6	93	---	---	---	---
RIOK2	55781	broad.mit.edu	37	5	96518937	96518937	+	5'UTR	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:96518937C>A	ENST00000283109.3	-	0	27				RIOK2_ENST00000508447.1_5'Flank|RP11-155G15.2_ENST00000504578.1_RNA|CTD-2215E18.1_ENST00000509481.1_Silent_p.A86A	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CGACGACAGCCGCAAAGCGTA	0.557																																						ENST00000509481.1																			0				urinary_tract(1)	1						c.(256-258)gcC>gcA									56.0	57.0	56.0					5																	96518937		2203	4299	6502	SO:0001623	5_prime_UTR_variant	55781							g.chr5:96518937C>A	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.-42G>T	5.37:g.96518937C>A						RIOK2_ENST00000283109.3_5'UTR	p.A86A							4	799	+								D6RDI3|Q9NUT0	Silent	SNP	ENST00000283109.3	37	c.258C>A	CCDS4089.1																																																																																				0.557	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		4	90	4	90	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	124036819	124036819	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:124036819C>A	ENST00000306315.5	-	2	1485	c.1050G>T	c.(1048-1050)gtG>gtT	p.V350V	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	350							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TATTGACACCCACAGAACGAG	0.512																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1048-1050)gtG>gtT		zinc finger protein 608							144.0	130.0	135.0					5																	124036819		2203	4300	6503	SO:0001819	synonymous_variant	57507					intracellular	zinc ion binding	g.chr5:124036819C>A	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1050G>T	5.37:g.124036819C>A						ZNF608_ENST00000504926.1_5'UTR	p.V350V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	2	1485	-		all_cancers(142;0.186)|Prostate(80;0.081)	350					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Silent	SNP	ENST00000306315.5	37	c.1050G>T	CCDS34219.1																																																																																				0.512	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		5	82	5	82	---	---	---	---
C5orf56	441108	broad.mit.edu	37	5	131796342	131796342	+	Silent	SNP	C	C	A	rs140600303	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:131796342C>A	ENST00000337752.2	+	4	308	c.177C>A	c.(175-177)ccC>ccA	p.P59P	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	59								p.P59P(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ctgccttccccgtggagtaca	0.483																																						ENST00000337752.2																			1	Substitution - coding silent(1)	p.P59P(1)	lung(1)	breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						c.(175-177)ccC>ccA		chromosome 5 open reading frame 56							179.0	157.0	165.0					5																	131796342		2203	4300	6503	SO:0001819	synonymous_variant	441108							g.chr5:131796342C>A	BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.177C>A	5.37:g.131796342C>A						C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron	p.P59P			Q8N8D9	CE056_HUMAN			4	308	+			59					A1L3V9|A6NKA0	Silent	SNP	ENST00000337752.2	37	c.177C>A																																																																																					0.483	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000132329.1	NM_001013717		6	218	6	218	---	---	---	---
SEPT8	23176	broad.mit.edu	37	5	132098260	132098260	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:132098260C>A	ENST00000378719.2	-	5	849	c.612G>T	c.(610-612)atG>atT	p.M204I	SEPT8_ENST00000378701.1_Missense_Mutation_p.M202I|SEPT8_ENST00000378721.4_Missense_Mutation_p.M202I|SEPT8_ENST00000378706.1_Missense_Mutation_p.M204I|SEPT8_ENST00000458488.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378699.2_Missense_Mutation_p.M144I|SEPT8_ENST00000448933.1_Missense_Mutation_p.M144I|SEPT8_ENST00000296873.7_Missense_Mutation_p.M204I|SEPT8_ENST00000481030.1_5'Flank	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	204	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAACTCGCCCATGATCTTGA	0.532																																						ENST00000296873.7																		SEPT8/AFF4(2)	0				kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11						c.(610-612)atG>atT		septin 8							132.0	132.0	132.0					5																	132098260		2120	4256	6376	SO:0001583	missense	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132098260C>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.612G>T	5.37:g.132098260C>A	ENSP00000367991:p.Met204Ile					SEPT8_ENST00000378699.2_Missense_Mutation_p.M144I|SEPT8_ENST00000448933.1_Missense_Mutation_p.M144I|SEPT8_ENST00000378701.1_Missense_Mutation_p.M202I|SEPT8_ENST00000378719.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378721.4_Missense_Mutation_p.M202I|SEPT8_ENST00000458488.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378706.1_Missense_Mutation_p.M204I	p.M204I	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	895	-		all_cancers(142;0.0751)|Breast(839;0.198)	204					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Missense_Mutation	SNP	ENST00000378719.2	37	c.612G>T	CCDS43358.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442556	0.83993	.	.	ENSG00000164402	ENST00000378719;ENST00000378721;ENST00000296873;ENST00000448933;ENST00000378706;ENST00000378699;ENST00000378701;ENST00000458488	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.98	5.98	0.97165	.	0.039342	0.85682	D	0.000000	T	0.56819	0.2011	M	0.66439	2.03	0.80722	D	1	D;D;B;D	0.65815	0.995;0.995;0.304;0.995	D;D;B;D	0.77004	0.989;0.989;0.214;0.989	T	0.47302	-0.9128	10	0.40728	T	0.16	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	202;202;204;204	B7ZVZ1;A6NFQ9;F6W7K9;Q92599	.;.;.;SEPT8_HUMAN	I	204;202;204;144;204;144;202;204	ENSP00000367991:M204I;ENSP00000367993:M202I;ENSP00000296873:M204I;ENSP00000399840:M144I;ENSP00000367978:M204I;ENSP00000367971:M144I;ENSP00000367973:M202I;ENSP00000394766:M204I	ENSP00000296873:M204I	M	-	3	0	SEPT8	132126159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.837000	0.97791	0.591000	0.81541	ATG		0.532	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		5	98	5	98	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137722057	137722057	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:137722057G>T	ENST00000314358.5	+	7	1327	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	KDM3B_ENST00000394866.1_Missense_Mutation_p.G32V|KDM3B_ENST00000542866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	376					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCTGTAGGTGGGGACACACCT	0.522																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(1126-1128)gGg>gTg		lysine (K)-specific demethylase 3B							174.0	187.0	182.0					5																	137722057		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137722057G>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1127G>T	5.37:g.137722057G>T	ENSP00000326563:p.Gly376Val					KDM3B_ENST00000394866.1_Missense_Mutation_p.G32V	p.G376V	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN			7	1327	+			376					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1127G>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923704	0.52653	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.71341	0.09;-0.56	5.6	4.72	0.59763	.	0.160839	0.43416	D	0.000565	T	0.50735	0.1633	N	0.19112	0.55	0.80722	D	1	P;P	0.44578	0.828;0.838	B;B	0.39531	0.302;0.296	T	0.46762	-0.9168	10	0.15499	T	0.54	-29.4253	10.1798	0.42961	0.149:0.0:0.851:0.0	.	32;376	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	V	376;166;32	ENSP00000326563:G376V;ENSP00000378335:G32V	ENSP00000326563:G376V	G	+	2	0	KDM3B	137749956	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.605000	0.54088	2.619000	0.88677	0.563000	0.77884	GGG		0.522	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		11	285	11	285	---	---	---	---
CD14	929	broad.mit.edu	37	5	140011612	140011612	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:140011612G>T	ENST00000302014.6	-	2	1586	c.957C>A	c.(955-957)ccC>ccA	p.P319P	CD14_ENST00000401743.2_Silent_p.P319P	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	319					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATCCACCTCGGGCAGCTCGT	0.627																																						ENST00000302014.6																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(955-957)ccC>ccA		CD14 molecule							42.0	44.0	43.0					5																	140011612		2203	4300	6503	SO:0001819	synonymous_variant	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140011612G>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.957C>A	5.37:g.140011612G>T						CD14_ENST00000401743.2_Silent_p.P319P	p.P319P	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1586	-			319					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	c.957C>A	CCDS4232.1																																																																																				0.627	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591		4	43	4	43	---	---	---	---
PCDHGC3	5098	broad.mit.edu	37	5	140857427	140857427	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:140857427C>A	ENST00000308177.3	+	1	1848	c.1744C>A	c.(1744-1746)Cga>Aga	p.R582R	PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|RN7SL68P_ENST00000488078.2_RNA|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1	Q9UN70	PCDGK_HUMAN	protocadherin gamma subfamily C, 3	582	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCTGCCTCGAGGTACCTC	0.582											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000308177.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29						c.(1744-1746)Cga>Aga									49.0	54.0	52.0					5																	140857427		2203	4300	6503	SO:0001819	synonymous_variant	5098							g.chr5:140857427C>A	AF152337	CCDS4261.1, CCDS75347.1, CCDS75348.1	5q31	2010-01-26			ENSG00000240184	ENSG00000240184		"""Cadherins / Protocadherins : Clustered"""	8716	other	protocadherin	"""cadherin-like 2"", ""protocadherin 2"", ""protocadherin 43"""	603627		PCDH2		9360932, 8508762	Standard	NM_032402		Approved	PC-43, PC43, PCDH-GAMMA-C3		Q9UN70	OTTHUMG00000129613	ENST00000308177.3:c.1744C>A	5.37:g.140857427C>A			OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1659	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron	p.R582R	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1848	+								O60622|Q08192|Q9Y5C4	Silent	SNP	ENST00000308177.3	37	c.1744C>A	CCDS4261.1																																																																																				0.582	PCDHGC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251808.2	NM_002588		4	54	4	54	---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146773669	146773669	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:146773669C>A	ENST00000398514.3	-	14	2013	c.1642G>T	c.(1642-1644)Ggg>Tgg	p.G548W	DPYSL3_ENST00000343218.5_Missense_Mutation_p.G662W|DPYSL3_ENST00000534907.1_Missense_Mutation_p.G174W	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	548					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCGAACCCCCTCATCCACT	0.537																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1984-1986)Ggg>Tgg		dihydropyrimidinase-like 3							51.0	53.0	53.0					5																	146773669		1832	4087	5919	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146773669C>A	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.1642G>T	5.37:g.146773669C>A	ENSP00000381526:p.Gly548Trp					DPYSL3_ENST00000398514.3_Missense_Mutation_p.G548W|DPYSL3_ENST00000534907.1_Missense_Mutation_p.G174W	p.G662W	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	2181	-			548					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.1984G>T	CCDS43381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.29|13.29	2.193347|2.193347	0.38707|0.38707	.|.	.|.	ENSG00000113657|ENSG00000113657	ENST00000520473|ENST00000398514;ENST00000343218;ENST00000534907	.|D;D;T	.|0.85556	.|-2.0;-2.0;-0.8	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.290613|0.290613	0.38164|0.38164	N|N	0.001785|0.001785	D|D	0.84669|0.84669	0.5523|0.5523	N|N	0.14661|0.14661	0.345|0.345	0.52099|0.52099	D|D	0.999948|0.999948	.|D;P	.|0.54772	.|0.968;0.776	.|P;B	.|0.57057	.|0.812;0.325	D|D	0.87657|0.87657	0.2532|0.2532	6|10	.|0.87932	.|D	.|0	-20.5924|-20.5924	19.2217|19.2217	0.93799|0.93799	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|662;548	.|B3SXQ8;Q14195	.|.;DPYL3_HUMAN	V|W	186|548;662;174	.|ENSP00000381526:G548W;ENSP00000343690:G662W;ENSP00000441819:G174W	.|ENSP00000343690:G662W	G|G	-|-	2|1	0|0	DPYSL3|DPYSL3	146753862|146753862	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.125000|0.125000	0.20455|0.20455	2.516000|2.516000	0.45520|0.45520	2.537000|2.537000	0.85549|0.85549	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.537	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		6	73	6	73	---	---	---	---
STC2	8614	broad.mit.edu	37	5	172752929	172752929	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:172752929C>A	ENST00000265087.4	-	2	1545	c.236G>T	c.(235-237)cGg>cTg	p.R79L	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	79					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATGTAAGCCCCGAATCTCACA	0.468																																						ENST00000265087.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(235-237)cGg>cTg		stanniocalcin 2							239.0	258.0	252.0					5																	172752929		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172752929C>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.236G>T	5.37:g.172752929C>A	ENSP00000265087:p.Arg79Leu						p.R79L	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1545	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	79						Missense_Mutation	SNP	ENST00000265087.4	37	c.236G>T	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330087	0.95733	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.45	4.57	0.56435	.	0.059557	0.64402	D	0.000002	T	0.64951	0.2645	M	0.63428	1.95	0.54753	D	0.999982	P	0.47484	0.896	P	0.51657	0.676	T	0.66803	-0.5831	9	0.51188	T	0.08	-19.3607	13.2335	0.59957	0.0:0.9226:0.0:0.0774	.	79	O76061	STC2_HUMAN	L	79	.	ENSP00000265087:R79L	R	-	2	0	STC2	172685535	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	3.075000	0.50073	1.276000	0.44395	0.655000	0.94253	CGG		0.468	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		9	357	9	357	---	---	---	---
HIST1H4A	8359	broad.mit.edu	37	6	26021990	26021990	+	Missense_Mutation	SNP	G	G	T	rs376305446		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:26021990G>T	ENST00000359907.3	+	1	84	c.84G>T	c.(82-84)caG>caT	p.Q28H		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	28					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)			large_intestine(1)|skin(1)	2						ACAACATCCAGGGCATCACCA	0.622																																						ENST00000359907.3																			0				large_intestine(1)|skin(1)	2						c.(82-84)caG>caT		histone cluster 1, H4a							76.0	77.0	77.0					6																	26021990		2203	4300	6503	SO:0001583	missense	8359				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26021990G>T	X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"""Histones / Replication-dependent"""	4781	protein-coding gene	gene with protein product		602822	"""H4 histone family, member A"", ""histone 1, H4a"""	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.84G>T	6.37:g.26021990G>T	ENSP00000352980:p.Gln28His						p.Q28H	NM_003538.3	NP_003529.1	P62805	H4_HUMAN			1	84	+			28					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	c.84G>T	CCDS4571.1	.	.	.	.	.	.	.	.	.	.	g	15.92	2.975092	0.53720	.	.	ENSG00000196176	ENST00000359907	T	0.68181	-0.31	3.79	1.96	0.26148	.	.	.	.	.	T	0.53530	0.1802	.	.	.	0.38459	D	0.947177	.	.	.	.	.	.	T	0.51092	-0.8749	5	.	.	.	.	9.5523	0.39317	0.1798:0.0:0.8202:0.0	.	.	.	.	H	28	ENSP00000352980:Q28H	.	Q	+	3	2	HIST1H4A	26129969	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	4.342000	0.59341	0.340000	0.23745	-0.150000	0.13652	CAG		0.622	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040081.1	NM_003538		5	57	5	57	---	---	---	---
TULP1	7287	broad.mit.edu	37	6	35477698	35477698	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:35477698C>A	ENST00000229771.6	-	6	586	c.507G>T	c.(505-507)ctG>ctT	p.L169L	TULP1_ENST00000322263.4_Silent_p.L116L	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	169					dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGGCTTCCCAGGTCTCCTG	0.567																																					GBM(55;1027 1091 11115 23439)	ENST00000229771.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(505-507)ctG>ctT		tubby like protein 1							79.0	83.0	81.0					6																	35477698		2203	4300	6503	SO:0001819	synonymous_variant	7287				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding	g.chr6:35477698C>A	U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.507G>T	6.37:g.35477698C>A						TULP1_ENST00000322263.4_Silent_p.L116L	p.L169L	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN			6	586	-			169					O43536|Q5TGM5|Q8N571	Silent	SNP	ENST00000229771.6	37	c.507G>T	CCDS4807.1																																																																																				0.567	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040307.2			5	110	5	110	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38747769	38747769	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:38747769G>T	ENST00000359357.3	+	13	1670	c.1416G>T	c.(1414-1416)ctG>ctT	p.L472L	DNAH8_ENST00000449981.2_Silent_p.L689L|DNAH8_ENST00000441566.1_Silent_p.L472L			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	472					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCCTGTCTGGGATTAGAAA	0.343																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(1414-1416)ctG>ctT		dynein, axonemal, heavy chain 8							121.0	118.0	119.0					6																	38747769		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38747769G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.1416G>T	6.37:g.38747769G>T						DNAH8_ENST00000441566.1_Silent_p.L472L|DNAH8_ENST00000449981.2_Silent_p.L689L	p.L472L							13	1670	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.1416G>T																																																																																					0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	45	5	45	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43188277	43188277	+	Silent	SNP	C	C	A	rs189476869		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:43188277C>A	ENST00000252050.4	+	32	6447	c.6363C>A	c.(6361-6363)ccC>ccA	p.P2121P	CUL9_ENST00000372647.2_Silent_p.P2093P|CUL9_ENST00000354495.3_Silent_p.P2011P|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2121					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCGACTGCCCCGCCCAGCCCA	0.582																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(6361-6363)ccC>ccA		cullin 9							141.0	139.0	140.0					6																	43188277		2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43188277C>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.6363C>A	6.37:g.43188277C>A						CUL9_ENST00000354495.3_Silent_p.P2011P|CUL9_ENST00000372647.2_Silent_p.P2093P|RP3-330M21.5_ENST00000500590.1_RNA	p.P2121P	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			32	6447	+			2121					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.6363C>A	CCDS4890.1																																																																																				0.582	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		6	220	6	220	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70049277	70049277	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:70049277A>T	ENST00000370598.1	+	26	4161	c.3340A>T	c.(3340-3342)Atg>Ttg	p.M1114L	BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1114					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGACGTGGATGTCTGCGGT	0.453																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(3340-3342)Atg>Ttg		brain-specific angiogenesis inhibitor 3							305.0	277.0	286.0					6																	70049277		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70049277A>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3340A>T	6.37:g.70049277A>T	ENSP00000359630:p.Met1114Leu					BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L	p.M1114L	NM_001704.2	NP_001695	O60242	BAI3_HUMAN			26	4161	+		all_lung(197;0.212)	1114					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.3340A>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298027	0.60086	.	.	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.40756	1.51;1.51;1.02	5.74	5.74	0.90152	GPCR, family 2-like (1);	0.039120	0.85682	D	0.000000	T	0.33059	0.0850	N	0.15975	0.35	0.54753	D	0.999983	P;P;B	0.40032	0.699;0.699;0.003	P;P;B	0.58130	0.833;0.768;0.015	T	0.30621	-0.9972	10	0.25751	T	0.34	.	16.0356	0.80625	1.0:0.0:0.0:0.0	.	320;1114;1114	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	L	1114;320;78	ENSP00000359630:M1114L;ENSP00000238918:M320L;ENSP00000441821:M78L	ENSP00000238918:M320L	M	+	1	0	BAI3	70105998	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.339000	0.96797	2.187000	0.69744	0.528000	0.53228	ATG		0.453	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			44	171	44	171	---	---	---	---
L3MBTL3	84456	broad.mit.edu	37	6	130425710	130425710	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:130425710C>A	ENST00000529410.1	+	21	2355	c.1876C>A	c.(1876-1878)Cct>Act	p.P626T	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.P601T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.P601T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.P601T			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	626					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P626T(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CTCTTCTTCCCCTGAAATCAG	0.348																																						ENST00000529410.1																			1	Substitution - Missense(1)	p.P626T(1)	lung(1)	cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(1876-1878)Cct>Act		l(3)mbt-like 3 (Drosophila)							86.0	89.0	88.0					6																	130425710		2203	4300	6503	SO:0001583	missense	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130425710C>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1876C>A	6.37:g.130425710C>A	ENSP00000431962:p.Pro626Thr					L3MBTL3_ENST00000526019.1_Missense_Mutation_p.P601T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.P601T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.P601T	p.P626T			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	21	2355	+			626					Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	37	c.1876C>A	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514547	0.27123	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.14766	2.48;2.51;2.48;2.51;2.51;2.48	6.17	6.17	0.99709	.	0.056321	0.64402	D	0.000002	T	0.25938	0.0632	L	0.55481	1.735	0.58432	D	0.999993	D;B	0.76494	0.999;0.035	D;B	0.80764	0.994;0.01	T	0.00072	-1.2128	10	0.45353	T	0.12	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	601;626	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	T	626;601;626;601;601;626	ENSP00000431962:P626T;ENSP00000437185:P601T;ENSP00000354526:P626T;ENSP00000357121:P601T;ENSP00000436706:P601T;ENSP00000357118:P626T	ENSP00000354526:P626T	P	+	1	0	L3MBTL3	130467403	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	4.705000	0.61838	2.941000	0.99782	0.655000	0.94253	CCT		0.348	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		7	128	7	128	---	---	---	---
TAAR8	83551	broad.mit.edu	37	6	132874239	132874239	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:132874239C>A	ENST00000275200.1	+	1	408	c.408C>A	c.(406-408)ccC>ccA	p.P136P		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	136					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTACTGATCCCCTGGTCTATG	0.488																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(406-408)ccC>ccA		trace amine associated receptor 8							361.0	319.0	334.0					6																	132874239		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874239C>A	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.408C>A	6.37:g.132874239C>A							p.P136P	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	408	+	Breast(56;0.112)		136					Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.408C>A	CCDS5154.1																																																																																				0.488	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		10	392	10	392	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135679325	135679325	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:135679325C>A	ENST00000367800.4	-	22	3326	c.3110G>T	c.(3109-3111)gGg>gTg	p.G1037V	AHI1_ENST00000457866.2_Splice_Site_p.G1037V|AHI1_ENST00000417892.2_Splice_Site_p.G391V	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1037					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GCTGATAATCCCTGTGGAAAG	0.343																																						ENST00000367800.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37						c.(3109-3111)gGg>gTg		Abelson helper integration site 1							287.0	281.0	283.0					6																	135679325		1856	4096	5952	SO:0001630	splice_region_variant	54806					adherens junction|cilium|microtubule basal body		g.chr6:135679325C>A	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3110-1G>T	6.37:g.135679325C>A						AHI1_ENST00000457866.2_Splice_Site_p.G1037V|AHI1_ENST00000417892.2_Splice_Site_p.G391V	p.G1037V	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	22	3326	-	Breast(56;0.239)|Colorectal(23;0.24)		1037					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Splice_Site	SNP	ENST00000367800.4	37	c.3110G>T	CCDS47483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.44|13.44	2.236909|2.236909	0.39498|0.39498	.|.	.|.	ENSG00000135541|ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000417892;ENST00000265602|ENST00000367799	T;T;T;T|.	0.63096|.	0.27;0.27;-0.02;0.27|.	5.4|5.4	3.59|3.59	0.41128|0.41128	.|.	0.422095|0.422095	0.28062|0.28062	N|N	0.016743|0.016743	T|.	0.20820|.	0.0501|.	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	P;P|.	0.50066|.	0.931;0.875|.	P;B|.	0.47673|.	0.554;0.212|.	T|.	0.05068|.	-1.0908|.	10|.	0.18276|0.09084	T|T	0.48|0.74	.|.	9.5725|9.5725	0.39436|0.39436	0.0:0.7771:0.1467:0.0762|0.0:0.7771:0.1467:0.0762	.|.	1037;1037|.	Q8N157;Q4FD35|.	AHI1_HUMAN;.|.	V|X	1037;1037;391;1037|537	ENSP00000356774:G1037V;ENSP00000388650:G1037V;ENSP00000416867:G391V;ENSP00000265602:G1037V|.	ENSP00000265602:G1037V|ENSP00000356773:G537X	G|G	-|-	2|1	0|0	AHI1|AHI1	135721018|135721018	0.979000|0.979000	0.34478|0.34478	0.669000|0.669000	0.29828|0.29828	0.393000|0.393000	0.30537|0.30537	2.314000|2.314000	0.43743|0.43743	0.740000|0.740000	0.32651|0.32651	0.557000|0.557000	0.71058|0.71058	GGG|GGA		0.343	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651	Missense_Mutation	11	367	11	367	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136597547	136597547	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:136597547C>A	ENST00000531224.1	-	5	1368	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D	BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E372D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E370D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E370D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E370D	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	372					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)		CCCATTCTCCCTCTGCCCTCC	0.433																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(1114-1116)gaG>gaT		BCL2-associated transcription factor 1							202.0	219.0	213.0					6																	136597547		2203	4296	6499	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597547C>A	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.1116G>T	6.37:g.136597547C>A	ENSP00000435210:p.Glu372Asp					BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E372D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E370D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E370D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E370D	p.E372D	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)	5	1368	-	Colorectal(23;0.24)		372					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.1116G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	6.629	0.484442	0.12641	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53	5.53	1.74	0.24563	.	0.096055	0.45606	N	0.000355	T	0.01976	0.0062	N	0.08118	0	0.80722	D	1	P;P;P	0.49783	0.865;0.928;0.865	B;P;B	0.46975	0.379;0.533;0.379	T	0.37174	-0.9717	10	0.10377	T	0.69	-5.9062	2.818	0.05463	0.1282:0.5472:0.1237:0.2009	.	370;370;372	Q9NYF8-2;Q9NYF8-3;Q9NYF8	.;.;BCLF1_HUMAN	D	372;370;372;370;370;372	ENSP00000435210:E372D;ENSP00000229446:E370D;ENSP00000435441:E372D;ENSP00000434826:E370D;ENSP00000376159:E370D;ENSP00000431734:E372D	ENSP00000229446:E370D	E	-	3	2	BCLAF1	136639240	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.066000	0.30604	0.105000	0.17753	0.650000	0.86243	GAG		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		9	382	9	382	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145093097	145093097	+	Silent	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:145093097A>G	ENST00000367545.3	+	58	8550	c.8550A>G	c.(8548-8550)caA>caG	p.Q2850Q	UTRN_ENST00000367526.4_Silent_p.Q405Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTCTTTCAATCCCTTGGTA	0.269																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(8548-8550)caA>caG		utrophin							64.0	69.0	68.0					6																	145093097		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145093097A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8550A>G	6.37:g.145093097A>G						UTRN_ENST00000367526.4_Silent_p.Q405Q	p.Q2850Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	58	8550	+		Ovarian(120;0.218)	2850			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.8550A>G	CCDS34547.1																																																																																				0.269	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	85	4	85	---	---	---	---
EPM2A	7957	broad.mit.edu	37	6	145948584	145948584	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:145948584C>A	ENST00000367519.3	-	4	1489	c.964G>T	c.(964-966)Ggg>Tgg	p.G322W		NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN	epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)	322					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|habituation (GO:0046959)|inositol phosphate dephosphorylation (GO:0046855)|nervous system development (GO:0007399)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polysome (GO:0005844)	carbohydrate phosphatase activity (GO:0019203)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|starch binding (GO:2001070)			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		CGAACCTTCCCAAATTTCTGG	0.522																																						ENST00000367519.3																			0				kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7						c.(964-966)Ggg>Tgg		epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)							98.0	106.0	103.0					6																	145948584		2203	4300	6503	SO:0001583	missense	7957				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:145948584C>A	AF284580	CCDS5206.1	6q24	2011-06-09			ENSG00000112425	ENSG00000112425		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	3413	protein-coding gene	gene with protein product		607566	"""epilepsy, progressive myoclonus type 2, Lafora disease (laforin)"""			9222970, 7485240	Standard	XM_006715564		Approved	LDE, LD	uc003qkw.3	B3EWF7	OTTHUMG00000015747	ENST00000367519.3:c.964G>T	6.37:g.145948584C>A	ENSP00000356489:p.Gly322Trp						p.G322W	NM_005670.3	NP_005661.1	O95278	EPM2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)	4	1489	-		Ovarian(120;0.162)	322					B3KMU5|B4DRZ2|O95483|Q5T3F5|Q6IS15|Q8IU96|Q8IX24|Q8IX25|Q9BS66|Q9UEN2	Missense_Mutation	SNP	ENST00000367519.3	37	c.964G>T	CCDS5206.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764776	0.90020	.	.	ENSG00000112425	ENST00000367519;ENST00000324857	D	0.97598	-4.45	5.89	5.89	0.94794	.	0.093640	0.85682	D	0.000000	D	0.98036	0.9353	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.969	D	0.98652	1.0680	10	0.87932	D	0	-15.3685	20.2562	0.98421	0.0:1.0:0.0:0.0	.	322;184	O95278;E1P599	EPM2A_HUMAN;.	W	322	ENSP00000356489:G322W	ENSP00000320279:G322W	G	-	1	0	EPM2A	145990277	1.000000	0.71417	0.959000	0.39883	0.809000	0.45718	7.487000	0.81328	2.797000	0.96272	0.563000	0.77884	GGG		0.522	EPM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042564.1			6	164	6	164	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755763	146755763	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:146755763C>A	ENST00000282753.1	+	8	3651	c.3416C>A	c.(3415-3417)cCg>cAg	p.P1139Q	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.P1139Q|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1139					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		AAACTGACCCCGGATGATTCG	0.657																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3415-3417)cCg>cAg		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						45.0	49.0	48.0					6																	146755763		2202	4300	6502	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755763C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3416C>A	6.37:g.146755763C>A	ENSP00000282753:p.Pro1139Gln					GRM1_ENST00000282753.1_Missense_Mutation_p.P1139Q|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR	p.P1139Q	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3886	+		Ovarian(120;0.0387)	1139					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3416C>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.977177	0.53720	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.87179	-2.22;-2.22	5.97	5.97	0.96955	.	0.265792	0.42172	N	0.000757	T	0.70988	0.3287	L	0.43152	1.355	0.80722	D	1	P	0.43857	0.819	B	0.33846	0.171	T	0.76942	-0.2772	10	0.56958	D	0.05	.	7.8503	0.29451	0.0:0.8124:0.0:0.1876	.	1139	Q13255	GRM1_HUMAN	Q	1139	ENSP00000354896:P1139Q;ENSP00000282753:P1139Q	ENSP00000282753:P1139Q	P	+	2	0	GRM1	146797456	0.992000	0.36948	0.261000	0.24466	0.992000	0.81027	3.134000	0.50538	2.837000	0.97791	0.655000	0.94253	CCG		0.657	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		5	96	5	96	---	---	---	---
RAET1E	135250	broad.mit.edu	37	6	150209736	150209736	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:150209736C>A	ENST00000357183.4	-	4	822	c.690G>T	c.(688-690)ctG>ctT	p.L230L	RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L194L|RAET1E_ENST00000532335.1_Intron|RAET1E-AS1_ENST00000446954.2_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	230					antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		TGAATGCCCCCAGGATGATCC	0.418																																						ENST00000357183.4																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.(688-690)ctG>ctT		retinoic acid early transcript 1E							101.0	95.0	97.0					6																	150209736		2203	4300	6503	SO:0001819	synonymous_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150209736C>A	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.690G>T	6.37:g.150209736C>A						RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L194L|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Intron	p.L230L	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	4	822	-		Ovarian(120;0.0907)	230					A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	c.690G>T	CCDS5221.1																																																																																				0.418	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		6	84	6	84	---	---	---	---
RAET1E	135250	broad.mit.edu	37	6	150211085	150211085	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:150211085C>A	ENST00000357183.4	-	2	414	c.282G>T	c.(280-282)ctG>ctT	p.L94L	RAET1E_ENST00000529948.1_Silent_p.L94L|RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L58L|RAET1E_ENST00000532335.1_Silent_p.L94L|RAET1E-AS1_ENST00000446954.2_RNA	NM_139165.2	NP_631904.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	94	MHC class I alpha-1 like.				antigen processing and presentation (GO:0019882)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CCACTTCTCCCAGCGTTTGGG	0.532																																						ENST00000532335.1																			0				cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10						c.(280-282)ctG>ctT		retinoic acid early transcript 1E							122.0	114.0	117.0					6																	150211085		2203	4300	6503	SO:0001819	synonymous_variant	135250				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150211085C>A	AF359243	CCDS5221.1, CCDS59042.1, CCDS59043.1, CCDS59044.1	6q24.3	2011-02-09			ENSG00000164520	ENSG00000164520			16793	protein-coding gene	gene with protein product		609243				11827464	Standard	NM_139165		Approved	LETAL, bA350J20.7, ULBP4	uc003qnl.1	Q8TD07	OTTHUMG00000015796	ENST00000357183.4:c.282G>T	6.37:g.150211085C>A						RAET1E_ENST00000357183.4_Silent_p.L94L|RAET1E_ENST00000529948.1_Silent_p.L94L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L58L|RAET1E-AS1_ENST00000605899.1_RNA	p.L94L	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)	3	628	-		Ovarian(120;0.0907)	94			MHC class I alpha-1 like.		A6YF59|Q5VYB7|Q5VYB8|Q8TEZ2|Q96L41	Silent	SNP	ENST00000357183.4	37	c.282G>T	CCDS5221.1																																																																																				0.532	RAET1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042659.1	NM_139165		5	101	5	101	---	---	---	---
ULBP3	79465	broad.mit.edu	37	6	150386567	150386567	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:150386567G>T	ENST00000367339.2	-	3	623	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	ULBP3_ENST00000438272.2_Missense_Mutation_p.L199M			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3	199	MHC class I alpha-2 like.				antigen processing and presentation (GO:0019882)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of immune response (GO:0050776)|viral process (GO:0016032)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	natural killer cell lectin-like receptor binding (GO:0046703)			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTGTGCATCAGGAAGTCCCTA	0.532																																						ENST00000367339.2																			0				central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9						c.(595-597)Ctg>Atg		UL16 binding protein 3							137.0	127.0	131.0					6																	150386567		2203	4300	6503	SO:0001583	missense	79465				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:150386567G>T	AF304379	CCDS5225.1	6q25	2008-04-11			ENSG00000131019	ENSG00000131019			14895	protein-coding gene	gene with protein product		605699				11239445, 11827464	Standard	NM_024518		Approved	RAET1N	uc003qns.3	Q9BZM4	OTTHUMG00000015811	ENST00000367339.2:c.595C>A	6.37:g.150386567G>T	ENSP00000356308:p.Leu199Met					ULBP3_ENST00000438272.2_Missense_Mutation_p.L199M	p.L199M			Q9BZM4	N2DL3_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)	3	623	-		Ovarian(120;0.12)				MHC class I alpha-2 like.		Q5VY82|Q8IZX5|Q8TE75	Missense_Mutation	SNP	ENST00000367339.2	37	c.595C>A	CCDS5225.1	.	.	.	.	.	.	.	.	.	.	G	5.353	0.250333	0.10130	.	.	ENSG00000131019	ENST00000367339;ENST00000438272	T;T	0.01369	4.97;4.97	3.33	-6.65	0.01795	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00967	0.0032	L	0.54323	1.7	0.09310	N	1	D;D	0.55385	0.971;0.971	D;D	0.62955	0.909;0.909	T	0.45745	-0.9240	9	0.87932	D	0	-0.2615	1.9265	0.03318	0.2385:0.0993:0.1697:0.4925	.	199;199	Q5VY82;Q9BZM4	.;N2DL3_HUMAN	M	199	ENSP00000356308:L199M;ENSP00000403562:L199M	ENSP00000356308:L199M	L	-	1	2	ULBP3	150428260	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.127000	0.00592	-4.351000	0.00054	-1.241000	0.01538	CTG		0.532	ULBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042678.2			7	110	7	110	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151130591	151130591	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:151130591C>A	ENST00000358517.2	+	9	1381	c.1170C>A	c.(1168-1170)ccC>ccA	p.P390P	PLEKHG1_ENST00000367328.1_Silent_p.P390P			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	390	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACAAGAATCCCAAGCTGCAGC	0.552																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(1168-1170)ccC>ccA		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							89.0	90.0	90.0					6																	151130591		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151130591C>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1170C>A	6.37:g.151130591C>A						PLEKHG1_ENST00000358517.2_Silent_p.P390P	p.P390P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	10	1482	+			390			PH.		Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.1170C>A	CCDS34552.1																																																																																				0.552	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			6	106	6	106	---	---	---	---
LPAL2	80350	broad.mit.edu	37	6	160903810	160903810	+	RNA	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:160903810C>A	ENST00000335388.5	-	0	1073					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TGTCCATTACCGTGGTAGCAC	0.478																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														80350							g.chr6:160903810C>A	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160903810C>A								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	1073	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.478	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		6	284	6	284	---	---	---	---
PLG	5340	broad.mit.edu	37	6	161162389	161162389	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:161162389C>A	ENST00000308192.9	+	17	2128	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	689	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCTGCCATCCCCAAATTATGT	0.478																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(2065-2067)Cca>Aca		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						116.0	99.0	105.0					6																	161162389		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161162389C>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2065C>A	6.37:g.161162389C>A	ENSP00000308938:p.Pro689Thr						p.P689T	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	17	2128	+			689			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.2065C>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	5.606	0.296487	0.10622	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.87729	-2.29	3.73	-7.47	0.01365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.061280	0.07544	U	0.914455	T	0.41419	0.1158	N	0.02865	-0.47	0.09310	N	1	B	0.14012	0.009	B	0.14578	0.011	T	0.44221	-0.9342	10	0.15952	T	0.53	.	7.717	0.28710	0.0:0.2387:0.4761:0.2852	.	689	P00747	PLMN_HUMAN	T	689;89	ENSP00000308938:P689T	ENSP00000308938:P689T	P	+	1	0	PLG	161082379	0.000000	0.05858	0.001000	0.08648	0.733000	0.41908	-1.417000	0.02464	-1.100000	0.03030	-0.396000	0.06452	CCA		0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	70	5	70	---	---	---	---
T	6862	broad.mit.edu	37	6	166580170	166580170	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:166580170G>T	ENST00000296946.2	-	3	849	c.381C>A	c.(379-381)ccC>ccA	p.P127P	T_ENST00000366871.3_Silent_p.P127P	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	127					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGGGCGAGTCGGGGTGGATGT	0.652									Chordoma, Familial Clustering of																													ENST00000296946.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(379-381)ccC>ccA		T, brachyury homolog (mouse)							52.0	58.0	56.0					6																	166580170		2203	4300	6503	SO:0001819	synonymous_variant	6862	Chordoma, Familial Clustering of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166580170G>T	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.381C>A	6.37:g.166580170G>T						T_ENST00000366871.3_Silent_p.P127P	p.P127P	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	3	849	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	127					E7ERD6|Q4KMP4	Silent	SNP	ENST00000296946.2	37	c.381C>A	CCDS5290.1																																																																																				0.652	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		5	98	5	98	---	---	---	---
HEATR2	54919	broad.mit.edu	37	7	796443	796443	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:796443G>T	ENST00000297440.6	+	6	1302	c.1282G>T	c.(1282-1284)Ggg>Tgg	p.G428W	HEATR2_ENST00000313147.5_Missense_Mutation_p.G428W	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	428						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGAGCTCGTCGGGACGTTTGT	0.607																																						ENST00000297440.6																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22						c.(1282-1284)Ggg>Tgg		HEAT repeat containing 2							98.0	98.0	98.0					7																	796443		2203	4300	6503	SO:0001583	missense	54919						protein binding	g.chr7:796443G>T	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.1282G>T	7.37:g.796443G>T	ENSP00000297440:p.Gly428Trp					HEATR2_ENST00000313147.5_Missense_Mutation_p.G428W	p.G428W	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)	6	1302	+		Ovarian(82;0.0112)	428					Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	c.1282G>T	CCDS34580.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.88|16.88	3.246037|3.246037	0.59103|0.59103	.|.	.|.	ENSG00000164818|ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862|ENST00000440747	T;T|.	0.69040|.	-0.37;-0.37|.	5.49|5.49	5.49|5.49	0.81192|0.81192	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83238|0.83238	0.5211|0.5211	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.84653|0.84653	0.0702|0.0702	10|5	0.87932|.	D|.	0|.	-56.5693|-56.5693	19.36|19.36	0.94432|0.94432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	428;174|.	Q86Y56;F5H8D4|.	HEAT2_HUMAN;.|.	W|L	428;428;174|229	ENSP00000297440:G428W;ENSP00000321451:G428W|.	ENSP00000297440:G428W|.	G|R	+|+	1|2	0|0	HEATR2|HEATR2	762969|762969	1.000000|1.000000	0.71417|0.71417	0.109000|0.109000	0.21407|0.21407	0.025000|0.025000	0.11179|0.11179	8.915000|8.915000	0.92740|0.92740	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.607	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802		5	208	5	208	---	---	---	---
BRAT1	221927	broad.mit.edu	37	7	2583464	2583464	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:2583464C>A	ENST00000340611.4	-	5	819	c.563G>T	c.(562-564)gGg>gTg	p.G188V	BRAT1_ENST00000473879.1_5'Flank	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	188					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						CCAGTCACCCCCCGGCAGGCA	0.662																																						ENST00000340611.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						c.(562-564)gGg>gTg		BRCA1-associated ATM activator 1							46.0	55.0	51.0					7																	2583464		2203	4300	6503	SO:0001583	missense	221927				response to ionizing radiation	nucleus	protein binding	g.chr7:2583464C>A	BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.563G>T	7.37:g.2583464C>A	ENSP00000339637:p.Gly188Val						p.G188V	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN			5	819	-			188					A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Missense_Mutation	SNP	ENST00000340611.4	37	c.563G>T	CCDS5334.1	.	.	.	.	.	.	.	.	.	.	C	5.776	0.327553	0.10956	.	.	ENSG00000106009	ENST00000340611	D	0.91686	-2.89	5.17	-5.95	0.02241	Armadillo-type fold (1);	1.091950	0.06795	N	0.787656	T	0.81673	0.4872	N	0.22421	0.69	0.09310	N	1	B;B	0.17852	0.01;0.024	B;B	0.14578	0.011;0.005	T	0.66520	-0.5903	10	0.40728	T	0.16	0.0356	3.1687	0.06545	0.0961:0.1383:0.3399:0.4258	.	188;188	Q6PJG6-2;Q6PJG6	.;BRAT1_HUMAN	V	188	ENSP00000339637:G188V	ENSP00000339637:G188V	G	-	2	0	BRAT1	2549990	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.055000	0.14229	-1.074000	0.03132	0.655000	0.94253	GGG		0.662	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239305.2	NM_152743		6	93	6	93	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11514043	11514043	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:11514043C>A	ENST00000423059.4	-	8	2421	c.2170G>T	c.(2170-2172)Ggg>Tgg	p.G724W	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	724	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GAGGCCTCCCCATTCCAAGTC	0.517										HNSCC(18;0.044)																												ENST00000423059.4																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2170-2172)Ggg>Tgg		thrombospondin, type I, domain containing 7A							99.0	98.0	99.0					7																	11514043		2031	4198	6229	SO:0001583	missense	221981					integral to membrane		g.chr7:11514043C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2170G>T	7.37:g.11514043C>A	ENSP00000406482:p.Gly724Trp	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.G724W	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	8	2421	-						TSP type-1 7.			Missense_Mutation	SNP	ENST00000423059.4	37	c.2170G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.076592	0.55753	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.60171	0.21	5.55	3.63	0.41609	.	0.328852	0.36932	N	0.002333	T	0.64800	0.2631	L	0.52573	1.65	0.42466	D	0.992808	D	0.55605	0.972	P	0.61201	0.885	T	0.63980	-0.6514	10	0.38643	T	0.18	.	11.0879	0.48097	0.0:0.8012:0.1289:0.0699	.	724	Q9UPZ6	THS7A_HUMAN	W	724	ENSP00000406482:G724W	ENSP00000262042:G724W	G	-	1	0	THSD7A	11480568	0.040000	0.19996	0.997000	0.53966	0.587000	0.36485	2.431000	0.44775	1.478000	0.48253	0.563000	0.77884	GGG		0.517	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	109	5	109	---	---	---	---
NFE2L3	9603	broad.mit.edu	37	7	26225294	26225294	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:26225294C>A	ENST00000056233.3	+	4	2235	c.1976C>A	c.(1975-1977)cCc>cAc	p.P659H		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	659					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCAGTCAATCCCAACCACTAT	0.403																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1975-1977)cCc>cAc		nuclear factor, erythroid 2-like 3							100.0	98.0	99.0					7																	26225294		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225294C>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1976C>A	7.37:g.26225294C>A	ENSP00000056233:p.Pro659His						p.P659H	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2235	+			659					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1976C>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.937131	0.52972	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.39056	1.1	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68393	0.2996	M	0.87547	2.89	0.54753	D	0.99998	D	0.89917	1.0	D	0.75484	0.986	T	0.73350	-0.4010	10	0.87932	D	0	-14.7513	13.8747	0.63645	0.0:0.9263:0.0:0.0737	.	659	Q9Y4A8	NF2L3_HUMAN	H	659;364	ENSP00000056233:P659H	ENSP00000056233:P659H	P	+	2	0	NFE2L3	26191819	0.362000	0.24980	1.000000	0.80357	0.567000	0.35839	2.096000	0.41738	2.738000	0.93877	0.591000	0.81541	CCC		0.403	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			5	78	5	78	---	---	---	---
PLEKHA8	84725	broad.mit.edu	37	7	30084733	30084733	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:30084733G>T	ENST00000449726.1	+	2	423	c.73G>T	c.(73-75)Gga>Tga	p.G25*	PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000258679.7_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396257.2_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396259.1_Nonsense_Mutation_p.G25*	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	25	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ER to Golgi ceramide transport (GO:0035621)|lipid transport (GO:0006869)|protein transport (GO:0015031)	membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ceramide binding (GO:0097001)|glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)|phosphatidylinositol-4-phosphate binding (GO:0070273)			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TCTCTGTGGGGGAATATTGTC	0.433																																						ENST00000449726.1																			0				breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						c.(73-75)Gga>Tga		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8							187.0	178.0	181.0					7																	30084733		2203	4300	6503	SO:0001587	stop_gained	84725				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	g.chr7:30084733G>T	BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086		"""Pleckstrin homology (PH) domain containing"""	30037	protein-coding gene	gene with protein product		608639				11001876	Standard	NM_001197027		Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000449726.1:c.73G>T	7.37:g.30084733G>T	ENSP00000397947:p.Gly25*					PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000258679.7_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396257.2_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396259.1_Nonsense_Mutation_p.G25*	p.G25*	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN			2	423	+			25			PH.		B4DH00|Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	Nonsense_Mutation	SNP	ENST00000449726.1	37	c.73G>T	CCDS56473.1	.	.	.	.	.	.	.	.	.	.	G	40	8.028764	0.98619	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.3113	17.6179	0.88072	0.0:0.0:1.0:0.0	.	.	.	.	X	25;25;25;25;51	.	ENSP00000258679:G25X	G	+	1	0	PLEKHA8	30051258	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	9.835000	0.99442	2.506000	0.84524	0.561000	0.74099	GGA		0.433	PLEKHA8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032639		7	162	7	162	---	---	---	---
DDC	1644	broad.mit.edu	37	7	50595942	50595942	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:50595942C>A	ENST00000444124.2	-	6	807	c.607G>T	c.(607-609)Gga>Tga	p.G203*	DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Nonsense_Mutation_p.G125*|DDC_ENST00000431062.1_Intron|DDC_ENST00000380984.4_Nonsense_Mutation_p.G203*|DDC_ENST00000357936.5_Nonsense_Mutation_p.G203*	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	203					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AATTTCACTCCACCAATTAAC	0.532																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(607-609)Gga>Tga		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						110.0	111.0	111.0					7																	50595942		2203	4300	6503	SO:0001587	stop_gained	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50595942C>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.607G>T	7.37:g.50595942C>A	ENSP00000403644:p.Gly203*					DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Nonsense_Mutation_p.G125*|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Nonsense_Mutation_p.G203*|DDC_ENST00000380984.4_Nonsense_Mutation_p.G203*	p.G203*	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN			6	807	-	Glioma(55;0.08)|all_neural(89;0.245)		203					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Nonsense_Mutation	SNP	ENST00000444124.2	37	c.607G>T	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	34	5.328890	0.95733	.	.	ENSG00000132437	ENST00000357936;ENST00000426377;ENST00000444124;ENST00000380984	.	.	.	6.06	6.06	0.98353	.	0.100889	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.53	19.3958	0.94607	0.0:1.0:0.0:0.0	.	.	.	.	X	203;125;203;203	.	ENSP00000350616:G203X	G	-	1	0	DDC	50563436	1.000000	0.71417	0.991000	0.47740	0.701000	0.40568	6.945000	0.75947	2.879000	0.98667	0.650000	0.86243	GGA		0.532	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			7	134	7	134	---	---	---	---
DDC	1644	broad.mit.edu	37	7	50611679	50611679	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:50611679G>T	ENST00000444124.2	-	2	305	c.105C>A	c.(103-105)ccC>ccA	p.P35P	DDC_ENST00000431062.1_Silent_p.P35P|DDC_ENST00000380984.4_Silent_p.P35P|DDC_ENST00000426377.1_Silent_p.P35P|DDC_ENST00000357936.5_Silent_p.P35P|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	35					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	GCAGGTACCCGGGCTCCACGT	0.567																																						ENST00000444124.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40						c.(103-105)ccC>ccA		dopa decarboxylase (aromatic L-amino acid decarboxylase)	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						208.0	170.0	183.0					7																	50611679		2203	4300	6503	SO:0001819	synonymous_variant	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50611679G>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.105C>A	7.37:g.50611679G>T						DDC_ENST00000426377.1_Silent_p.P35P|DDC_ENST00000431062.1_Silent_p.P35P|DDC_ENST00000357936.5_Silent_p.P35P|DDC_ENST00000380984.4_Silent_p.P35P	p.P35P	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN			2	305	-	Glioma(55;0.08)|all_neural(89;0.245)		35					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Silent	SNP	ENST00000444124.2	37	c.105C>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	G	3.794	-0.043070	0.07452	.	.	ENSG00000132437	ENST00000430300	.	.	.	5.92	-11.8	0.00035	.	0.000000	0.85682	D	0.000000	T	0.47746	0.1462	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67941	-0.5540	5	.	.	.	-0.4102	10.6976	0.45907	0.3456:0.0:0.4699:0.1845	.	.	.	.	Q	1	.	.	P	-	2	0	DDC	50579173	0.000000	0.05858	0.496000	0.27539	0.295000	0.27426	-3.662000	0.00400	-2.009000	0.00954	-1.708000	0.00717	CCG		0.567	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			6	226	6	226	---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73609077	73609077	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:73609077G>T	ENST00000265753.8	+	6	615	c.476G>T	c.(475-477)aGg>aTg	p.R159M	EIF4H_ENST00000495187.1_3'UTR|EIF4H_ENST00000353999.6_Missense_Mutation_p.R139M	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	159					cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|sexual reproduction (GO:0019953)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|lung(2)|prostate(1)	4						TCAGGCTTCAGGGATGACTTC	0.527																																						ENST00000265753.8																			0				endometrium(1)|lung(2)|prostate(1)	4						c.(475-477)aGg>aTg		eukaryotic translation initiation factor 4H							85.0	99.0	94.0					7																	73609077		2203	4299	6502	SO:0001583	missense	7458				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr7:73609077G>T		CCDS5564.1, CCDS5565.1	7q11.23	2013-02-12	2006-11-27	2006-11-27	ENSG00000106682	ENSG00000106682		"""RNA binding motif (RRM) containing"""	12741	protein-coding gene	gene with protein product		603431	"""Williams-Beuren syndrome chromosome region 1"""	WBSCR1		9516461, 15078951	Standard	NM_022170		Approved	WSCR1, KIAA0038	uc003uad.1	Q15056	OTTHUMG00000023025	ENST00000265753.8:c.476G>T	7.37:g.73609077G>T	ENSP00000265753:p.Arg159Met					EIF4H_ENST00000353999.6_Missense_Mutation_p.R139M|EIF4H_ENST00000495187.1_3'UTR	p.R159M	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN			6	615	+			159					A8K3R1|D3DXF6|D3DXF8	Missense_Mutation	SNP	ENST00000265753.8	37	c.476G>T	CCDS5564.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334793	0.41297	.	.	ENSG00000106682	ENST00000265753;ENST00000353999	T;T	0.76060	1.19;-0.99	5.14	4.13	0.48395	.	0.120468	0.56097	D	0.000037	T	0.68787	0.3039	L	0.54323	1.7	0.35185	D	0.772879	B;P	0.34462	0.327;0.454	B;B	0.41088	0.347;0.188	T	0.73836	-0.3857	10	0.42905	T	0.14	-13.0911	4.7405	0.13010	0.219:0.0:0.781:0.0	.	139;159	Q15056-2;Q15056	.;IF4H_HUMAN	M	159;139	ENSP00000265753:R159M;ENSP00000265754:R139M	ENSP00000265753:R159M	R	+	2	0	EIF4H	73247013	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	1.327000	0.33746	2.397000	0.81536	0.563000	0.77884	AGG		0.527	EIF4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252375.2	NM_022170		7	169	7	169	---	---	---	---
LMTK2	22853	broad.mit.edu	37	7	97822767	97822767	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:97822767C>A	ENST00000297293.5	+	11	3283	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	997					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGGAAACCCCGGACTCTCTG	0.592																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(2989-2991)cCg>cAg		lemur tyrosine kinase 2							94.0	103.0	100.0					7																	97822767		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97822767C>A	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.2990C>A	7.37:g.97822767C>A	ENSP00000297293:p.Pro997Gln						p.P997Q	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			11	3283	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		997					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.2990C>A	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222270	0.58560	.	.	ENSG00000164715	ENST00000297293	D	0.97665	-4.48	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99572	1.0971	10	0.87932	D	0	.	17.9175	0.88955	0.0:1.0:0.0:0.0	.	997	Q8IWU2	LMTK2_HUMAN	Q	997	ENSP00000297293:P997Q	ENSP00000297293:P997Q	P	+	2	0	LMTK2	97660703	1.000000	0.71417	0.377000	0.26055	0.008000	0.06430	7.445000	0.80570	2.540000	0.85666	0.650000	0.86243	CCG		0.592	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		7	186	7	186	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98565107	98565107	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:98565107G>T	ENST00000359863.4	+	50	7486		c.e50-1		TRRAP_ENST00000355540.3_Splice_Site|TRRAP_ENST00000446306.3_Splice_Site	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGTTACAGGGATGAGACC	0.532																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.e50-1		transformation/transcription domain-associated protein							62.0	57.0	59.0					7																	98565107		2203	4300	6503	SO:0001630	splice_region_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98565107G>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7278-1G>T	7.37:g.98565107G>T						TRRAP_ENST00000355540.3_Splice_Site|TRRAP_ENST00000446306.3_Splice_Site		NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		50	7486	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)							A4D265|O75218|Q9Y631|Q9Y6H4	Splice_Site	SNP	ENST00000359863.4	37		CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902944	0.92035	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306;ENST00000456197	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRRAP	98403043	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	.		0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	Intron	5	66	5	66	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128486957	128486957	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:128486957C>A	ENST00000325888.8	+	24	4547	c.4286C>A	c.(4285-4287)cCa>cAa	p.P1429Q	FLNC_ENST00000346177.6_Missense_Mutation_p.P1429Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1429					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGGCCCATCCCAGGTGTGCAG	0.582																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4285-4287)cCa>cAa		filamin C, gamma							56.0	58.0	57.0					7																	128486957		1961	4162	6123	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128486957C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4286C>A	7.37:g.128486957C>A	ENSP00000327145:p.Pro1429Gln					FLNC_ENST00000346177.6_Missense_Mutation_p.P1429Q	p.P1429Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			24	4547	+			1429					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.4286C>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.966880	0.92855	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84589	-1.87;-1.87	4.69	4.69	0.59074	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.85099	2.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94341	0.7570	10	0.87932	D	0	.	17.9815	0.89143	0.0:1.0:0.0:0.0	.	1429;1429	Q14315-2;Q14315	.;FLNC_HUMAN	Q	1429	ENSP00000327145:P1429Q;ENSP00000344002:P1429Q	ENSP00000327145:P1429Q	P	+	2	0	FLNC	128274193	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.567000	0.82357	2.323000	0.78572	0.561000	0.74099	CCA		0.582	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			5	76	5	76	---	---	---	---
TRBV6-9	28598	broad.mit.edu	37	7	142104184	142104184	+	RNA	SNP	G	G	T	rs375928281		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:142104184G>T	ENST00000390379.1	-	0	280									T cell receptor beta variable 6-9																		CAGCCTGAGCGGGAAATCCTC	0.517																																						ENST00000390379.1																			0																				164.0	169.0	167.0					7																	142104184		2125	4243	6368			28598							g.chr7:142104184G>T	X61447		7q34	2012-02-07			ENSG00000211732			"""T cell receptors / TRB locus"""	12234	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV69, TCRBV13S4, TCRBV6S9			OTTHUMG00000158905		7.37:g.142104184G>T														0	280	-									RNA	SNP	ENST00000390379.1	37																																																																																						0.517	TRBV6-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352517.1	NG_001333		6	230	6	230	---	---	---	---
HR	55806	broad.mit.edu	37	8	21986433	21986433	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:21986433C>A	ENST00000381418.4	-	2	1731	c.251G>T	c.(250-252)gGg>gTg	p.G84V	HR_ENST00000312841.8_Missense_Mutation_p.G84V|HR_ENST00000518377.1_5'Flank	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	84					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CTTCCTCTCCCCATTCTGGGG	0.667																																						ENST00000381418.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27						c.(250-252)gGg>gTg		hair growth associated							51.0	51.0	51.0					8																	21986433		2203	4300	6503	SO:0001583	missense	55806						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr8:21986433C>A	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.251G>T	8.37:g.21986433C>A	ENSP00000370826:p.Gly84Val					HR_ENST00000312841.8_Missense_Mutation_p.G84V	p.G84V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	2	1731	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	84					Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	c.251G>T	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612864	0.66672	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.78924	-1.2;-1.22	4.8	3.9	0.45041	.	0.000000	0.46145	D	0.000311	T	0.80544	0.4643	L	0.34521	1.04	0.51233	D	0.999913	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.81278	-0.1005	10	0.87932	D	0	-20.6044	10.0143	0.42006	0.2013:0.7987:0.0:0.0	.	84;84;84	A6NCE3;O43593-2;O43593	.;.;HAIR_HUMAN	V	84	ENSP00000370826:G84V;ENSP00000326765:G84V	ENSP00000326765:G84V	G	-	2	0	HR	22042378	0.993000	0.37304	0.979000	0.43373	0.979000	0.70002	1.717000	0.37991	1.201000	0.43203	0.561000	0.74099	GGG		0.667	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1			5	66	5	66	---	---	---	---
RHOBTB2	23221	broad.mit.edu	37	8	22865544	22865544	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:22865544C>A	ENST00000251822.6	+	6	2077	c.1540C>A	c.(1540-1542)Cac>Aac	p.H514N	RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H536N|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H521N|RP11-875O11.1_ENST00000502083.2_RNA	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	514	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CATCAGCGCCCACAAGCCCCT	0.562																																						ENST00000251822.6																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(1540-1542)Cac>Aac		Rho-related BTB domain containing 2							69.0	69.0	69.0					8																	22865544		2203	4300	6503	SO:0001583	missense	23221				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr8:22865544C>A	AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1540C>A	8.37:g.22865544C>A	ENSP00000251822:p.His514Asn					RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H521N|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H536N	p.H514N	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	6	2077	+		Prostate(55;0.0513)|Breast(100;0.214)	514			BTB 2.		A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	c.1540C>A	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448497	0.84101	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.79141	-1.24;-1.24;-1.24	4.99	4.99	0.66335	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	M	0.89478	3.035	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.75020	0.977;0.985;0.985	D	0.91079	0.4898	10	0.54805	T	0.06	.	16.8517	0.85996	0.0:1.0:0.0:0.0	.	521;514;536	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	N	536;521;514	ENSP00000427926:H536N;ENSP00000429141:H521N;ENSP00000251822:H514N	ENSP00000251822:H514N	H	+	1	0	RHOBTB2	22921489	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.769000	0.85360	2.290000	0.77057	0.655000	0.94253	CAC		0.562	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2			5	76	5	76	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48771540	48771540	+	Missense_Mutation	SNP	C	C	A	rs373126381		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:48771540C>A	ENST00000314191.2	-	48	6268	c.6212G>T	c.(6211-6213)cGg>cTg	p.R2071L	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2071L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2072					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CGTGGGGTCCCGCTGCTCCTG	0.602								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	ENST00000314191.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147						c.(6211-6213)cGg>cTg	Non-homologous end-joining	protein kinase, DNA-activated, catalytic polypeptide							99.0	104.0	103.0					8																	48771540		2185	4285	6470	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48771540C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.6212G>T	8.37:g.48771540C>A	ENSP00000313420:p.Arg2071Leu					PRKDC_ENST00000338368.3_Missense_Mutation_p.R2071L|PRKDC_ENST00000523565.1_5'UTR	p.R2071L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN			48	6268	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2072					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.6212G>T		.	.	.	.	.	.	.	.	.	.	C	12.02	1.813498	0.32053	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.27720	1.65;1.65	5.61	-4.03	0.04021	NUC194 (1);Armadillo-type fold (1);	0.768834	0.12607	N	0.454190	T	0.14227	0.0344	N	0.22421	0.69	0.09310	N	1	B;B	0.17465	0.022;0.002	B;B	0.21917	0.037;0.017	T	0.21965	-1.0230	10	0.30854	T	0.27	.	2.4355	0.04482	0.1185:0.2433:0.399:0.2391	.	2071;2072	E7EUY0;P78527	.;PRKDC_HUMAN	L	2071	ENSP00000313420:R2071L;ENSP00000345182:R2071L	ENSP00000313420:R2071L	R	-	2	0	PRKDC	48934093	0.003000	0.15002	0.000000	0.03702	0.031000	0.12232	0.823000	0.27366	-0.150000	0.11195	-0.459000	0.05422	CGG		0.602	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	207	6	207	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73849836	73849836	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:73849836C>A	ENST00000523207.1	+	3	2834	c.2246C>A	c.(2245-2247)cCg>cAg	p.P749Q		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	749					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CTCACTACCCCGCAGCACATC	0.557																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2245-2247)cCg>cAg		potassium voltage-gated channel, Shab-related subfamily, member 2							106.0	112.0	110.0					8																	73849836		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849836C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2246C>A	8.37:g.73849836C>A	ENSP00000430846:p.Pro749Gln						p.P749Q	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2834	+	Breast(64;0.137)		749					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2246C>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	8.391	0.839722	0.16891	.	.	ENSG00000182674	ENST00000523207	T	0.23348	1.91	5.04	5.04	0.67666	.	1.995190	0.03050	N	0.154511	T	0.43389	0.1245	L	0.46157	1.445	0.45648	D	0.998573	P	0.46395	0.877	P	0.53224	0.721	T	0.03728	-1.1009	10	0.56958	D	0.05	.	13.5179	0.61551	0.1559:0.844:0.0:0.0	.	749	Q92953	KCNB2_HUMAN	Q	749	ENSP00000430846:P749Q	ENSP00000430846:P749Q	P	+	2	0	KCNB2	74012390	1.000000	0.71417	0.119000	0.21687	0.185000	0.23345	5.062000	0.64326	2.602000	0.87976	0.591000	0.81541	CCG		0.557	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		9	205	9	205	---	---	---	---
CDH17	1015	broad.mit.edu	37	8	95183129	95183129	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:95183129C>A	ENST00000027335.3	-	8	992	c.868G>T	c.(868-870)Gga>Tga	p.G290*	CDH17_ENST00000450165.2_Nonsense_Mutation_p.G290*|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	290	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TAAATATCTCCTTCCTGGTCA	0.468																																						ENST00000027335.3																			0				NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52						c.(868-870)Gga>Tga		cadherin 17, LI cadherin (liver-intestine)							153.0	149.0	150.0					8																	95183129		2203	4300	6503	SO:0001587	stop_gained	1015					integral to membrane	calcium ion binding	g.chr8:95183129C>A	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.868G>T	8.37:g.95183129C>A	ENSP00000027335:p.Gly290*					CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Nonsense_Mutation_p.G290*	p.G290*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		8	992	-	Breast(36;4.65e-06)		290			Cadherin 3.		Q15336|Q2M2E0	Nonsense_Mutation	SNP	ENST00000027335.3	37	c.868G>T	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	39	7.357197	0.98235	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	.	.	.	5.95	5.95	0.96441	.	0.000000	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.442	17.8824	0.88844	0.0:1.0:0.0:0.0	.	.	.	.	X	290	.	ENSP00000027335:G290X	G	-	1	0	CDH17	95252305	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.070000	0.64376	2.810000	0.96702	0.650000	0.86243	GGA		0.468	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		6	167	6	167	---	---	---	---
RRM2B	50484	broad.mit.edu	37	8	103231175	103231175	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:103231175C>A	ENST00000251810.3	-	6	794	c.551G>T	c.(550-552)gGg>gTg	p.G184V	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Splice_Site_p.G132V|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	184					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	CACTCTTTCCCCTGGGAGACA	0.363								Modulation of nucleotide pools																														ENST00000251810.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(550-552)gGg>gTg	Modulation of nucleotide pools	ribonucleotide reductase M2 B (TP53 inducible)							99.0	106.0	104.0					8																	103231175		2203	4300	6503	SO:0001630	splice_region_variant	50484				deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding	g.chr8:103231175C>A	AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.551-1G>T	8.37:g.103231175C>A						RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Splice_Site_p.G132V|RRM2B_ENST00000519317.1_Intron	p.G184V	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000728)		6	794	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		184					B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Splice_Site	SNP	ENST00000251810.3	37	c.551G>T	CCDS34932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.033446|4.033446	0.75504|0.75504	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000395912|ENST00000522368	D;D|.	0.97089|.	-4.24;-4.24|.	5.25|5.25	5.25|5.25	0.73442|0.73442	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);|.	0.097223|.	0.64402|.	D|.	0.000001|.	D|D	0.83505|0.83505	0.5269|0.5269	M|M	0.86343|0.86343	2.81|2.81	0.80722|0.80722	D|D	1|1	P;P|.	0.52316|.	0.547;0.952|.	B;P|.	0.56960|.	0.423;0.81|.	D|D	0.85629|0.85629	0.1269|0.1269	10|5	0.87932|.	D|.	0|.	.|.	18.8628|18.8628	0.92280|0.92280	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	132;184|.	Q7LG56-2;Q7LG56|.	.;RIR2B_HUMAN|.	V|C	184;130;132|240	ENSP00000251810:G184V;ENSP00000379248:G132V|.	ENSP00000251810:G184V|.	G|W	-|-	2|3	0|0	RRM2B|RRM2B	103300351|103300351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	4.905000|4.905000	0.63286|0.63286	2.441000|2.441000	0.82636|0.82636	0.557000|0.557000	0.71058|0.71058	GGG|TGG		0.363	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3		Missense_Mutation	10	155	10	155	---	---	---	---
DDX58	23586	broad.mit.edu	37	9	32467791	32467791	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:32467791C>A	ENST00000379883.2	-	15	2311	c.2154G>T	c.(2152-2154)gtG>gtT	p.V718V	DDX58_ENST00000545044.1_Silent_p.V515V|DDX58_ENST00000379868.1_Silent_p.V515V|DDX58_ENST00000379882.1_Silent_p.V673V|DDX58_ENST00000542096.1_Silent_p.V647V	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	718	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGACATTGCCCACATACTCAT	0.403																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2017-2019)gtG>gtT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							181.0	150.0	161.0					9																	32467791		2203	4300	6503	SO:0001819	synonymous_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32467791C>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.2154G>T	9.37:g.32467791C>A						DDX58_ENST00000379883.2_Silent_p.V718V|DDX58_ENST00000545044.1_Silent_p.V515V|DDX58_ENST00000379868.1_Silent_p.V515V|DDX58_ENST00000542096.1_Silent_p.V647V	p.V673V			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	14	2176	-			718			Helicase C-terminal.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	c.2019G>T	CCDS6526.1																																																																																				0.403	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		5	85	5	85	---	---	---	---
KIF24	347240	broad.mit.edu	37	9	34310909	34310909	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:34310909G>T	ENST00000402558.2	-	1	460	c.436C>A	c.(436-438)Cag>Aag	p.Q146K	KIF24_ENST00000379166.2_Missense_Mutation_p.Q146K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q146K|KIF24_ENST00000345050.2_Missense_Mutation_p.Q146K			Q5T7B8	KIF24_HUMAN	kinesin family member 24	146					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GTATGGTACTGGGAATCATCT	0.398																																						ENST00000379166.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(436-438)Cag>Aag		kinesin family member 24							196.0	190.0	192.0					9																	34310909		1901	4134	6035	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34310909G>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.436C>A	9.37:g.34310909G>T	ENSP00000384433:p.Gln146Lys					KIF24_ENST00000345050.2_Missense_Mutation_p.Q146K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q146K|KIF24_ENST00000402558.2_Missense_Mutation_p.Q146K	p.Q146K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		2	555	-			146					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.436C>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347605	0.41599	.	.	ENSG00000186638	ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	T;T;T;T	0.71222	-0.38;-0.55;-0.38;-0.55	5.48	4.57	0.56435	.	0.194639	0.25692	N	0.028940	T	0.68100	0.2964	L	0.56769	1.78	0.23802	N	0.99681	B;B	0.21225	0.053;0.031	B;B	0.18561	0.022;0.01	T	0.62324	-0.6878	10	0.59425	D	0.04	.	15.4048	0.74868	0.0:0.3285:0.6715:0.0	.	146;146	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	K	146	ENSP00000384433:Q146K;ENSP00000368472:Q146K;ENSP00000368464:Q146K;ENSP00000340179:Q146K	ENSP00000340179:Q146K	Q	-	1	0	KIF24	34300909	1.000000	0.71417	0.978000	0.43139	0.975000	0.68041	4.609000	0.61148	1.300000	0.44818	0.650000	0.86243	CAG		0.398	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			7	225	7	225	---	---	---	---
PTPDC1	138639	broad.mit.edu	37	9	96850149	96850149	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:96850149C>A	ENST00000375360.3	+	4	631	c.291C>A	c.(289-291)tcC>tcA	p.S97S	PTPDC1_ENST00000288976.3_Silent_p.S149S	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	97					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCCGCCCATCCTCTGAGCTCC	0.463																																						ENST00000375360.3																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(289-291)tcC>tcA		protein tyrosine phosphatase domain containing 1							168.0	154.0	158.0					9																	96850149		2203	4300	6503	SO:0001819	synonymous_variant	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96850149C>A	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.291C>A	9.37:g.96850149C>A						PTPDC1_ENST00000288976.3_Silent_p.S149S	p.S97S	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN			4	631	+			97					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Silent	SNP	ENST00000375360.3	37	c.291C>A	CCDS6707.1																																																																																				0.463	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		7	160	7	160	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136307563	136307563	+	Missense_Mutation	SNP	C	C	A	rs281875295		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr9:136307563C>A	ENST00000371929.3	+	17	2456	c.2012C>A	c.(2011-2013)cCa>cAa	p.P671Q	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P640Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P671Q|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	671	Spacer.		P -> L (in TTP; dbSNP:rs281875295). {ECO:0000269|PubMed:16807643}.		cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCACCCGCCCAGACATCACC	0.622																																						ENST00000371929.3																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36	GRCh37	CM062408	ADAMTS13	M		c.(2011-2013)cCa>cAa		ADAM metallopeptidase with thrombospondin type 1 motif, 13							113.0	92.0	99.0					9																	136307563		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136307563C>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2012C>A	9.37:g.136307563C>A	ENSP00000360997:p.Pro671Gln					ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P640Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P671Q|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Intron	p.P671Q	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	17	2456	+			671			Spacer.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.2012C>A	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879136	0.51801	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.69685	-0.42;-0.41;-0.4	5.24	5.24	0.73138	.	.	.	.	.	D	0.85673	0.5751	M	0.91300	3.195	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	0.88581	0.3136	9	0.62326	D	0.03	.	17.3933	0.87439	0.0:1.0:0.0:0.0	.	671;640;671	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	Q	671;671;640	ENSP00000360997:P671Q;ENSP00000347927:P671Q;ENSP00000348997:P640Q	ENSP00000347927:P671Q	P	+	2	0	ADAMTS13	135297384	0.987000	0.35691	0.077000	0.20336	0.102000	0.19082	5.463000	0.66712	2.448000	0.82819	0.591000	0.81541	CCA		0.622	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		6	107	6	107	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26800829	26800829	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:26800829C>A	ENST00000376236.4	+	7	1140	c.685C>A	c.(685-687)Caa>Aaa	p.Q229K	RNA5SP307_ENST00000362863.1_RNA	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	229	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				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						CCCGGAACTACAAATTGGTAA	0.433																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(685-687)Caa>Aaa		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							95.0	95.0	95.0					10																	26800829		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26800829C>A	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.685C>A	10.37:g.26800829C>A	ENSP00000365411:p.Gln229Lys						p.Q229K	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			7	1140	+			229			Ras-associating.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.685C>A	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417031	0.83449	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	T	0.16597	2.33	5.65	5.65	0.86999	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	M	0.65975	2.015	0.80722	D	1	P;D	0.65815	0.888;0.995	P;D	0.66196	0.824;0.942	T	0.02345	-1.1173	10	0.30078	T	0.28	.	19.717	0.96124	0.0:1.0:0.0:0.0	.	229;229	B4E100;Q7Z5R6	.;AB1IP_HUMAN	K	229	ENSP00000365411:Q229K	ENSP00000365411:Q229K	Q	+	1	0	APBB1IP	26840835	1.000000	0.71417	0.335000	0.25508	0.673000	0.39480	5.651000	0.67951	2.661000	0.90470	0.655000	0.94253	CAA		0.433	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		5	101	5	101	---	---	---	---
CCDC7	79741	broad.mit.edu	37	10	32833174	32833174	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:32833174G>T	ENST00000362006.5	+	14	1622		c.e14-1		C10orf68_ENST00000572165.1_Splice_Site|CCDC7_ENST00000277657.6_Splice_Site	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7											NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TTATGTTACAGGAAGATGTCT	0.294																																						ENST00000362006.5																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.e14-1		coiled-coil domain containing 7							66.0	70.0	69.0					10																	32833174		2203	4289	6492	SO:0001630	splice_region_variant	221016							g.chr10:32833174G>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1080-1G>T	10.37:g.32833174G>T						CCDC7_ENST00000277657.6_Splice_Site|C10orf68_ENST00000572165.1_Splice_Site		NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN			14	1622	+		Breast(68;0.000207)|Prostate(175;0.0107)						Q5VW55|Q8IVQ0|Q8NEQ0	Splice_Site	SNP	ENST00000362006.5	37		CCDS7173.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344893	0.24426	.	.	ENSG00000216937	ENST00000277657;ENST00000362006;ENST00000435402	.	.	.	3.19	3.19	0.36642	.	.	.	.	.	.	.	.	.	.	.	0.39433	D	0.967119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.151	0.42794	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC7	32873180	1.000000	0.71417	0.103000	0.21229	0.290000	0.27261	2.978000	0.49305	2.082000	0.62665	0.650000	0.86243	.		0.294	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023	Intron	5	97	5	97	---	---	---	---
ZNF248	57209	broad.mit.edu	37	10	38120875	38120875	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:38120875C>A	ENST00000395867.3	-	6	1958	c.1408G>T	c.(1408-1410)Ggg>Tgg	p.G470W	ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Missense_Mutation_p.G470W|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	470					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(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AAGGATTTCCCACATGCATTA	0.433																																						ENST00000395867.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1408-1410)Ggg>Tgg		zinc finger protein 248							143.0	138.0	140.0					10																	38120875		2203	4300	6503	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38120875C>A	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.1408G>T	10.37:g.38120875C>A	ENSP00000379208:p.Gly470Trp					ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G470W|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA	p.G470W	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN			6	1958	-			470					Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.1408G>T	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	14.07	2.424231	0.43020	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.01051	5.4;5.4	4.44	2.56	0.30785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.133058	0.35067	N	0.003474	T	0.06234	0.0161	M	0.85859	2.78	0.30131	N	0.80478	D	0.89917	1.0	D	0.79784	0.993	T	0.01256	-1.1404	10	0.87932	D	0	.	8.5541	0.33469	0.0:0.8068:0.0:0.1932	.	470	Q8NDW4	ZN248_HUMAN	W	470	ENSP00000379208:G470W;ENSP00000349882:G470W	ENSP00000349882:G470W	G	-	1	0	ZNF248	38160881	0.969000	0.33509	0.998000	0.56505	0.764000	0.43329	2.216000	0.42871	0.603000	0.29913	0.650000	0.86243	GGG		0.433	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		6	116	6	116	---	---	---	---
UNC5B	219699	broad.mit.edu	37	10	73050841	73050841	+	Silent	SNP	C	C	A	rs373608708		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:73050841C>A	ENST00000335350.6	+	9	1685	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	UNC5B_ENST00000373192.4_Silent_p.P412P	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	423					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GTTTCCACCCCGTCAACTTTA	0.597																																						ENST00000335350.6																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1267-1269)ccC>ccA		unc-5 homolog B (C. elegans)							212.0	202.0	206.0					10																	73050841		2203	4300	6503	SO:0001819	synonymous_variant	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050841C>A	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1269C>A	10.37:g.73050841C>A						UNC5B_ENST00000373192.4_Silent_p.P412P	p.P423P	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1685	+			423					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	ENST00000335350.6	37	c.1269C>A	CCDS7309.1																																																																																				0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	279	7	279	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81050862	81050862	+	Silent	SNP	C	C	A	rs149025019	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:81050862C>A	ENST00000334512.5	+	10	1259	c.687C>A	c.(685-687)ccC>ccA	p.P229P	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	229					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGGCTGGCCCCGCTCAGCCCT	0.672																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(685-687)ccC>ccA		zinc finger, MIZ-type containing 1							65.0	58.0	61.0					10																	81050862		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81050862C>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.687C>A	10.37:g.81050862C>A						ZMIZ1_ENST00000478357.1_3'UTR	p.P229P	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		10	1259	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		229					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.687C>A	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	6.996	0.553882	0.13374	.	.	ENSG00000108175	ENST00000372347	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.19046	0.0457	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	5	0.06365	T	0.9	-10.6405	3.7989	0.08750	0.0814:0.2116:0.3141:0.3929	.	.	.	.	S	161	.	ENSP00000361422:R161S	R	+	1	0	ZMIZ1	80720868	0.013000	0.17824	0.000000	0.03702	0.711000	0.40976	-1.018000	0.03626	-3.951000	0.00088	-2.486000	0.00196	CGC		0.672	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		5	79	5	79	---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111633186	111633186	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:111633186C>A	ENST00000502935.1	-	16	1511		c.e16-1		XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000369680.4_Splice_Site					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGTGCCATCCCTTTCCAAAAA	0.458																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.e16-1		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							143.0	126.0	132.0					10																	111633186		2203	4300	6503	SO:0001630	splice_region_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111633186C>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1392-1G>T	10.37:g.111633186C>A						XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000369680.4_Splice_Site				Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	16	1511	-		Breast(234;0.174)							Splice_Site	SNP	ENST00000502935.1	37		CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722856	0.89298	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7374	0.91761	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XPNPEP1	111623176	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.506000	0.81665	2.861000	0.98227	0.655000	0.94253	.		0.458	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2		Intron	5	113	5	113	---	---	---	---
LRRC27	80313	broad.mit.edu	37	10	134165144	134165144	+	Silent	SNP	C	C	A	rs199532296		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr10:134165144C>A	ENST00000368614.3	+	7	1065	c.960C>A	c.(958-960)ccC>ccA	p.P320P	LRRC27_ENST00000368613.4_Silent_p.P320P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_Missense_Mutation_p.P352Q|LRRC27_ENST00000344079.5_Missense_Mutation_p.P352Q|LRRC27_ENST00000368612.1_Silent_p.P258P|LRRC27_ENST00000368610.3_Silent_p.P258P|LRRC27_ENST00000368615.3_Silent_p.P320P|LRRC27_ENST00000432555.2_Silent_p.P193P	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	320								p.P320P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCATCTTACCCGACCTCTTGT	0.502																																						ENST00000392638.2																			2	Substitution - coding silent(2)	p.P320P(2)	lung(2)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(1054-1056)cCg>cAg		leucine rich repeat containing 27							154.0	169.0	164.0					10																	134165144		2203	4300	6503	SO:0001819	synonymous_variant	80313							g.chr10:134165144C>A	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.960C>A	10.37:g.134165144C>A						LRRC27_ENST00000368612.1_Silent_p.P258P|LRRC27_ENST00000368615.3_Silent_p.P320P|LRRC27_ENST00000368613.4_Silent_p.P320P|LRRC27_ENST00000432555.2_Silent_p.P193P|LRRC27_ENST00000344079.5_Missense_Mutation_p.P352Q|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368610.3_Silent_p.P258P|LRRC27_ENST00000368614.3_Silent_p.P320P	p.P352Q			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	8	1250	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	0					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Missense_Mutation	SNP	ENST00000368614.3	37	c.1055C>A	CCDS31316.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968043	0.34754	.	.	ENSG00000148814	ENST00000392638;ENST00000344079	T;T	0.20463	2.07;2.07	4.41	-8.83	0.00806	.	0.000000	0.56097	D	0.000035	T	0.29914	0.0748	.	.	.	0.09310	N	1	D	0.59357	0.985	P	0.57101	0.813	T	0.67933	-0.5542	9	0.59425	D	0.04	-21.2942	11.4033	0.49883	0.0:0.1072:0.4621:0.4307	.	352	Q9C0I9-3	.	Q	352	ENSP00000376413:P352Q;ENSP00000342641:P352Q	ENSP00000342641:P352Q	P	+	2	0	LRRC27	134015134	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.400000	0.01049	-4.364000	0.00054	-0.258000	0.10820	CCG		0.502	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		9	244	9	244	---	---	---	---
ST5	6764	broad.mit.edu	37	11	8737329	8737329	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:8737329C>A	ENST00000534127.1	-	9	2051	c.1666G>T	c.(1666-1668)Ggg>Tgg	p.G556W	ST5_ENST00000357665.1_Missense_Mutation_p.G556W|ST5_ENST00000526757.1_Missense_Mutation_p.G136W|ST5_ENST00000526099.1_Missense_Mutation_p.G69W|ST5_ENST00000530438.1_Missense_Mutation_p.G136W|ST5_ENST00000313726.6_Missense_Mutation_p.G556W|ST5_ENST00000530991.1_Missense_Mutation_p.G28W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	556					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GACCAGTTCCCACTGCGCAGG	0.622																																						ENST00000534127.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1666-1668)Ggg>Tgg		suppression of tumorigenicity 5							86.0	73.0	77.0					11																	8737329		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8737329C>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1666G>T	11.37:g.8737329C>A	ENSP00000433528:p.Gly556Trp					ST5_ENST00000530991.1_Missense_Mutation_p.G28W|ST5_ENST00000313726.6_Missense_Mutation_p.G556W|ST5_ENST00000526099.1_Missense_Mutation_p.G69W|ST5_ENST00000530438.1_Missense_Mutation_p.G136W|ST5_ENST00000526757.1_Missense_Mutation_p.G136W|ST5_ENST00000357665.1_Missense_Mutation_p.G556W	p.G556W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	9	2051	-			556					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.1666G>T	CCDS7791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.068885|4.068885	0.76301|0.76301	.|.	.|.	ENSG00000166444|ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593;ENST00000528527;ENST00000531060;ENST00000526057;ENST00000528196|ENST00000527510	T;T;T;T;T;T;T;T;T;T;T;T|.	0.10382|.	2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88;2.88|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.397097|.	0.28940|.	N|.	0.013653|.	T|T	0.68403|0.68403	0.2997|0.2997	L|L	0.44542|0.44542	1.39|1.39	0.41178|0.41178	D|D	0.986214|0.986214	B;B;B|.	0.24618|.	0.024;0.01;0.107|.	B;B;B|.	0.22386|.	0.006;0.02;0.039|.	T|T	0.63655|0.63655	-0.6588|-0.6588	10|6	0.66056|0.31617	D|T	0.02|0.26	-22.5848|-22.5848	19.6192|19.6192	0.95649|0.95649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	69;136;556|.	B4DDL8;P78524-2;P78524|.	.;.;ST5_HUMAN|.	W|L	136;556;556;28;556;69;136;28;166;28;28;45;28;136|129	ENSP00000435097:G136W;ENSP00000433528:G556W;ENSP00000319678:G556W;ENSP00000432887:G28W;ENSP00000350294:G556W;ENSP00000436808:G69W;ENSP00000436802:G136W;ENSP00000433588:G28W;ENSP00000437096:G28W;ENSP00000431580:G28W;ENSP00000433858:G45W;ENSP00000431564:G136W|.	ENSP00000319678:G556W|ENSP00000434701:W129L	G|W	-|-	1|2	0|0	ST5|ST5	8693905|8693905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.495000|3.495000	0.53280|0.53280	2.640000|2.640000	0.89533|0.89533	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.622	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		5	107	5	107	---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14808096	14808096	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:14808096G>T	ENST00000282096.4	+	3	1496	c.1143G>T	c.(1141-1143)cgG>cgT	p.R381R	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	381					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CCTCTCTACGGAGTATTAGTA	0.438																																						ENST00000282096.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1141-1143)cgG>cgT		phosphodiesterase 3B, cGMP-inhibited							181.0	191.0	188.0					11																	14808096		2200	4294	6494	SO:0001819	synonymous_variant	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14808096G>T	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1143G>T	11.37:g.14808096G>T						PDE3B_ENST00000455098.2_Intron	p.R381R	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN			3	1496	+			381					B7ZM37|O00639|Q14408|Q6SEI4	Silent	SNP	ENST00000282096.4	37	c.1143G>T	CCDS7817.1																																																																																				0.438	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922		7	225	7	225	---	---	---	---
SLC1A2	6506	broad.mit.edu	37	11	35333904	35333904	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:35333904C>A	ENST00000278379.3	-	4	684	c.402G>T	c.(400-402)ctG>ctT	p.L134L	SLC1A2_ENST00000395750.1_Silent_p.L125L|SLC1A2_ENST00000395753.1_Silent_p.L125L|SLC1A2_ENST00000606205.1_Silent_p.L134L	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	134					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GAATGACCCCCAGTACTGCAG	0.547																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	ENST00000278379.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24						c.(400-402)ctG>ctT		solute carrier family 1 (glial high affinity glutamate transporter), member 2	L-Glutamic Acid(DB00142)						175.0	162.0	166.0					11																	35333904		2202	4298	6500	SO:0001819	synonymous_variant	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35333904C>A	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.402G>T	11.37:g.35333904C>A						SLC1A2_ENST00000395750.1_Silent_p.L125L|SLC1A2_ENST00000606205.1_Silent_p.L134L|SLC1A2_ENST00000395753.1_Silent_p.L125L	p.L134L	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		4	684	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	134					B4DQE9|Q14417|Q541G6|U3KQQ4	Silent	SNP	ENST00000278379.3	37	c.402G>T	CCDS31459.1																																																																																				0.547	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		7	163	7	163	---	---	---	---
OR5B21	219968	broad.mit.edu	37	11	58275576	58275576	+	Start_Codon_SNP	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:58275576C>A	ENST00000360374.2	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	1						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)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTATTCTCCATTGTGGCCA	0.413																																						ENST00000360374.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1-3)atG>atT		olfactory receptor, family 5, subfamily B, member 21							26.0	27.0	27.0					11																	58275576		2197	4292	6489	SO:0001582	initiator_codon_variant	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275576C>A		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.3G>T	11.37:g.58275576C>A	ENSP00000353537:p.Met1Ile						p.M1I	NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN			1	2	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	1						Translation_Start_Site	SNP	ENST00000360374.2	37	c.3G>T	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200452	0.38905	.	.	ENSG00000198283	ENST00000360374	T	0.00995	5.46	4.78	4.78	0.61160	.	0.000000	0.41500	U	0.000877	T	0.01489	0.0048	.	.	.	0.80722	D	1	P	0.35872	0.525	B	0.38500	0.275	T	0.67511	-0.5652	9	0.54805	T	0.06	-11.8902	13.4936	0.61411	0.0:1.0:0.0:0.0	.	1	A6NL26	OR5BL_HUMAN	I	1	ENSP00000353537:M1I	ENSP00000353537:M1I	M	-	3	0	OR5B21	58032152	.	.	0.998000	0.56505	0.262000	0.26303	.	.	2.639000	0.89480	0.655000	0.94253	ATG		0.413	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218	Missense_Mutation	4	39	4	39	---	---	---	---
CD6	923	broad.mit.edu	37	11	60785254	60785254	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:60785254C>A	ENST00000313421.7	+	11	1792	c.1606C>A	c.(1606-1608)Cac>Aac	p.H536N	CD6_ENST00000352009.5_Missense_Mutation_p.H504N|CD6_ENST00000452451.2_Missense_Mutation_p.H495N|CD6_ENST00000346437.4_Missense_Mutation_p.H463N|CD6_ENST00000344028.5_Missense_Mutation_p.H504N	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	536					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GCATGCCTCCCACATCCCAAC	0.542																																					Pancreas(169;904 2017 4767 38890 42505)	ENST00000313421.7																			0				endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						c.(1606-1608)Cac>Aac		CD6 molecule							83.0	86.0	85.0					11																	60785254		2203	4299	6502	SO:0001583	missense	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785254C>A		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1606C>A	11.37:g.60785254C>A	ENSP00000323280:p.His536Asn					CD6_ENST00000344028.5_Missense_Mutation_p.H504N|CD6_ENST00000352009.5_Missense_Mutation_p.H504N|CD6_ENST00000452451.2_Missense_Mutation_p.H495N|CD6_ENST00000346437.4_Missense_Mutation_p.H463N	p.H536N	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN			11	1792	+			536					A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	ENST00000313421.7	37	c.1606C>A	CCDS7999.1	.	.	.	.	.	.	.	.	.	.	C	1.385	-0.582471	0.03827	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T	0.01265	5.09;5.09;5.09;5.21;5.08;5.09	4.95	1.93	0.25924	.	3.424560	0.00714	N	0.000855	T	0.00875	0.0029	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.39840	-0.9594	10	0.37606	T	0.19	.	3.951	0.09369	0.1652:0.5847:0.16:0.0901	.	495;504;536;536	P30203-5;P30203-4;P30203;Q8N4Q7	.;.;CD6_HUMAN;.	N	504;463;536;403;495;504	ENSP00000344108:H504N;ENSP00000345566:H463N;ENSP00000323280:H536N;ENSP00000410638:H403N;ENSP00000390676:H495N;ENSP00000340628:H504N	ENSP00000323280:H536N	H	+	1	0	CD6	60541830	0.000000	0.05858	0.001000	0.08648	0.350000	0.29205	-0.603000	0.05674	0.659000	0.30945	0.591000	0.81541	CAC		0.542	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725		6	116	6	116	---	---	---	---
SLC22A25	387601	broad.mit.edu	37	11	62996946	62996946	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:62996946G>T	ENST00000306494.6	-	1	178	c.179C>A	c.(178-180)cCt>cAt	p.P60H	SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000403374.2_5'Flank|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTCATTGTCAGGGATAGTGTC	0.488																																						ENST00000306494.6																			0				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						c.(178-180)cCt>cAt		solute carrier family 22, member 25							158.0	145.0	149.0					11																	62996946		2201	4298	6499	SO:0001583	missense	387601				transmembrane transport	integral to membrane		g.chr11:62996946G>T	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.179C>A	11.37:g.62996946G>T	ENSP00000307443:p.Pro60His					SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	p.P60H	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN			1	178	-			60						Missense_Mutation	SNP	ENST00000306494.6	37	c.179C>A	CCDS31592.1	.	.	.	.	.	.	.	.	.	.	G	7.743	0.701611	0.15172	.	.	ENSG00000196600	ENST00000306494;ENST00000451441	T	0.36520	1.25	3.81	2.89	0.33648	.	0.638008	0.12957	U	0.425309	T	0.23611	0.0571	N	0.11560	0.145	0.09310	N	1	P;P	0.46952	0.79;0.887	P;P	0.45753	0.492;0.492	T	0.05767	-1.0865	10	0.56958	D	0.05	.	7.7741	0.29026	0.1228:0.0:0.8772:0.0	.	58;60	A4IF29;Q6T423	.;S22AP_HUMAN	H	60	ENSP00000307443:P60H	ENSP00000307443:P60H	P	-	2	0	SLC22A25	62753522	0.000000	0.05858	0.247000	0.24249	0.018000	0.09664	0.014000	0.13333	0.726000	0.32339	0.472000	0.43445	CCT		0.488	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383519.3	NM_199352		6	101	6	101	---	---	---	---
KAT5	10524	broad.mit.edu	37	11	65484372	65484372	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:65484372A>G	ENST00000377046.3	+	11	1356	c.1084A>G	c.(1084-1086)Acg>Gcg	p.T362A	KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A|KAT5_ENST00000341318.4_Missense_Mutation_p.T395A	NM_006388.3	NP_006379.2	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	362	MYST-type HAT.				androgen receptor signaling pathway (GO:0030521)|cellular response to estradiol stimulus (GO:0071392)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|double-strand break repair (GO:0006302)|histone acetylation (GO:0016573)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of growth (GO:0040008)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|repressing transcription factor binding (GO:0070491)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GAAAGAATCAACGGAAGACTA	0.592																																						ENST00000341318.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						c.(1183-1185)Acg>Gcg		K(lysine) acetyltransferase 5							153.0	143.0	146.0					11																	65484372		2201	4297	6498	SO:0001583	missense	10524				androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity	g.chr11:65484372A>G	U74667	CCDS8109.1, CCDS8110.1, CCDS31610.1, CCDS55771.1	11q13	2013-01-10	2008-07-04	2008-07-04	ENSG00000172977	ENSG00000172977		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	5275	protein-coding gene	gene with protein product	"""Tat interacting protein, 60kDa"", ""K-acetyltransferase 5"""	601409	"""HIV-1 Tat interactive protein, 60kDa"""	HTATIP		8607265	Standard	NM_006388		Approved	TIP60, PLIP, cPLA2, HTATIP1, ESA1, ZC2HC5	uc001ofk.3	Q92993	OTTHUMG00000166617	ENST00000377046.3:c.1084A>G	11.37:g.65484372A>G	ENSP00000366245:p.Thr362Ala					KAT5_ENST00000377046.3_Missense_Mutation_p.T362A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A	p.T395A	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN			10	1417	+			362					B4E3C7|C9JL99|O95624|Q13430|Q17RW5|Q561W3|Q6GSE8|Q9BWK7	Missense_Mutation	SNP	ENST00000377046.3	37	c.1183A>G	CCDS31610.1	.	.	.	.	.	.	.	.	.	.	A	2.124	-0.400657	0.04865	.	.	ENSG00000172977	ENST00000377046;ENST00000352980;ENST00000341318;ENST00000530446;ENST00000534650	T;T;T;T	0.41065	1.02;1.04;1.01;1.04	5.58	5.58	0.84498	Acyl-CoA N-acyltransferase (2);MOZ/SAS-like protein (1);	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	N	0.02973	-0.45	0.80722	D	1	B;B;B;B	0.31548	0.053;0.328;0.042;0.094	B;B;B;B	0.36186	0.145;0.219;0.051;0.206	T	0.18681	-1.0329	10	0.02654	T	1	-10.3484	13.7037	0.62624	1.0:0.0:0.0:0.0	.	343;395;310;362	B4E3C7;Q92993-3;Q92993-2;Q92993	.;.;.;KAT5_HUMAN	A	362;310;395;343;151	ENSP00000366245:T362A;ENSP00000344955:T310A;ENSP00000340330:T395A;ENSP00000434765:T343A	ENSP00000340330:T395A	T	+	1	0	KAT5	65240948	0.952000	0.32445	0.371000	0.25978	0.112000	0.19704	4.209000	0.58493	2.131000	0.65755	0.533000	0.62120	ACG		0.592	KAT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390866.2	NM_006388		22	104	22	104	---	---	---	---
SF3B2	10992	broad.mit.edu	37	11	65820563	65820563	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:65820563C>A	ENST00000322535.6	+	3	295	c.246C>A	c.(244-246)ccC>ccA	p.P82P	SF3B2_ENST00000528302.1_Silent_p.P82P|snoU13_ENST00000459530.1_RNA	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	82					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.P82P(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CTCCACCTCCCATGTCGGCAC	0.488																																						ENST00000528302.1																			1	Substitution - coding silent(1)	p.P82P(1)	lung(1)	breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(244-246)ccC>ccA		splicing factor 3b, subunit 2, 145kDa							157.0	163.0	161.0					11																	65820563		2201	4296	6497	SO:0001819	synonymous_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65820563C>A	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.246C>A	11.37:g.65820563C>A						SF3B2_ENST00000322535.6_Silent_p.P82P	p.P82P			Q13435	SF3B2_HUMAN			3	300	+			82					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Silent	SNP	ENST00000322535.6	37	c.246C>A	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467477	0.26335	.	.	ENSG00000087365	ENST00000533421	.	.	.	4.55	0.249	0.15531	.	0.191744	0.47093	D	0.000256	T	0.57286	0.2043	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54357	-0.8306	6	0.87932	D	0	-8.2842	4.1798	0.10369	0.0:0.5229:0.1683:0.3089	.	.	.	.	Q	33	.	ENSP00000434288:P33Q	P	+	2	0	SF3B2	65577139	0.917000	0.31117	0.992000	0.48379	0.975000	0.68041	-0.467000	0.06664	-0.038000	0.13624	0.655000	0.94253	CCA		0.488	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			6	155	6	155	---	---	---	---
CCDC87	55231	broad.mit.edu	37	11	66358464	66358464	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:66358464G>T	ENST00000333861.3	-	1	2090	c.2023C>A	c.(2023-2025)Cac>Aac	p.H675N	CCS_ENST00000533244.1_5'Flank|CCS_ENST00000310190.4_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	675					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGAATTTTGTGGGGTTCTCCC	0.512																																						ENST00000333861.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(2023-2025)Cac>Aac		coiled-coil domain containing 87							50.0	49.0	49.0					11																	66358464		2200	4295	6495	SO:0001583	missense	55231							g.chr11:66358464G>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.2023C>A	11.37:g.66358464G>T	ENSP00000328487:p.His675Asn						p.H675N	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN			1	2090	-			675					Q8NE76	Missense_Mutation	SNP	ENST00000333861.3	37	c.2023C>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	G	3.167	-0.170788	0.06421	.	.	ENSG00000182791	ENST00000333861	T	0.30981	1.51	3.93	-4.21	0.03812	.	1.343740	0.05423	N	0.544543	T	0.22627	0.0546	L	0.54323	1.7	0.09310	N	1	B	0.33073	0.396	B	0.29176	0.099	T	0.21552	-1.0242	10	0.26408	T	0.33	.	4.8693	0.13624	0.57:0.0:0.26:0.1701	.	675	Q9NVE4	CCD87_HUMAN	N	675	ENSP00000328487:H675N	ENSP00000328487:H675N	H	-	1	0	CCDC87	66115040	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	0.350000	0.20079	-0.612000	0.05701	0.462000	0.41574	CAC		0.512	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		5	84	5	84	---	---	---	---
FOLR1	2348	broad.mit.edu	37	11	71903276	71903276	+	Missense_Mutation	SNP	G	G	T	rs566120497		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:71903276G>T	ENST00000393679.1	+	2	495	c.59G>T	c.(58-60)gGg>gTg	p.G20V	FOLR1_ENST00000393676.3_Missense_Mutation_p.G20V|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000312293.4_Missense_Mutation_p.G20V|FOLR1_ENST00000393681.2_Missense_Mutation_p.G20V			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	20					cell death (GO:0008219)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|receptor-mediated endocytosis (GO:0006898)	anchored component of external side of plasma membrane (GO:0031362)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|receptor activity (GO:0004872)			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14					Methotrexate(DB00563)	GCTGTAGTAGGGGAGGCTCAG	0.557																																						ENST00000393679.1																			0				cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(58-60)gGg>gTg		folate receptor 1 (adult)							132.0	116.0	121.0					11																	71903276		2200	4293	6493	SO:0001583	missense	2348				cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	g.chr11:71903276G>T	J05013	CCDS8211.1	11q13.3-q14.1	2010-04-09			ENSG00000110195	ENSG00000110195			3791	protein-coding gene	gene with protein product		136430		FOLR		1717147	Standard	NM_000802		Approved		uc001osa.2	P15328		ENST00000393679.1:c.59G>T	11.37:g.71903276G>T	ENSP00000377284:p.Gly20Val					FOLR1_ENST00000312293.4_Missense_Mutation_p.G20V|FOLR1_ENST00000393681.2_Missense_Mutation_p.G20V|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.G20V	p.G20V			P15328	FOLR1_HUMAN			2	495	+			20					Q53EW2|Q6FGT8|Q6LC90|Q9UCT2	Missense_Mutation	SNP	ENST00000393679.1	37	c.59G>T	CCDS8211.1	.	.	.	.	.	.	.	.	.	.	-	13.52	2.262657	0.39995	.	.	ENSG00000110195	ENST00000312293;ENST00000393681;ENST00000393679;ENST00000393676	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	4.36	2.43	0.29744	.	0.794205	0.10383	N	0.681305	T	0.58666	0.2138	N	0.08118	0	0.09310	N	0.999998	D	0.63880	0.993	P	0.54856	0.762	T	0.47649	-0.9101	10	0.22706	T	0.39	-31.8038	7.3701	0.26796	0.0:0.1864:0.6203:0.1933	.	20	P15328	FOLR1_HUMAN	V	20	ENSP00000308137:G20V;ENSP00000377286:G20V;ENSP00000377284:G20V;ENSP00000377281:G20V	ENSP00000308137:G20V	G	+	2	0	FOLR1	71580924	0.001000	0.12720	0.002000	0.10522	0.016000	0.09150	0.808000	0.27154	0.735000	0.32537	-0.188000	0.12872	GGG		0.557	FOLR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396773.1	NM_016725		6	104	6	104	---	---	---	---
TRPC6	7225	broad.mit.edu	37	11	101362373	101362373	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:101362373C>A	ENST00000344327.3	-	3	1466	c.1042G>T	c.(1042-1044)Ggg>Tgg	p.G348W	TRPC6_ENST00000532133.1_Missense_Mutation_p.G348W|TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.G348W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	348					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.G348W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCAACATCCCCATTCAGAATG	0.428																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			1	Substitution - Missense(1)	p.G348W(1)	lung(1)	autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1042-1044)Ggg>Tgg		transient receptor potential cation channel, subfamily C, member 6							129.0	127.0	128.0					11																	101362373		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101362373C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1042G>T	11.37:g.101362373C>A	ENSP00000340913:p.Gly348Trp					TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.G348W|TRPC6_ENST00000360497.4_Missense_Mutation_p.G348W	p.G348W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	3	1466	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	348					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1042G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758666	0.69763	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000360497	T;T;T	0.64803	-0.12;-0.12;-0.12	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.82107	0.4965	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79761	-0.1667	10	0.41790	T	0.15	-2.8766	20.8597	0.99761	0.0:1.0:0.0:0.0	.	348;348	Q9Y210-3;Q9Y210	.;TRPC6_HUMAN	W	348	ENSP00000340913:G348W;ENSP00000435574:G348W;ENSP00000353687:G348W	ENSP00000340913:G348W	G	-	1	0	TRPC6	100867583	1.000000	0.71417	0.990000	0.47175	0.124000	0.20399	7.731000	0.84895	2.937000	0.99478	0.650000	0.86243	GGG		0.428	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		5	104	5	104	---	---	---	---
MMP27	64066	broad.mit.edu	37	11	102563708	102563708	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:102563708C>A	ENST00000260229.4	-	9	1349	c.1258G>T	c.(1258-1260)Gga>Tga	p.G420*		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	420					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	ATACTGATTCCAGGAAAGTGT	0.428																																						ENST00000260229.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1258-1260)Gga>Tga		matrix metallopeptidase 27							218.0	204.0	209.0					11																	102563708		2203	4299	6502	SO:0001587	stop_gained	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102563708C>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.1258G>T	11.37:g.102563708C>A	ENSP00000260229:p.Gly420*						p.G420*	NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	9	1349	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	420			Hemopexin-like 3.		Q6UWK6	Nonsense_Mutation	SNP	ENST00000260229.4	37	c.1258G>T	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.894474	0.72639	.	.	ENSG00000137675	ENST00000260229	.	.	.	5.53	4.62	0.57501	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.4323	0.55581	0.0:0.8603:0.0:0.1397	.	.	.	.	X	420	.	ENSP00000260229:G420X	G	-	1	0	MMP27	102068918	1.000000	0.71417	0.969000	0.41365	0.008000	0.06430	4.519000	0.60517	1.349000	0.45751	0.650000	0.86243	GGA		0.428	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122		6	206	6	206	---	---	---	---
GUCY1A2	2977	broad.mit.edu	37	11	106558382	106558382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:106558382C>A	ENST00000526355.2	-	8	2560	c.2092G>T	c.(2092-2094)Gag>Tag	p.E698*	GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E729*|GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E719*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	698					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GTCCTTACCTCCAGGAAATAG	0.448																																						ENST00000526355.2																			0				breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74						c.(2092-2094)Gag>Tag		guanylate cyclase 1, soluble, alpha 2							140.0	142.0	141.0					11																	106558382		2201	4298	6499	SO:0001587	stop_gained	2977				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	g.chr11:106558382C>A	X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.2092G>T	11.37:g.106558382C>A	ENSP00000431245:p.Glu698*					GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E719*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E729*	p.E698*	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	8	2560	-		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)						A1L4C4|B7ZLT5	Nonsense_Mutation	SNP	ENST00000526355.2	37	c.2092G>T	CCDS8335.1	.	.	.	.	.	.	.	.	.	.	C	41	9.052562	0.99050	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	.	.	.	5.38	5.38	0.77491	.	0.000000	0.45606	U	0.000352	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	18.4699	0.90769	0.0:1.0:0.0:0.0	.	.	.	.	X	698;729;719	.	ENSP00000282249:E729X	E	-	1	0	GUCY1A2	106063592	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.385000	0.79763	2.689000	0.91719	0.305000	0.20034	GAG		0.448	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389003.2			7	191	7	191	---	---	---	---
DSCAML1	57453	broad.mit.edu	37	11	117301514	117301514	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:117301514G>T	ENST00000321322.6	-	32	5791	c.5790C>A	c.(5788-5790)acC>acA	p.T1930T	DSCAML1_ENST00000527706.1_Silent_p.T1660T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1870					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGGTGAGGCGGTAAAGCGGC	0.612																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(5788-5790)acC>acA		Down syndrome cell adhesion molecule like 1							242.0	200.0	214.0					11																	117301514		2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117301514G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5790C>A	11.37:g.117301514G>T						DSCAML1_ENST00000527706.1_Silent_p.T1660T	p.T1930T	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	32	5791	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1870					Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.5790C>A	CCDS8384.1																																																																																				0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		5	215	5	215	---	---	---	---
BSX	390259	broad.mit.edu	37	11	122850125	122850125	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:122850125C>A	ENST00000343035.2	-	2	351	c.303G>T	c.(301-303)gcG>gcT	p.A101A		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	101					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCGGCAGCTCCGCGTGCTGCG	0.657																																						ENST00000343035.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10						c.(301-303)gcG>gcT		brain-specific homeobox							28.0	35.0	33.0					11																	122850125		2001	4177	6178	SO:0001819	synonymous_variant	390259							g.chr11:122850125C>A		CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.303G>T	11.37:g.122850125C>A							p.A101A	NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)	2	351	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	101						Silent	SNP	ENST00000343035.2	37	c.303G>T	CCDS41728.1																																																																																				0.657	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169		4	62	4	62	---	---	---	---
PATE2	399967	broad.mit.edu	37	11	125648648	125648648	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:125648648C>A	ENST00000358524.3	-	1	66	c.21G>T	c.(19-21)ctG>ctT	p.L7L	PATE2_ENST00000436890.2_Silent_p.L7L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	7						extracellular space (GO:0005615)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AGACTGTGCCCAGGAGAAAGA	0.517																																						ENST00000358524.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						c.(19-21)ctG>ctT		prostate and testis expressed 2							87.0	86.0	86.0					11																	125648648		2201	4299	6500	SO:0001819	synonymous_variant	399967					extracellular space		g.chr11:125648648C>A	AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"""PATE family"""	32249	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 38"""	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.21G>T	11.37:g.125648648C>A						PATE2_ENST00000436890.2_Silent_p.L7L	p.L7L	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN			1	66	-			7					B2RNZ2|B7ZMG4	Silent	SNP	ENST00000358524.3	37	c.21G>T	CCDS8465.1																																																																																				0.517	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555		5	74	5	74	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7293961	7293961	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:7293961C>A	ENST00000266546.6	+	9	1897	c.1447C>A	c.(1447-1449)Cga>Aga	p.R483R	CLSTN3_ENST00000537408.1_Silent_p.R495R	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	483					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCACCCACCCCGAAGGGAGCC	0.572											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(1483-1485)Cga>Aga		calsyntenin 3							219.0	174.0	189.0					12																	7293961		2203	4300	6503	SO:0001819	synonymous_variant	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7293961C>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1447C>A	12.37:g.7293961C>A			OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	CLSTN3_ENST00000266546.6_Silent_p.R483R	p.R495R			Q9BQT9	CSTN3_HUMAN			8	2021	+			483					D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	ENST00000266546.6	37	c.1483C>A	CCDS8575.1																																																																																				0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		6	240	6	240	---	---	---	---
PRR4	11272	broad.mit.edu	37	12	10999752	10999752	+	Silent	SNP	G	G	T	rs78191133		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:10999752G>T	ENST00000228811.4	-	3	352	c.315C>A	c.(313-315)ccC>ccA	p.P105P	PRR4_ENST00000540107.1_Missense_Mutation_p.P48T|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	105					retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AAGGAAATCGGGGTAGAGAGA	0.542																																						ENST00000540107.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						c.(142-144)Ccg>Acg		proline rich 4 (lacrimal)							223.0	221.0	221.0					12																	10999752		1999	4171	6170	SO:0001819	synonymous_variant	11272				visual perception	extracellular space		g.chr12:10999752G>T		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.315C>A	12.37:g.10999752G>T						PRR4_ENST00000544994.1_Intron|PRR4_ENST00000228811.4_Silent_p.P105P|PRR4_ENST00000536668.1_5'UTR	p.P48T			Q16378	PROL4_HUMAN			3	179	-			0			Pro-rich.		A8KA69|F5H0D7|Q8NFB3	Missense_Mutation	SNP	ENST00000228811.4	37	c.142C>A	CCDS41756.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.540|1.540	-0.542060|-0.542060	0.04053|0.04053	.|.	.|.	ENSG00000111215|ENSG00000111215	ENST00000431566|ENST00000540107	.|T	.|0.09630	.|2.96	1.2|1.2	0.265|0.265	0.15612|0.15612	.|.	0.000000|0.000000	0.31734|0.31734	U|U	0.007145|0.007145	T|T	0.10895|0.10895	0.0266|0.0266	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.14952|0.14952	-1.0454|-1.0454	6|7	0.66056|0.87932	D|D	0.02|0	.|.	3.514|3.514	0.07718|0.07718	0.2742:0.0:0.7258:0.0|0.2742:0.0:0.7258:0.0	.|.	.|.	.|.	.|.	H|T	89|48	.|ENSP00000443939:P48T	ENSP00000405056:P89H|ENSP00000443939:P48T	P|P	-|-	2|1	0|0	PRR4|PRR4	10891019|10891019	0.001000|0.001000	0.12720|0.12720	0.004000|0.004000	0.12327|0.12327	0.005000|0.005000	0.04900|0.04900	0.349000|0.349000	0.20055|0.20055	0.064000|0.064000	0.16427|0.16427	0.411000|0.411000	0.27672|0.27672	CCC|CCG		0.542	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1	NM_007244		8	214	8	214	---	---	---	---
FAM60A	58516	broad.mit.edu	37	12	31435764	31435764	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:31435764C>A	ENST00000337682.4	-	6	916	c.548G>T	c.(547-549)gGg>gTg	p.G183V	FAM60A_ENST00000395766.1_Missense_Mutation_p.G35V|FAM60A_ENST00000539409.1_Missense_Mutation_p.G35V|FAM60A_ENST00000542983.1_Missense_Mutation_p.G35V|FAM60A_ENST00000454658.2_Missense_Mutation_p.G183V	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	183					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GAGGACTTCCCCAAAACGGCC	0.428																																						ENST00000337682.4																			0				large_intestine(1)|lung(2)	3						c.(547-549)gGg>gTg		family with sequence similarity 60, member A							57.0	55.0	55.0					12																	31435764		2203	4300	6503	SO:0001583	missense	58516							g.chr12:31435764C>A	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.548G>T	12.37:g.31435764C>A	ENSP00000337477:p.Gly183Val					FAM60A_ENST00000539409.1_Missense_Mutation_p.G35V|FAM60A_ENST00000454658.2_Missense_Mutation_p.G183V|FAM60A_ENST00000542983.1_Missense_Mutation_p.G35V|FAM60A_ENST00000395766.1_Missense_Mutation_p.G35V	p.G183V	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN			6	916	-	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)		183					D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	c.548G>T	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399288	0.83120	.	.	ENSG00000139146	ENST00000539409;ENST00000337682;ENST00000454658;ENST00000398170;ENST00000395766;ENST00000542983	T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26	4.53	4.53	0.55603	.	0.049461	0.85682	D	0.000000	T	0.76933	0.4057	M	0.77486	2.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.992	T	0.81393	-0.0953	10	0.87932	D	0	-22.3677	17.2544	0.87051	0.0:1.0:0.0:0.0	.	183;224	Q9NP50;B7Z287	FA60A_HUMAN;.	V	35;183;183;224;35;35	ENSP00000443697:G35V;ENSP00000337477:G183V;ENSP00000393279:G183V;ENSP00000379115:G35V;ENSP00000439952:G35V	ENSP00000337477:G183V	G	-	2	0	FAM60A	31327031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.275000	0.78548	2.055000	0.61198	0.591000	0.81541	GGG		0.428	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238		5	59	5	59	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51054041	51054041	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:51054041C>A	ENST00000301180.5	+	4	400	c.366C>A	c.(364-366)ccC>ccA	p.P122P		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	122	DMAP-interaction.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TGGCTTTGCCCATGCCAACCA	0.448																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(364-366)ccC>ccA		DIP2 disco-interacting protein 2 homolog B (Drosophila)							150.0	137.0	141.0					12																	51054041		2203	4300	6503	SO:0001819	synonymous_variant	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51054041C>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.366C>A	12.37:g.51054041C>A							p.P122P	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			4	400	+			122					Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	c.366C>A	CCDS31799.1																																																																																				0.448	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		5	68	5	68	---	---	---	---
METTL7A	25840	broad.mit.edu	37	12	51318927	51318927	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:51318927T>C	ENST00000548553.1	+	2	1087	c.106T>C	c.(106-108)Ttc>Ctc	p.F36L	METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	36						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAAAAAATGGTTCCCCTACTT	0.488																																						ENST00000548553.1																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						c.(106-108)Ttc>Ctc		methyltransferase like 7A							126.0	114.0	118.0					12																	51318927		2203	4300	6503	SO:0001583	missense	25840					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	g.chr12:51318927T>C		CCDS8804.1	12q13.12	2013-06-20			ENSG00000185432	ENSG00000185432			24550	protein-coding gene	gene with protein product						12975309	Standard	XM_006719332		Approved	DKFZP586A0522	uc001rxb.3	Q9H8H3	OTTHUMG00000169484	ENST00000548553.1:c.106T>C	12.37:g.51318927T>C	ENSP00000448785:p.Phe36Leu					METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L	p.F36L			Q9H8H3	MET7A_HUMAN			2	1087	+			36					Q9H7R3|Q9UHZ7|Q9Y422	Missense_Mutation	SNP	ENST00000548553.1	37	c.106T>C	CCDS8804.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708004	0.30322	.	.	ENSG00000185432	ENST00000548553;ENST00000550502;ENST00000332160;ENST00000433599	T;T;T	0.23147	2.25;1.92;2.25	5.0	3.84	0.44239	.	0.268823	0.42548	N	0.000687	T	0.27419	0.0673	M	0.69523	2.12	0.40179	D	0.977262	B;B	0.12013	0.001;0.005	B;B	0.20577	0.003;0.03	T	0.09509	-1.0671	10	0.49607	T	0.09	-0.4382	7.859	0.29499	0.0:0.1604:0.0:0.8396	.	36;36	B4DDW1;Q9H8H3	.;MET7A_HUMAN	L	36	ENSP00000448785:F36L;ENSP00000450239:F36L;ENSP00000331787:F36L	ENSP00000331787:F36L	F	+	1	0	METTL7A	49605194	0.918000	0.31147	0.595000	0.28798	0.152000	0.21847	2.092000	0.41700	1.036000	0.39998	0.533000	0.62120	TTC		0.488	METTL7A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404294.2	NM_014033		17	68	17	68	---	---	---	---
GPR84	53831	broad.mit.edu	37	12	54756831	54756831	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:54756831C>A	ENST00000551809.1	-	1	1440	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						GATGAGTCCCCTTCCAGGGTC	0.547																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(805-807)Ggg>Tgg		G protein-coupled receptor 84							135.0	140.0	138.0					12																	54756831		2203	4300	6503	SO:0001583	missense	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756831C>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.805G>T	12.37:g.54756831C>A	ENSP00000450310:p.Gly269Trp					RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA	p.G269W			Q9NQS5	GPR84_HUMAN			1	1440	-			269					B6V9G7	Missense_Mutation	SNP	ENST00000551809.1	37	c.805G>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	C	8.315	0.823102	0.16678	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.61980	0.06;0.06	4.88	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	0.528223	0.18343	N	0.144124	T	0.36468	0.0968	N	0.05124	-0.11	0.09310	N	1	B	0.10296	0.003	B	0.12837	0.008	T	0.26677	-1.0096	10	0.54805	T	0.06	-3.3035	6.7169	0.23308	0.147:0.683:0.0:0.1699	.	269	Q9NQS5	GPR84_HUMAN	W	269	ENSP00000267015:G269W;ENSP00000450310:G269W	ENSP00000267015:G269W	G	-	1	0	GPR84	53043098	0.001000	0.12720	0.597000	0.28824	0.979000	0.70002	0.611000	0.24268	0.566000	0.29273	0.561000	0.74099	GGG		0.547	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	208	7	208	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59274658	59274658	+	Silent	SNP	C	C	A	rs368520634		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:59274658C>A	ENST00000320743.3	-	13	1792	c.1506G>T	c.(1504-1506)acG>acT	p.T502T	LRIG3_ENST00000379141.4_Silent_p.T442T	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	502	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T502T(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGGCTGAACCGTGATCTGGG	0.423			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	1	Substitution - coding silent(1)	p.T502T(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1504-1506)acG>acT		leucine-rich repeats and immunoglobulin-like domains 3							154.0	162.0	160.0					12																	59274658		2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274658C>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1506G>T	12.37:g.59274658C>A						LRIG3_ENST00000379141.4_Silent_p.T442T	p.T502T	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1792	-			502			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1506G>T	CCDS8960.1																																																																																				0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		6	185	6	185	---	---	---	---
BEST3	144453	broad.mit.edu	37	12	70091546	70091546	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:70091546A>T	ENST00000330891.5	-	2	259	c.33T>A	c.(31-33)aaT>aaA	p.N11K	BEST3_ENST00000551160.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	11					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAAGTTGCATTTGCTACTT	0.353																																						ENST00000330891.5																			0				cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12						c.(31-33)aaT>aaA		bestrophin 3							113.0	110.0	111.0					12																	70091546		1830	4090	5920	SO:0001583	missense	144453					chloride channel complex|plasma membrane	chloride channel activity	g.chr12:70091546A>T	AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.33T>A	12.37:g.70091546A>T	ENSP00000332413:p.Asn11Lys					BEST3_ENST00000551160.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron	p.N11K	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)		2	259	-	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		11					B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Missense_Mutation	SNP	ENST00000330891.5	37	c.33T>A	CCDS8992.2	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054785	0.55325	.	.	ENSG00000127325	ENST00000331471;ENST00000330891;ENST00000548658	D;D;D	0.98362	-4.89;-4.89;-4.89	5.84	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.82323	2.585	0.80722	D	1	P;B	0.46395	0.877;0.081	P;B	0.51742	0.678;0.051	D	0.97098	0.9795	10	0.40728	T	0.16	-24.9836	10.5116	0.44866	0.8665:0.0:0.1335:0.0	.	11;11	Q8N1M1;Q8N1M1-1	BEST3_HUMAN;.	K	11	ENSP00000329064:N11K;ENSP00000332413:N11K;ENSP00000446575:N11K	ENSP00000332413:N11K	N	-	3	2	BEST3	68377813	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.106000	0.57804	1.038000	0.40049	0.528000	0.53228	AAT		0.353	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2	NM_152439		28	110	28	110	---	---	---	---
KCNC2	3747	broad.mit.edu	37	12	75601721	75601721	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:75601721C>A	ENST00000549446.1	-	2	723	c.43G>T	c.(43-45)Ggg>Tgg	p.G15W	KCNC2_ENST00000548513.1_Missense_Mutation_p.G15W|KCNC2_ENST00000341669.3_Missense_Mutation_p.G15W|KCNC2_ENST00000393288.2_Missense_Mutation_p.G15W|KCNC2_ENST00000350228.2_Missense_Mutation_p.G15W|KCNC2_ENST00000550433.1_Missense_Mutation_p.G15W|KCNC2_ENST00000298972.1_Missense_Mutation_p.G15W|KCNC2_ENST00000540018.1_Missense_Mutation_p.G15W	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	15					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	CGGGTGCCCCCGACATTGAGG	0.592																																						ENST00000549446.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						c.(43-45)Ggg>Tgg		potassium voltage-gated channel, Shaw-related subfamily, member 2							52.0	45.0	47.0					12																	75601721		1988	3937	5925	SO:0001583	missense	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601721C>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.43G>T	12.37:g.75601721C>A	ENSP00000449253:p.Gly15Trp					KCNC2_ENST00000548513.1_Missense_Mutation_p.G15W|KCNC2_ENST00000350228.2_Missense_Mutation_p.G15W|KCNC2_ENST00000298972.1_Missense_Mutation_p.G15W|KCNC2_ENST00000540018.1_Missense_Mutation_p.G15W|KCNC2_ENST00000341669.3_Missense_Mutation_p.G15W|KCNC2_ENST00000550433.1_Missense_Mutation_p.G15W|KCNC2_ENST00000393288.2_Missense_Mutation_p.G15W	p.G15W	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN			2	723	-			15					B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Missense_Mutation	SNP	ENST00000549446.1	37	c.43G>T	CCDS9007.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.030318	0.75504	.	.	ENSG00000166006	ENST00000550433;ENST00000548513;ENST00000549446;ENST00000341669;ENST00000298972;ENST00000350228;ENST00000540018;ENST00000393288	T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.04	4.04	0.47022	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.133206	0.34110	N	0.004255	D	0.87569	0.6210	H	0.99104	4.43	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	0.999;1.0;1.0;0.999;0.999	D	0.92878	0.6320	10	0.87932	D	0	.	15.1377	0.72583	0.0:1.0:0.0:0.0	.	15;15;15;15;15	F5H030;Q96PR1-2;Q96PR1;Q96PR1-4;Q96PR1-3	.;.;KCNC2_HUMAN;.;.	W	15	ENSP00000448301:G15W;ENSP00000449941:G15W;ENSP00000449253:G15W;ENSP00000340121:G15W;ENSP00000298972:G15W;ENSP00000319877:G15W;ENSP00000438423:G15W;ENSP00000376966:G15W	ENSP00000298972:G15W	G	-	1	0	KCNC2	73887988	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.405000	0.80007	2.075000	0.62263	0.558000	0.71614	GGG		0.592	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		5	76	5	76	---	---	---	---
DAO	1610	broad.mit.edu	37	12	109281269	109281269	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:109281269C>A	ENST00000228476.3	+	3	442	c.238C>A	c.(238-240)Cat>Aat	p.H80N	DAO_ENST00000551281.1_Missense_Mutation_p.H80N	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	80					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	GAGCCATGTCCATTCTCCCAA	0.522																																						ENST00000228476.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						c.(238-240)Cat>Aat		D-amino-acid oxidase							353.0	326.0	335.0					12																	109281269		2203	4300	6503	SO:0001583	missense	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109281269C>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.238C>A	12.37:g.109281269C>A	ENSP00000228476:p.His80Asn					DAO_ENST00000551281.1_Missense_Mutation_p.H80N	p.H80N	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN			3	442	+			80					B2R7I5|Q16758|Q8N6R2	Missense_Mutation	SNP	ENST00000228476.3	37	c.238C>A	CCDS9122.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.574672	0.00887	.	.	ENSG00000110887	ENST00000551281;ENST00000228476;ENST00000547166	T;T;T	0.80909	1.01;-1.43;-1.43	5.52	1.18	0.20946	FAD dependent oxidoreductase (1);NAD(P)-binding domain (1);	0.492198	0.24618	N	0.036998	T	0.56321	0.1977	N	0.04686	-0.185	0.35772	D	0.821016	B;B	0.02656	0.0;0.0	B;B	0.12837	0.008;0.002	T	0.50634	-0.8805	10	0.11794	T	0.64	-17.1709	9.734	0.40377	0.2483:0.4931:0.2586:0.0	.	80;63	P14920;Q7Z312	OXDA_HUMAN;.	N	80	ENSP00000446853:H80N;ENSP00000228476:H80N;ENSP00000447104:H80N	ENSP00000228476:H80N	H	+	1	0	DAO	107805398	0.005000	0.15991	0.991000	0.47740	0.079000	0.17450	0.236000	0.17967	0.703000	0.31848	0.591000	0.81541	CAT		0.522	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			10	444	10	444	---	---	---	---
OASL	8638	broad.mit.edu	37	12	121471534	121471534	+	Missense_Mutation	SNP	C	C	A	rs146484691		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:121471534C>A	ENST00000257570.5	-	2	481	c.211G>T	c.(211-213)Ggg>Tgg	p.G71W	OASL_ENST00000339275.5_Missense_Mutation_p.G71W	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	71					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGCCATTCCCGAAGGAGCCC	0.592																																					Colon(192;517 2041 31392 31913 39966)	ENST00000257570.5																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14						c.(211-213)Ggg>Tgg		2'-5'-oligoadenylate synthetase-like							77.0	80.0	79.0					12																	121471534		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121471534C>A	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.211G>T	12.37:g.121471534C>A	ENSP00000257570:p.Gly71Trp					OASL_ENST00000339275.5_Missense_Mutation_p.G71W	p.G71W	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN			2	481	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		71					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.211G>T	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217695	0.58560	.	.	ENSG00000135114	ENST00000257570;ENST00000339275	T;T	0.12039	2.72;2.72	4.52	3.63	0.41609	2-5-oligoadenylate synthetase, N-terminal (1);2-5-oligoadenylate synthetase, conserved site (1);	0.000000	0.53938	D	0.000046	T	0.34308	0.0893	M	0.82056	2.57	0.26729	N	0.970629	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.05937	-1.0855	10	0.87932	D	0	-52.6377	7.7683	0.28993	0.0:0.889:0.0:0.111	.	71;71	Q15646-2;Q15646	.;OASL_HUMAN	W	71	ENSP00000257570:G71W;ENSP00000341125:G71W	ENSP00000257570:G71W	G	-	1	0	OASL	119955917	0.753000	0.28349	0.993000	0.49108	0.803000	0.45373	1.796000	0.38794	2.496000	0.84212	0.555000	0.69702	GGG		0.592	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733		4	111	4	111	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426226	20426226	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:20426226C>A	ENST00000337963.4	-	3	359	c.95G>T	c.(94-96)gGg>gTg	p.G32V	ZMYM5_ENST00000382907.4_Missense_Mutation_p.G32V|ZMYM5_ENST00000382905.4_Missense_Mutation_p.G32V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	32						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		AAATGAATCCCCTATGTCCAT	0.413																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(94-96)gGg>gTg		zinc finger, MYM-type 5							186.0	182.0	183.0					13																	20426226		2203	4300	6503	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20426226C>A	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.95G>T	13.37:g.20426226C>A	ENSP00000337034:p.Gly32Val					ZMYM5_ENST00000382905.4_Missense_Mutation_p.G32V|ZMYM5_ENST00000382907.4_Missense_Mutation_p.G32V	p.G32V	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	359	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	32					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.95G>T		.	.	.	.	.	.	.	.	.	.	C	7.825	0.718525	0.15372	.	.	ENSG00000132950	ENST00000337963;ENST00000502168;ENST00000382907;ENST00000382905	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.43	1.55	0.23275	.	.	.	.	.	T	0.44095	0.1277	M	0.73962	2.25	0.09310	N	0.999999	P;D;P	0.53312	0.731;0.959;0.893	B;P;P	0.54664	0.273;0.758;0.66	T	0.26467	-1.0102	9	0.72032	D	0.01	-0.1304	7.1809	0.25772	0.0:0.6968:0.1404:0.1627	.	32;32;32	Q9UJ78;Q9UJ78-2;Q9UJ78-1	ZMYM5_HUMAN;.;.	V	32;22;32;32	ENSP00000337034:G32V;ENSP00000445779:G22V;ENSP00000372364:G32V;ENSP00000372361:G32V	ENSP00000337034:G32V	G	-	2	0	ZMYM5	19324226	0.932000	0.31603	0.003000	0.11579	0.026000	0.11368	1.753000	0.38359	0.176000	0.19873	0.561000	0.74099	GGG		0.413	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		8	237	8	237	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36385036	36385036	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:36385036C>A	ENST00000360631.3	-	12	1835	c.1624G>T	c.(1624-1626)Ggc>Tgc	p.G542C	DCLK1_ENST00000379893.1_Missense_Mutation_p.G235C|DCLK1_ENST00000255448.4_Missense_Mutation_p.G542C			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	542	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACAGGGGGCCGTCTACAATG	0.468																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1624-1626)Ggc>Tgc		doublecortin-like kinase 1							167.0	160.0	163.0					13																	36385036		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36385036C>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1624G>T	13.37:g.36385036C>A	ENSP00000353846:p.Gly542Cys					DCLK1_ENST00000379893.1_Missense_Mutation_p.G235C|DCLK1_ENST00000360631.3_Missense_Mutation_p.G542C	p.G542C	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	12	1835	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	542			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1624G>T		.	.	.	.	.	.	.	.	.	.	C	28.5	4.925730	0.92319	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451	T;T;T	0.66995	-0.24;-0.24;-0.24	5.18	5.18	0.71444	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81403	0.4815	M	0.66297	2.02	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;0.998	D;D;D;D	0.91635	0.953;0.999;0.998;0.953	T	0.82936	-0.0210	10	0.72032	D	0.01	.	19.0516	0.93049	0.0:1.0:0.0:0.0	.	235;542;542;235	O15075-4;O15075;O15075-2;O15075-3	.;DCLK1_HUMAN;.;.	C	234;542;542;235;524	ENSP00000255448:G542C;ENSP00000353846:G542C;ENSP00000369223:G235C	ENSP00000255448:G542C	G	-	1	0	DCLK1	35283036	1.000000	0.71417	0.896000	0.35187	0.995000	0.86356	7.351000	0.79395	2.572000	0.86782	0.655000	0.94253	GGC		0.468	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		6	199	6	199	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48881478	48881478	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:48881478C>A	ENST00000267163.4	+	2	338	c.200C>A	c.(199-201)cCa>cAa	p.P67Q		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	67					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTAAAGATACCAGATCATGTC	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		18	Whole gene deletion(15)|Unknown(3)	p.0?(15)|p.?(3)	bone(10)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|eye(1)|soft_tissue(1)|endometrium(1)|stomach(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(199-201)cCa>cAa		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						135.0	138.0	137.0					13																	48881478		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48881478C>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.200C>A	13.37:g.48881478C>A	ENSP00000267163:p.Pro67Gln	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.P67Q	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	2	338	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	67					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.200C>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651520	0.47362	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.91521	-2.86	4.83	4.83	0.62350	.	0.121948	0.56097	D	0.000029	D	0.85182	0.5638	L	0.40543	1.245	0.42680	D	0.993543	B	0.31730	0.337	B	0.22601	0.04	D	0.85229	0.1031	10	0.52906	T	0.07	.	13.7951	0.63166	0.0:1.0:0.0:0.0	.	67	P06400	RB_HUMAN	Q	46;67	ENSP00000267163:P67Q	ENSP00000267163:P67Q	P	+	2	0	RB1	47779479	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.624000	0.54231	2.373000	0.80994	0.650000	0.86243	CCA		0.318	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			5	66	5	66	---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52701573	52701573	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr13:52701573C>A	ENST00000355568.4	-	3	185	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TATGCTTTCCCGAAGGCACCT	0.378																																						ENST00000355568.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(46-48)Ggg>Tgg		NIMA-related kinase 5							195.0	188.0	190.0					13																	52701573		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52701573C>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.46G>T	13.37:g.52701573C>A	ENSP00000347767:p.Gly16Trp						p.G16W	NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	3	185	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	16			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.46G>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.358683	0.61403	.	.	ENSG00000197168	ENST00000355568	T	0.56611	0.45	5.35	4.5	0.54988	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.82296	0.5006	H	0.98559	4.265	0.49299	D	0.999776	D	0.89917	1.0	D	0.97110	1.0	D	0.88327	0.2966	10	0.87932	D	0	.	12.9571	0.58434	0.1625:0.8375:0.0:0.0	.	16	Q6P3R8	NEK5_HUMAN	W	16	ENSP00000347767:G16W	ENSP00000347767:G16W	G	-	1	0	NEK5	51599574	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.917000	0.48821	1.364000	0.46038	-0.182000	0.12963	GGG		0.378	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		6	214	6	214	---	---	---	---
APEX1	328	broad.mit.edu	37	14	20920516	20920516	+	5'Flank	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:20920516C>A	ENST00000216714.3	+	0	0				OSGEP_ENST00000556252.1_5'UTR|APEX1_ENST00000557054.1_5'Flank|RP11-203M5.7_ENST00000555435.1_RNA|APEX1_ENST00000398030.4_5'Flank|OSGEP_ENST00000555656.1_5'Flank|OSGEP_ENST00000554249.1_5'Flank|APEX1_ENST00000555414.1_5'Flank|OSGEP_ENST00000206542.4_Missense_Mutation_p.Q69H	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	AGTCGATATCCTGGGAGGTTA	0.498								Other BER factors																														ENST00000206542.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(205-207)caG>caT		O-sialoglycoprotein endopeptidase							191.0	169.0	176.0					14																	20920516		2203	4300	6503	SO:0001631	upstream_gene_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20920516C>A	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544		14.37:g.20920516C>A	Exception_encountered					OSGEP_ENST00000556252.1_5'UTR	p.Q69H	NM_017807.3	NP_060277.1	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	2	628	-	all_cancers(95;0.00123)	all_lung(585;0.235)	69					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.207G>T	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058302	0.36277	.	.	ENSG00000092094	ENST00000206542;ENST00000553640;ENST00000488532	T;T;T	0.44482	2.29;0.92;0.92	5.65	4.77	0.60923	Peptidase M22, glycoprotease (1);	0.381634	0.29916	N	0.010865	T	0.34164	0.0888	L	0.45470	1.425	0.33367	D	0.573038	B	0.02656	0.0	B	0.10450	0.005	T	0.42292	-0.9460	10	0.44086	T	0.13	-6.4869	7.6357	0.28266	0.0:0.7539:0.0:0.2461	.	69	Q9NPF4	OSGEP_HUMAN	H	69	ENSP00000206542:Q69H;ENSP00000451580:Q69H;ENSP00000450507:Q69H	ENSP00000206542:Q69H	Q	-	3	2	OSGEP	19990356	0.737000	0.28175	0.993000	0.49108	0.991000	0.79684	-0.099000	0.11007	1.393000	0.46605	0.655000	0.94253	CAG		0.498	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		8	172	8	172	---	---	---	---
IPO4	79711	broad.mit.edu	37	14	24648040	24648040	+	IGR	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:24648040C>A	ENST00000354464.6	-	0	3646				REC8_ENST00000559919.1_Missense_Mutation_p.P373Q|REC8_ENST00000311457.3_Missense_Mutation_p.P373Q	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGCCACCCCCAAAAGCCCTC	0.582																																						ENST00000311457.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						c.(1117-1119)cCa>cAa		REC8 meiotic recombination protein							145.0	159.0	155.0					14																	24648040		1898	4120	6018	SO:0001628	intergenic_variant	9985				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm		g.chr14:24648040C>A	AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24648040C>A						REC8_ENST00000559919.1_Missense_Mutation_p.P373Q	p.P373Q			O95072	REC8_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	15	1717	+			374			Glu-rich.		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37	c.1118C>A	CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.215051	0.58452	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.33865	1.39	5.17	3.34	0.38264	.	0.274240	0.34268	N	0.004117	T	0.22781	0.0550	L	0.34521	1.04	0.20638	N	0.999877	B;B	0.17852	0.024;0.014	B;B	0.19391	0.025;0.011	T	0.20874	-1.0262	10	0.15499	T	0.54	-2.0656	6.5368	0.22359	0.1772:0.7316:0.0:0.0912	.	357;374	O95072-2;O95072	.;REC8_HUMAN	Q	373;356	ENSP00000308699:P373Q	ENSP00000308699:P373Q	P	+	2	0	REC8	23717880	0.174000	0.23070	0.134000	0.22075	0.020000	0.10135	1.247000	0.32815	0.746000	0.32786	0.457000	0.33378	CCA		0.582	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4	NM_024658		8	358	8	358	---	---	---	---
RABGGTA	5875	broad.mit.edu	37	14	24734902	24734902	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:24734902C>A	ENST00000399409.3	-	16	2106	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H	TGM1_ENST00000544573.1_5'Flank|RABGGTA_ENST00000216840.6_Missense_Mutation_p.Q541H|TGM1_ENST00000206765.6_5'Flank|RABGGTA_ENST00000560777.1_Missense_Mutation_p.Q150H	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	541					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCGGGTTACCCTGCAGGTTGA	0.622																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(1621-1623)caG>caT		Rab geranylgeranyltransferase, alpha subunit							37.0	41.0	40.0					14																	24734902		2026	4189	6215	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24734902C>A		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1623G>T	14.37:g.24734902C>A	ENSP00000382341:p.Gln541His					RABGGTA_ENST00000560777.1_Missense_Mutation_p.Q150H|RABGGTA_ENST00000216840.6_Missense_Mutation_p.Q541H	p.Q541H	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	16	2106	-			541					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1623G>T	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178110	0.38511	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.50277	0.75;0.75	5.67	5.67	0.87782	.	0.235425	0.38164	N	0.001793	T	0.24967	0.0606	N	0.04063	-0.285	0.35425	D	0.793585	B	0.02656	0.0	B	0.01281	0.0	T	0.27262	-1.0079	10	0.28530	T	0.3	-14.0328	10.7327	0.46107	0.0:0.9133:0.0:0.0867	.	541	Q92696	PGTA_HUMAN	H	541	ENSP00000216840:Q541H;ENSP00000382341:Q541H	ENSP00000216840:Q541H	Q	-	3	2	RABGGTA	23804742	0.998000	0.40836	1.000000	0.80357	0.968000	0.65278	0.471000	0.22100	2.670000	0.90874	0.462000	0.41574	CAG		0.622	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		4	21	4	21	---	---	---	---
PPP2R3C	55012	broad.mit.edu	37	14	35564358	35564358	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:35564358C>A	ENST00000261475.5	-	10	1224	c.871G>T	c.(871-873)Ggc>Tgc	p.G291C		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	291	EF-hand 1.				activation of protein kinase activity (GO:0032147)|B cell homeostasis (GO:0001782)|positive regulation of B cell differentiation (GO:0045579)|regulation of antimicrobial humoral response (GO:0002759)|regulation of mitochondrial depolarization (GO:0051900)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		CTGAGCATGCCATTGTGATCT	0.373																																						ENST00000261475.5																			0				central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15						c.(871-873)Ggc>Tgc		protein phosphatase 2, regulatory subunit B'', gamma							125.0	114.0	117.0					14																	35564358		2203	4300	6503	SO:0001583	missense	55012					centrosome|nucleus	calcium ion binding	g.chr14:35564358C>A	AK000651	CCDS9654.1	14q13.2	2010-06-18	2010-06-18	2007-01-22	ENSG00000092020	ENSG00000092020		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	17485	protein-coding gene	gene with protein product		615902	"""chromosome 14 open reading frame 10"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma"""	C14orf10		12167160, 16129705	Standard	NM_017917		Approved	FLJ20644, G4-1, G5PR	uc001wss.3	Q969Q6	OTTHUMG00000140224	ENST00000261475.5:c.871G>T	14.37:g.35564358C>A	ENSP00000261475:p.Gly291Cys						p.G291C	NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)	10	1224	-	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		291			EF-hand 1.		B4DEN7|D3DS97|D3DS98|Q5GJ55|Q5GJ56|Q6P4G2|Q86TZ3|Q9NWR9	Missense_Mutation	SNP	ENST00000261475.5	37	c.871G>T	CCDS9654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.843916|4.843916	0.91197|0.91197	.|.	.|.	ENSG00000092020|ENSG00000092020	ENST00000261475;ENST00000555219|ENST00000555614	T;T|.	0.80214|.	-1.31;-1.35|.	5.25|5.25	5.25|5.25	0.73442|0.73442	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84669|0.84669	0.5523|0.5523	M|M	0.89414|0.89414	3.03|3.03	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|D	0.86883|0.86883	0.2043|0.2043	10|5	0.38643|.	T|.	0.18|.	-3.5159|-3.5159	19.203|19.203	0.93719|0.93719	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	291|.	Q969Q6|.	P2R3C_HUMAN|.	C|L	291;12|219	ENSP00000261475:G291C;ENSP00000452173:G12C|.	ENSP00000261475:G291C|.	G|W	-|-	1|2	0|0	PPP2R3C|PPP2R3C	34634109|34634109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.729000|7.729000	0.84864|0.84864	2.611000|2.611000	0.88343|0.88343	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.373	PPP2R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276687.1	NM_017917		5	58	5	58	---	---	---	---
SEC23A	10484	broad.mit.edu	37	14	39543647	39543647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:39543647C>A	ENST00000307712.6	-	9	1592	c.1075G>T	c.(1075-1077)Gag>Tag	p.E359*	SEC23A_ENST00000536508.1_Nonsense_Mutation_p.E233*|SEC23A_ENST00000537403.1_Nonsense_Mutation_p.E157*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.E330*	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	359					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CATTTCATCTCCAGGAGACCT	0.343																																						ENST00000537403.1																			0				kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(469-471)Gag>Tag		Sec23 homolog A (S. cerevisiae)							130.0	133.0	132.0					14																	39543647		2203	4300	6503	SO:0001587	stop_gained	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39543647C>A	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1075G>T	14.37:g.39543647C>A	ENSP00000306881:p.Glu359*					SEC23A_ENST00000307712.6_Nonsense_Mutation_p.E359*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.E233*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.E330*	p.E157*			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	5	1671	-	Hepatocellular(127;0.213)		359					B2R5P4|B3KXI2|Q8NE16	Nonsense_Mutation	SNP	ENST00000307712.6	37	c.469G>T	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	43	10.027504	0.99320	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	.	.	.	5.49	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.2369	15.5369	0.76011	0.1392:0.8608:0.0:0.0	.	.	.	.	X	157;359;233;330;247	.	ENSP00000306881:E359X	E	-	1	0	SEC23A	38613398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.742000	0.85008	1.277000	0.44412	0.655000	0.94253	GAG		0.343	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			7	185	7	185	---	---	---	---
ZNF410	57862	broad.mit.edu	37	14	74364847	74364847	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:74364847C>A	ENST00000555044.1	+	5	656	c.462C>A	c.(460-462)tcC>tcA	p.S154S	RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000556797.1_Silent_p.S101S|ZNF410_ENST00000324593.6_Silent_p.S154S|ZNF410_ENST00000442160.3_Silent_p.S171S|ZNF410_ENST00000334521.4_Silent_p.S101S|ZNF410_ENST00000540593.1_Silent_p.S81S|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.4_ENST00000556551.2_3'UTR	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		ATTTCCTCTCCAGTGAGAGCA	0.468																																						ENST00000555044.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(460-462)tcC>tcA		zinc finger protein 410							151.0	137.0	142.0					14																	74364847		2203	4300	6503	SO:0001819	synonymous_variant	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74364847C>A	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.462C>A	14.37:g.74364847C>A						ZNF410_ENST00000556797.1_Silent_p.S101S|ZNF410_ENST00000540593.1_Silent_p.S81S|ZNF410_ENST00000334521.4_Silent_p.S101S|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Silent_p.S154S|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Silent_p.S171S	p.S154S	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	5	656	+			154					B4DDV5|B4DR78|O00153|Q9BQ19	Silent	SNP	ENST00000555044.1	37	c.462C>A	CCDS9821.1																																																																																				0.468	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188		6	141	6	141	---	---	---	---
ZC3H14	79882	broad.mit.edu	37	14	89039278	89039278	+	Missense_Mutation	SNP	C	C	A	rs548038372	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:89039278C>A	ENST00000251038.5	+	6	1013	c.788C>A	c.(787-789)cCa>cAa	p.P263Q	ZC3H14_ENST00000302216.8_Missense_Mutation_p.P263Q|ZC3H14_ENST00000556945.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.P108Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.P229Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.P229Q|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P263Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	263						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TTGTGTGAACCAGAGGTGCTT	0.398																																						ENST00000251038.5																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(787-789)cCa>cAa		zinc finger CCCH-type containing 14							104.0	102.0	103.0					14																	89039278		2203	4300	6503	SO:0001583	missense	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89039278C>A	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.788C>A	14.37:g.89039278C>A	ENSP00000251038:p.Pro263Gln					ZC3H14_ENST00000556945.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.P108Q|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P263Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.P229Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.P229Q|ZC3H14_ENST00000302216.8_Missense_Mutation_p.P263Q	p.P263Q	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN			6	1013	+			263					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	ENST00000251038.5	37	c.788C>A	CCDS32133.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.942830|2.942830	0.53079|0.53079	.|.	.|.	ENSG00000100722|ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000557607;ENST00000555755;ENST00000393514;ENST00000336693|ENST00000556000	.|.	.|.	.|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.479357|.	0.23537|.	N|.	0.047103|.	T|T	0.60573|0.60573	0.2279|0.2279	L|L	0.56769|0.56769	1.78|1.78	0.32892|0.32892	D|D	0.51196|0.51196	D;B;B;B;P;B|.	0.53151|.	0.958;0.343;0.27;0.056;0.773;0.321|.	P;B;B;B;B;B|.	0.48704|.	0.587;0.134;0.259;0.162;0.387;0.241|.	T|T	0.67711|0.67711	-0.5600|-0.5600	9|5	0.33940|.	T|.	0.23|.	-4.0483|-4.0483	13.5106|13.5106	0.61511|0.61511	0.0:0.929:0.0:0.071|0.0:0.929:0.0:0.071	.|.	263;244;263;263;263;263|.	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7|.	.;.;.;.;.;ZC3HE_HUMAN|.	Q|K	263;263;263;229;263;244;263;108;263;263;229|179	.|.	ENSP00000251038:P263Q|.	P|Q	+|+	2|1	0|0	ZC3H14|ZC3H14	88109031|88109031	0.907000|0.907000	0.30839|0.30839	0.964000|0.964000	0.40570|0.40570	0.790000|0.790000	0.44656|0.44656	2.763000|2.763000	0.47605|0.47605	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.398	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		5	92	5	92	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105405768	105405768	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr14:105405768C>A	ENST00000333244.5	-	7	16139	c.16020G>T	c.(16018-16020)atG>atT	p.M5340I	AHNAK2_ENST00000557457.1_Missense_Mutation_p.M338I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5340						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTTATCCTCCATGCTGGCAA	0.463																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(16018-16020)atG>atT		AHNAK nucleoprotein 2							44.0	43.0	43.0					14																	105405768		1917	4130	6047	SO:0001583	missense	113146					nucleus		g.chr14:105405768C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.16020G>T	14.37:g.105405768C>A	ENSP00000353114:p.Met5340Ile					AHNAK2_ENST00000557457.1_Missense_Mutation_p.M338I	p.M5340I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	16139	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5340					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.16020G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516700	0.27123	.	.	ENSG00000185567	ENST00000557457;ENST00000333244	T;T	0.02812	4.15;6.01	4.13	-6.38	0.01957	.	1.437790	0.05327	U	0.527638	T	0.01940	0.0061	N	0.24115	0.695	0.09310	N	1	B	0.22746	0.074	B	0.26614	0.071	T	0.46803	-0.9165	10	0.30854	T	0.27	.	2.8444	0.05539	0.1156:0.1508:0.2285:0.5052	.	5340	Q8IVF2	AHNK2_HUMAN	I	338;5340	ENSP00000450998:M338I;ENSP00000353114:M5340I	ENSP00000353114:M5340I	M	-	3	0	AHNAK2	104476813	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.673000	0.05239	-1.188000	0.02705	0.561000	0.74099	ATG		0.463	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		4	34	4	34	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30092850	30092850	+	Splice_Site	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:30092850C>A	ENST00000346128.6	-	2	557	c.83G>T	c.(82-84)aGg>aTg	p.R28M	TJP1_ENST00000400011.2_Splice_Site_p.R32M|TJP1_ENST00000545208.2_Splice_Site_p.R28M|TJP1_ENST00000495972.2_Splice_Site_p.R28M|TJP1_ENST00000356107.6_Splice_Site_p.R28M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	28	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAAACTTACCCTGTGAAGCGT	0.398																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6																			0				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68						c.(82-84)aGg>aTg		tight junction protein 1							188.0	170.0	176.0					15																	30092850		1923	4134	6057	SO:0001630	splice_region_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30092850C>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.84+1G>T	15.37:g.30092850C>A						TJP1_ENST00000545208.2_Splice_Site_p.R28M|TJP1_ENST00000400011.2_Splice_Site_p.R32M|TJP1_ENST00000495972.2_Splice_Site_p.R28M|TJP1_ENST00000356107.6_Splice_Site_p.R28M	p.R28M	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	2	557	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	28			PDZ 1.		B4E3K1|Q2NKP3|Q4ZGJ6	Splice_Site	SNP	ENST00000346128.6	37	c.83G>T	CCDS42007.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883024	0.91740	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.76	5.76	0.90799	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.75102	0.3804	M	0.78916	2.43	0.80722	D	1	P;P;B;D	0.89917	0.908;0.887;0.392;1.0	P;P;P;D	0.85130	0.784;0.678;0.576;0.997	T	0.73757	-0.3882	9	.	.	.	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	21;28;28;32	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	M	28;32;28;28;28	ENSP00000281537:R28M;ENSP00000382890:R32M;ENSP00000441202:R28M;ENSP00000348416:R28M	.	R	-	2	0	TJP1	27880142	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.455000	0.73497	2.882000	0.98803	0.655000	0.94253	AGG		0.398	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257	Missense_Mutation	5	84	5	84	---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40457272	40457272	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:40457272G>T	ENST00000287598.6	+	2	249	c.54G>T	c.(52-54)gaG>gaT	p.E18D	BUB1B_ENST00000560120.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E18D	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|protein localization to chromosome, centromeric region (GO:0071459)|protein localization to kinetochore (GO:0034501)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|condensed chromosome kinetochore (GO:0000777)|condensed chromosome outer kinetochore (GO:0000940)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|perinuclear region of cytoplasm (GO:0048471)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTCCCTGGAGGGAGATGAAT	0.428			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome																													ENST00000287598.6			yes	Rec		Mosaic variegated aneuploidy	15	15q15	701	"""Mis, N, F, S"""	BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast)			M		rhabdomyosarcoma			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36						c.(52-54)gaG>gaT		BUB1 mitotic checkpoint serine/threonine kinase B							115.0	110.0	112.0					15																	40457272		2203	4300	6503	SO:0001583	missense	701	Mosaic Variegated Aneuploidy Syndrome	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr15:40457272G>T	AF107297	CCDS10053.1	15q15	2014-09-17	2013-01-17		ENSG00000156970	ENSG00000156970			1149	protein-coding gene	gene with protein product		602860	"""budding uninhibited by benzimidazoles 1 (yeast homolog), beta"", ""budding uninhibited by benzimidazoles 1 homolog beta (yeast)"""			9889005	Standard	NM_001211		Approved	BUBR1, MAD3L, Bub1A, SSK1	uc001zkx.4	O60566	OTTHUMG00000129877	ENST00000287598.6:c.54G>T	15.37:g.40457272G>T	ENSP00000287598:p.Glu18Asp					BUB1B_ENST00000412359.3_Missense_Mutation_p.E18D|BUB1B_ENST00000560120.1_Intron	p.E18D	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)	2	249	+		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	18					B2R6U0|B4DL09|B4DLG3|O60501|O60627|O60758|O75389|Q59HH6|Q8WV50|Q96KM4	Missense_Mutation	SNP	ENST00000287598.6	37	c.54G>T	CCDS10053.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.471905	0.63737	.	.	ENSG00000156970	ENST00000287598;ENST00000412359;ENST00000442874	T;T	0.14266	2.52;2.52	5.77	1.82	0.25136	.	0.121926	0.53938	D	0.000059	T	0.08044	0.0201	L	0.47716	1.5	0.25862	N	0.983813	B	0.23490	0.086	B	0.17722	0.019	T	0.37384	-0.9708	10	0.05436	T	0.98	-9.2292	4.0953	0.09988	0.3575:0.0:0.4868:0.1558	.	18	O60566	BUB1B_HUMAN	D	18	ENSP00000287598:E18D;ENSP00000398470:E18D	ENSP00000287598:E18D	E	+	3	2	BUB1B	38244564	0.991000	0.36638	1.000000	0.80357	0.999000	0.98932	0.083000	0.14871	0.788000	0.33755	0.650000	0.86243	GAG		0.428	BUB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252122.4			5	73	5	73	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41829206	41829206	+	Missense_Mutation	SNP	C	C	A	rs368858057		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:41829206C>A	ENST00000304330.4	-	2	234	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	RPAP1_ENST00000561603.1_Missense_Mutation_p.G40C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	40						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCATCACCACCGCCCCTATTT	0.587																																						ENST00000304330.4																			0				NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45						c.(118-120)Ggt>Tgt		RNA polymerase II associated protein 1							157.0	136.0	143.0					15																	41829206		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41829206C>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.118G>T	15.37:g.41829206C>A	ENSP00000306123:p.Gly40Cys					RPAP1_ENST00000561603.1_Missense_Mutation_p.G40C	p.G40C	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	2	234	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	40					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.118G>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977142	0.34848	.	.	ENSG00000103932	ENST00000304330	D	0.83755	-1.76	5.11	0.961	0.19638	.	0.853507	0.10697	N	0.644517	T	0.70937	0.3281	N	0.22421	0.69	0.09310	N	1	P	0.40107	0.703	B	0.40940	0.344	T	0.61262	-0.7098	10	0.66056	D	0.02	1.0432	4.5226	0.11966	0.0:0.3649:0.3124:0.3227	.	40	Q9BWH6	RPAP1_HUMAN	C	40	ENSP00000306123:G40C	ENSP00000306123:G40C	G	-	1	0	RPAP1	39616498	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.032000	0.12266	0.025000	0.15241	-0.254000	0.11334	GGT		0.587	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		5	219	5	219	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51837907	51837907	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:51837907C>A	ENST00000251076.5	-	8	1090	c.803G>T	c.(802-804)tGg>tTg	p.W268L	DMXL2_ENST00000560421.1_5'Flank|DMXL2_ENST00000449909.3_Missense_Mutation_p.W268L|DMXL2_ENST00000543779.2_Missense_Mutation_p.W268L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	268						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGTTTCTGCCCAGAGCCGGCA	0.418																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(802-804)tGg>tTg		Dmx-like 2							143.0	142.0	142.0					15																	51837907		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51837907C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.803G>T	15.37:g.51837907C>A	ENSP00000251076:p.Trp268Leu					DMXL2_ENST00000449909.3_Missense_Mutation_p.W268L|DMXL2_ENST00000543779.2_Missense_Mutation_p.W268L	p.W268L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	8	1090	-			268					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.803G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481646	0.63849	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.17213	2.29;2.29;2.29	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.94021	3.485	0.41827	D	0.990052	P;D;B	0.76494	0.934;0.999;0.406	P;D;B	0.83275	0.616;0.996;0.234	T	0.67138	-0.5746	10	0.87932	D	0	.	20.1796	0.98194	0.0:1.0:0.0:0.0	.	268;268;268	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	L	268	ENSP00000251076:W268L;ENSP00000441858:W268L;ENSP00000400855:W268L	ENSP00000251076:W268L	W	-	2	0	DMXL2	49625199	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.445000	0.80570	2.784000	0.95788	0.655000	0.94253	TGG		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		7	198	7	198	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64048723	64048723	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:64048723C>A	ENST00000443617.2	-	5	1533	c.1446G>T	c.(1444-1446)tgG>tgT	p.W482C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	482					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CACCATCTCCCCAACTGAAGA	0.418																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(1444-1446)tgG>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							125.0	117.0	120.0					15																	64048723		1869	4108	5977	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64048723C>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.1446G>T	15.37:g.64048723C>A	ENSP00000390158:p.Trp482Cys						p.W482C	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			5	1533	-			482					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.1446G>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325734	0.81580	.	.	ENSG00000103657	ENST00000443617	D	0.92348	-3.02	5.14	5.14	0.70334	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	U	0.000001	D	0.96497	0.8857	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	0.979;1.0	D;D	0.97110	0.962;1.0	D	0.96569	0.9421	10	0.56958	D	0.05	.	18.9606	0.92676	0.0:1.0:0.0:0.0	.	482;482	C9JUT5;Q15751	.;HERC1_HUMAN	C	482	ENSP00000390158:W482C	ENSP00000390158:W482C	W	-	3	0	HERC1	61835776	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.750000	0.85110	2.554000	0.86153	0.561000	0.74099	TGG		0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		7	93	7	93	---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85476419	85476419	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:85476419C>A	ENST00000286749.3	+	12	1217	c.1127C>A	c.(1126-1128)cCt>cAt	p.P376H	SLC28A1_ENST00000394573.1_Missense_Mutation_p.P376H|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537216.1_Missense_Mutation_p.P376H|SLC28A1_ENST00000537624.1_Missense_Mutation_p.P376H			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	376					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	ATGGCTGCCCCTTGTGCCTTG	0.562																																						ENST00000394573.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1126-1128)cCt>cAt		solute carrier family 28 (concentrative nucleoside transporter), member 1							180.0	151.0	161.0					15																	85476419		2203	4299	6502	SO:0001583	missense	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85476419C>A	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.1127C>A	15.37:g.85476419C>A	ENSP00000286749:p.Pro376His					SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.P376H|SLC28A1_ENST00000537216.1_Missense_Mutation_p.P376H|SLC28A1_ENST00000537624.1_Missense_Mutation_p.P376H	p.P376H	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		13	1329	+			376					A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Missense_Mutation	SNP	ENST00000286749.3	37	c.1127C>A	CCDS10334.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511980	0.85389	.	.	ENSG00000156222	ENST00000537216;ENST00000537624;ENST00000286749;ENST00000394573	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	4.4	4.4	0.53042	Na dependent nucleoside transporter, C-terminal (1);	0.053668	0.85682	D	0.000000	T	0.49949	0.1587	H	0.98333	4.205	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.70644	-0.4815	10	0.87932	D	0	-1.7702	14.5391	0.67980	0.0:1.0:0.0:0.0	.	376;376;376	B7Z533;F5H560;O00337	.;.;S28A1_HUMAN	H	376	ENSP00000440546:P376H;ENSP00000444700:P376H;ENSP00000286749:P376H;ENSP00000378074:P376H	ENSP00000286749:P376H	P	+	2	0	SLC28A1	83277423	1.000000	0.71417	0.928000	0.36995	0.990000	0.78478	7.388000	0.79795	2.268000	0.75426	0.563000	0.77884	CCT		0.562	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			8	187	8	187	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101606927	101606927	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr15:101606927C>A	ENST00000388948.3	+	33	6210	c.5851C>A	c.(5851-5853)Cga>Aga	p.R1951R	LRRK1_ENST00000284395.5_Silent_p.R1948R|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTAAAAGCCCGAGAGCTGAC	0.592																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(5842-5844)Cga>Aga		leucine-rich repeat kinase 1							109.0	120.0	117.0					15																	101606927		2107	4243	6350	SO:0001819	synonymous_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101606927C>A	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5851C>A	15.37:g.101606927C>A						LRRK1_ENST00000388948.3_Silent_p.R1951R|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR	p.R1948R			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		34	6242	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1951						Silent	SNP	ENST00000388948.3	37	c.5842C>A	CCDS42086.1																																																																																				0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		6	178	6	178	---	---	---	---
CRAMP1L	57585	broad.mit.edu	37	16	1718167	1718167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:1718167G>T	ENST00000397412.3	+	18	3406	c.3307G>T	c.(3307-3309)Gag>Tag	p.E1103*	CRAMP1L_ENST00000436138.3_Nonsense_Mutation_p.E1100*|CRAMP1L_ENST00000293925.5_Nonsense_Mutation_p.E1103*|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Nonsense_Mutation_p.E481*			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1103	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTCCATCATTGAGATCGCCAT	0.597																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3307-3309)Gag>Tag		Crm, cramped-like (Drosophila)							62.0	63.0	63.0					16																	1718167		2163	4265	6428	SO:0001587	stop_gained	57585					nucleus	DNA binding	g.chr16:1718167G>T	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3307G>T	16.37:g.1718167G>T	ENSP00000380559:p.Glu1103*					CRAMP1L_ENST00000436138.3_Nonsense_Mutation_p.E1100*|CRAMP1L_ENST00000293925.5_Nonsense_Mutation_p.E1103*|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Nonsense_Mutation_p.E481*	p.E1103*			Q96RY5	CRML_HUMAN			18	3406	+			1103			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Nonsense_Mutation	SNP	ENST00000397412.3	37	c.3307G>T	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	G	41	8.802715	0.98960	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138;ENST00000262317	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-37.6147	19.2807	0.94051	0.0:0.0:1.0:0.0	.	.	.	.	X	1103;1103;1100;481	.	ENSP00000262317:E481X	E	+	1	0	CRAMP1L	1658168	1.000000	0.71417	0.993000	0.49108	0.958000	0.62258	9.710000	0.98732	2.563000	0.86464	0.655000	0.94253	GAG		0.597	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			7	100	7	100	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4927413	4927413	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:4927413C>A	ENST00000396658.4	+	16	3996	c.3293C>A	c.(3292-3294)cCg>cAg	p.P1098Q	UBN1_ENST00000545171.1_Intron|UBN1_ENST00000262376.6_Missense_Mutation_p.P1098Q|UBN1_ENST00000590769.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1098					chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CACTCCAGCCCGCCCCATGCA	0.592																																						ENST00000396658.4																			0				NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3292-3294)cCg>cAg		ubinuclein 1							162.0	170.0	168.0					16																	4927413		2197	4300	6497	SO:0001583	missense	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4927413C>A	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.3293C>A	16.37:g.4927413C>A	ENSP00000379894:p.Pro1098Gln					UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Missense_Mutation_p.P1098Q|UBN1_ENST00000545171.1_Intron	p.P1098Q	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			16	3996	+			1098					B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	c.3293C>A	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.695587	0.88830	.	.	ENSG00000118900	ENST00000262376;ENST00000396658	T;T	0.34072	1.38;1.38	5.14	5.14	0.70334	.	0.092643	0.47093	D	0.000259	T	0.57110	0.2031	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.55768	-0.8089	10	0.51188	T	0.08	-16.2556	17.7901	0.88550	0.0:1.0:0.0:0.0	.	1098	Q9NPG3	UBN1_HUMAN	Q	1098	ENSP00000262376:P1098Q;ENSP00000379894:P1098Q	ENSP00000262376:P1098Q	P	+	2	0	UBN1	4867414	1.000000	0.71417	0.967000	0.41034	0.995000	0.86356	5.653000	0.67967	2.667000	0.90743	0.563000	0.77884	CCG		0.592	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		8	322	8	322	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48226509	48226509	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:48226509C>A	ENST00000394747.1	-	19	2977	c.2628G>T	c.(2626-2628)gtG>gtT	p.V876V	ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Silent_p.V876V|ABCC11_ENST00000353782.5_Silent_p.V876V|ABCC11_ENST00000394748.1_Silent_p.V876V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	876	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGCAGACCCCCACACAGATGA	0.572																																						ENST00000394747.1																			0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(2626-2628)gtG>gtT		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							121.0	111.0	114.0					16																	48226509		2201	4300	6501	SO:0001819	synonymous_variant	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48226509C>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.2628G>T	16.37:g.48226509C>A						ABCC11_ENST00000353782.5_Silent_p.V876V|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.V876V|ABCC11_ENST00000356608.2_Silent_p.V876V	p.V876V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN			19	2977	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	876			ABC transmembrane type-1 2.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.2628G>T	CCDS10732.1																																																																																				0.572	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		5	76	5	76	---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55532277	55532277	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:55532277C>A	ENST00000219070.4	+	11	2195	c.1686C>A	c.(1684-1686)ccC>ccA	p.P562P	MMP2_ENST00000570308.1_Silent_p.P486P|MMP2_ENST00000437642.2_Silent_p.P512P|MMP2_ENST00000543485.1_Silent_p.P486P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	562	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	TGGGACTGCCCCCTGATGTCC	0.557																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1684-1686)ccC>ccA		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						96.0	85.0	88.0					16																	55532277		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55532277C>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1686C>A	16.37:g.55532277C>A						MMP2_ENST00000543485.1_Silent_p.P486P|MMP2_ENST00000437642.2_Silent_p.P512P|MMP2_ENST00000570308.1_Silent_p.P486P	p.P562P	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	11	2195	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	562			Hemopexin-like 2.|Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.1686C>A	CCDS10752.1																																																																																				0.557	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			6	101	6	101	---	---	---	---
CES1	1066	broad.mit.edu	37	16	55844565	55844565	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:55844565C>A	ENST00000361503.4	-	11	1309	c.1179G>T	c.(1177-1179)aaG>aaT	p.K393N	CES1_ENST00000422046.2_Missense_Mutation_p.K392N|CES1_ENST00000360526.3_Missense_Mutation_p.K394N			P23141	EST1_HUMAN	carboxylesterase 1	393					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GAATCAGTTCCTTAGCAATGC	0.483																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(1174-1176)aaG>aaT		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						136.0	145.0	142.0					16																	55844565		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55844565C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1179G>T	16.37:g.55844565C>A	ENSP00000355193:p.Lys393Asn					CES1_ENST00000361503.4_Missense_Mutation_p.K393N|CES1_ENST00000360526.3_Missense_Mutation_p.K394N	p.K392N			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	11	1457	-			393					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.1176G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	14.81	2.647763	0.47258	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.10382	3.19;3.19;2.88	4.69	3.5	0.40072	Carboxylesterase, type B (1);	0.519271	0.19052	N	0.124008	T	0.15262	0.0368	L	0.51914	1.62	0.09310	N	1	B;B;B	0.34015	0.269;0.435;0.228	B;B;B	0.44108	0.343;0.441;0.232	T	0.07520	-1.0768	10	0.49607	T	0.09	.	8.726	0.34469	0.0:0.8744:0.0:0.1256	.	392;393;394	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	N	394;393;392;258	ENSP00000353720:K394N;ENSP00000355193:K393N;ENSP00000390492:K392N	ENSP00000353720:K394N	K	-	3	2	CES1	54402066	0.943000	0.32029	0.139000	0.22197	0.007000	0.05969	0.712000	0.25779	2.182000	0.69389	0.456000	0.33151	AAG		0.483	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		8	196	8	196	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66436961	66436961	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:66436961C>A	ENST00000341529.3	+	12	2392	c.2244C>A	c.(2242-2244)acC>acA	p.T748T	CDH5_ENST00000539168.1_Silent_p.T187T	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	748	Ser-rich.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	CCCTGGGCACCGACTCATCCG	0.642																																						ENST00000341529.3																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2242-2244)acC>acA		cadherin 5, type 2 (vascular endothelium)																																				SO:0001819	synonymous_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436961C>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2244C>A	16.37:g.66436961C>A						CDH5_ENST00000539168.1_Silent_p.T187T	p.T748T	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2392	+		Ovarian(137;0.0955)	748			Ser-rich.		Q4VAI5|Q4VAI6	Silent	SNP	ENST00000341529.3	37	c.2244C>A	CCDS10804.1																																																																																				0.642	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		4	31	4	31	---	---	---	---
KCTD19	146212	broad.mit.edu	37	16	67327680	67327680	+	Missense_Mutation	SNP	G	G	T	rs570644111		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:67327680G>T	ENST00000304372.5	-	12	2040	c.1985C>A	c.(1984-1986)cCc>cAc	p.P662H		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	662					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTCCTCCAAGGGGCTGCTCCG	0.592																																						ENST00000304372.5																			0				endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1984-1986)cCc>cAc		potassium channel tetramerization domain containing 19							84.0	96.0	92.0					16																	67327680		2091	4221	6312	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327680G>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1985C>A	16.37:g.67327680G>T	ENSP00000305702:p.Pro662His						p.P662H	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2040	-		Ovarian(137;0.192)	662					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1985C>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663364	0.14710	.	.	ENSG00000168676	ENST00000304372	T	0.57595	0.39	5.93	2.54	0.30619	.	1.036540	0.07637	N	0.929708	T	0.33818	0.0876	N	0.08118	0	0.09310	N	1	B	0.20988	0.05	B	0.22386	0.039	T	0.27640	-1.0068	10	0.41790	T	0.15	-0.2526	9.1729	0.37093	0.0758:0.0:0.6537:0.2705	.	662	Q17RG1	KCD19_HUMAN	H	662	ENSP00000305702:P662H	ENSP00000305702:P662H	P	-	2	0	KCTD19	65885181	0.000000	0.05858	0.001000	0.08648	0.433000	0.31745	0.367000	0.20382	0.816000	0.34421	0.563000	0.77884	CCC		0.592	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		7	144	7	144	---	---	---	---
RLTPR	146206	broad.mit.edu	37	16	67680686	67680686	+	Splice_Site	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:67680686G>T	ENST00000334583.6	+	7	864	c.536G>T	c.(535-537)tGg>tTg	p.W179L	RLTPR_ENST00000545661.1_Splice_Site_p.W179L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	179					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GAGATTCAGTGGGTGAGGGTA	0.587																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(535-537)tGg>tTg		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							103.0	102.0	102.0					16																	67680686		1989	4202	6191	SO:0001630	splice_region_variant	146206							g.chr16:67680686G>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.537+1G>T	16.37:g.67680686G>T						RLTPR_ENST00000545661.1_Splice_Site_p.W179L	p.W179L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	7	864	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	179					B8X2Z3	Splice_Site	SNP	ENST00000334583.6	37	c.536G>T	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955020	0.92726	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.49139	0.79;0.79	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.70133	0.3189	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.73059	-0.4102	10	0.59425	D	0.04	-6.9667	17.1632	0.86809	0.0:0.0:1.0:0.0	.	179;179	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	L	179	ENSP00000334958:W179L;ENSP00000441481:W179L	ENSP00000334958:W179L	W	+	2	0	RLTPR	66238187	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.100000	0.94213	2.573000	0.86826	0.561000	0.74099	TGG		0.587	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	Missense_Mutation	6	138	6	138	---	---	---	---
EXOSC6	118460	broad.mit.edu	37	16	70287895	70287895	+	5'Flank	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:70287895C>A	ENST00000435634.1	-	0	0				AARS_ENST00000261772.8_Missense_Mutation_p.R816L|AARS_ENST00000564359.1_5'Flank	NM_058219.2	NP_478126.1	Q5RKV6	EXOS6_HUMAN	exosome component 6						DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GAGAGTCTCCCGCAATTCATC	0.557											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(2446-2448)cGg>cTg		alanyl-tRNA synthetase	L-Alanine(DB00160)						116.0	112.0	114.0					16																	70287895		2198	4300	6498	SO:0001631	upstream_gene_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70287895C>A	BC052252	CCDS10887.1	16q22.1	2008-02-05			ENSG00000223496	ENSG00000223496			19055	protein-coding gene	gene with protein product	"""Mtr3 (mRNA transport regulator 3)-homolog (yeast)"""	606490				11719186, 12419256	Standard	NM_058219		Approved	MTR3, hMtr3p, Mtr3p, EAP4, p11	uc002eym.1	Q5RKV6	OTTHUMG00000137578		16.37:g.70287895C>A	Exception_encountered		OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121		p.R816L	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	18	2590	-		Ovarian(137;0.0365)	816						Missense_Mutation	SNP	ENST00000435634.1	37	c.2447G>T	CCDS10887.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.293778	0.80914	.	.	ENSG00000090861	ENST00000261772	T	0.64803	-0.12	5.53	5.53	0.82687	.	0.100193	0.64402	D	0.000002	T	0.78660	0.4318	M	0.79123	2.44	0.80722	D	1	D;D	0.65815	0.995;0.995	D;P	0.64506	0.926;0.904	T	0.80169	-0.1494	10	0.56958	D	0.05	-8.7563	16.9596	0.86269	0.0:1.0:0.0:0.0	.	824;816	E7ETK8;P49588	.;SYAC_HUMAN	L	816	ENSP00000261772:R816L	ENSP00000261772:R816L	R	-	2	0	AARS	68845396	1.000000	0.71417	0.932000	0.37286	0.901000	0.52897	5.874000	0.69652	2.599000	0.87857	0.655000	0.94253	CGG		0.557	EXOSC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268966.1	NM_058219		5	157	5	157	---	---	---	---
ATP2C2	9914	broad.mit.edu	37	16	84473064	84473064	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:84473064G>T	ENST00000262429.4	+	13	1232	c.1143G>T	c.(1141-1143)acG>acT	p.T381T	ATP2C2_ENST00000416219.2_Silent_p.T381T|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	381					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGACAAGACGGGGACTCTGA	0.502																																						ENST00000416219.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						c.(1141-1143)acG>acT		ATPase, Ca++ transporting, type 2C, member 2							245.0	262.0	256.0					16																	84473064		2144	4256	6400	SO:0001819	synonymous_variant	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84473064G>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.1143G>T	16.37:g.84473064G>T						ATP2C2_ENST00000262429.4_Silent_p.T381T|ATP2C2_ENST00000420010.2_3'UTR	p.T381T			O75185	AT2C2_HUMAN			13	1232	+			381					B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Silent	SNP	ENST00000262429.4	37	c.1143G>T	CCDS42207.1																																																																																				0.502	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		6	182	6	182	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89965053	89965053	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:89965053C>A	ENST00000263346.8	+	10	1167	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	TCF25_ENST00000263347.7_Missense_Mutation_p.L136M	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	371					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAAGCTCATCCTGAGGTGAGT	0.617																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(1111-1113)Ctg>Atg		transcription factor 25 (basic helix-loop-helix)							66.0	71.0	69.0					16																	89965053		2198	4300	6498	SO:0001583	missense	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89965053C>A	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.1111C>A	16.37:g.89965053C>A	ENSP00000263346:p.Leu371Met					TCF25_ENST00000263347.7_Missense_Mutation_p.L136M	p.L371M	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	10	1167	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	371					Q2MK75|Q9UPV3	Missense_Mutation	SNP	ENST00000263346.8	37	c.1111C>A	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857683	0.71834	.	.	ENSG00000141002	ENST00000263346;ENST00000263347	T;T	0.80480	-1.38;-1.38	5.63	4.68	0.58851	Tetratricopeptide-like helical (1);	0.073354	0.64402	D	0.000020	D	0.91379	0.7280	M	0.92268	3.29	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.74348	0.936;0.983	D	0.93160	0.6557	10	0.87932	D	0	.	13.7874	0.63119	0.0:0.9262:0.0:0.0738	.	136;371	Q9H384;Q9BQ70	.;TCF25_HUMAN	M	371;136	ENSP00000263346:L371M;ENSP00000263347:L136M	ENSP00000263346:L371M	L	+	1	2	TCF25	88492554	0.997000	0.39634	0.999000	0.59377	0.729000	0.41735	2.826000	0.48104	1.381000	0.46364	0.561000	0.74099	CTG		0.617	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		5	69	5	69	---	---	---	---
MNT	4335	broad.mit.edu	37	17	2290904	2290904	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:2290904C>A	ENST00000174618.4	-	6	1445	c.1040G>T	c.(1039-1041)cGg>cTg	p.R347L	MNT_ENST00000575374.1_5'UTR|RP1-59D14.1_ENST00000571775.1_RNA	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	347					cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGGCCCGCCCGGTCCTCCTC	0.672																																						ENST00000174618.4																			0				endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1039-1041)cGg>cTg		MAX network transcriptional repressor							125.0	137.0	133.0					17																	2290904		2197	4283	6480	SO:0001583	missense	4335				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr17:2290904C>A	Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.1040G>T	17.37:g.2290904C>A	ENSP00000174618:p.Arg347Leu					MNT_ENST00000575374.1_5'UTR	p.R347L	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN		Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)	6	1445	-			347					A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	ENST00000174618.4	37	c.1040G>T	CCDS11018.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.060011	0.55325	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.81579	-1.51	4.69	3.67	0.42095	.	0.689267	0.13078	N	0.415530	T	0.72087	0.3417	L	0.51422	1.61	0.39143	D	0.962086	P	0.44380	0.834	B	0.38194	0.267	T	0.65907	-0.6054	10	0.27082	T	0.32	-9.5148	8.2222	0.31547	0.0:0.8636:0.0:0.1364	.	347	Q99583	MNT_HUMAN	L	347	ENSP00000174618:R347L	ENSP00000174618:R347L	R	-	2	0	MNT	2237654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.416000	0.44644	0.811000	0.34303	0.591000	0.81541	CGG		0.672	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207158.1	NM_020310		7	289	7	289	---	---	---	---
ZNF232	7775	broad.mit.edu	37	17	5009563	5009563	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:5009563G>T	ENST00000250076.3	-	5	1545	c.891C>A	c.(889-891)ccC>ccA	p.P297P	ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Silent_p.P288P	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	270					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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCTTCCCTGTGGGAATTTCCT	0.458																																						ENST00000250076.3																			0				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						c.(889-891)ccC>ccA		zinc finger protein 232							104.0	103.0	103.0					17																	5009563		2203	4300	6503	SO:0001819	synonymous_variant	7775				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:5009563G>T	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.891C>A	17.37:g.5009563G>T						ZNF232_ENST00000575898.1_Silent_p.P288P|ZNF232_ENST00000416429.2_3'UTR	p.P297P	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN			5	1545	-			270						Silent	SNP	ENST00000250076.3	37	c.891C>A	CCDS11068.1																																																																																				0.458	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519		5	91	5	91	---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6513403	6513403	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:6513403G>T	ENST00000361413.3	-	9	1981	c.1623C>A	c.(1621-1623)tcC>tcA	p.S541S	KIAA0753_ENST00000589033.1_5'UTR|KIAA0753_ENST00000542606.1_Silent_p.S242S|KIAA0753_ENST00000572370.1_Silent_p.S242S	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	541						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TTTTTAATCTGGATGAAACTG	0.473																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1621-1623)tcC>tcA		KIAA0753							170.0	169.0	169.0					17																	6513403		1919	4128	6047	SO:0001819	synonymous_variant	9851					centrosome		g.chr17:6513403G>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1623C>A	17.37:g.6513403G>T						KIAA0753_ENST00000542606.1_Silent_p.S242S|KIAA0753_ENST00000589033.1_5'UTR|KIAA0753_ENST00000572370.1_Silent_p.S242S	p.S541S	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	9	1981	-			541					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	c.1623C>A	CCDS42247.1																																																																																				0.473	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		5	104	5	104	---	---	---	---
GPS2	2874	broad.mit.edu	37	17	7217275	7217275	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7217275G>C	ENST00000380728.2	-	6	730	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	GPS2_ENST00000389167.5_Missense_Mutation_p.L144V|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	144					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCTGCCATGAGGGTGCCTGGG	0.547																																						ENST00000380728.2																			0				breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24						c.(430-432)Ctc>Gtc		G protein pathway suppressor 2							133.0	126.0	128.0					17																	7217275		2203	4300	6503	SO:0001583	missense	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7217275G>C	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.430C>G	17.37:g.7217275G>C	ENSP00000370104:p.Leu144Val					RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V	p.L144V			Q13227	GPS2_HUMAN			6	730	-		Prostate(122;0.157)	144					B4DXA1|Q6FHM8	Missense_Mutation	SNP	ENST00000380728.2	37	c.430C>G	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237038	0.79800	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	T;T	0.52057	0.68;0.68	4.88	4.88	0.63580	.	0.000000	0.64402	U	0.000009	T	0.49779	0.1577	L	0.32530	0.975	0.58432	D	0.999995	D	0.64830	0.994	P	0.54706	0.759	T	0.40701	-0.9549	10	0.34782	T	0.22	.	15.0613	0.71955	0.0:0.0:1.0:0.0	.	144	Q13227	GPS2_HUMAN	V	144	ENSP00000370104:L144V;ENSP00000379841:L144V	ENSP00000319371:L144V	L	-	1	0	GPS2	7157999	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	6.675000	0.74493	2.548000	0.85928	0.655000	0.94253	CTC		0.547	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489		35	90	35	90	---	---	---	---
POLR2A	5430	broad.mit.edu	37	17	7399794	7399794	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7399794C>A	ENST00000322644.6	+	4	798	c.399C>A	c.(397-399)tcC>tcA	p.S133S	POLR2A_ENST00000572844.1_Silent_p.S133S	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	133					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGGCTAAGTCCAAGGGACAGC	0.567																																						ENST00000322644.6																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(397-399)tcC>tcA		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							131.0	131.0	131.0					17																	7399794		2203	4300	6503	SO:0001819	synonymous_variant	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7399794C>A			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.399C>A	17.37:g.7399794C>A						POLR2A_ENST00000572844.1_Silent_p.S133S	p.S133S	NM_000937.4	NP_000928	P24928	RPB1_HUMAN			4	798	+		Prostate(122;0.173)	133					A6NN93|B9EH88|Q6NX41	Silent	SNP	ENST00000322644.6	37	c.399C>A	CCDS32548.1																																																																																				0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937		8	137	8	137	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7700502	7700502	+	Missense_Mutation	SNP	G	G	T	rs147908045	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7700502G>T	ENST00000572933.1	+	51	9332	c.7872G>T	c.(7870-7872)caG>caT	p.Q2624H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2624H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2624	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTGTTCCAGGGCATGCTTA	0.478																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7870-7872)caG>caT		dynein, axonemal, heavy chain 2							144.0	130.0	135.0					17																	7700502		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7700502G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7872G>T	17.37:g.7700502G>T	ENSP00000458355:p.Gln2624His					DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2624H	p.Q2624H			Q9P225	DYH2_HUMAN			51	9332	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2624			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.7872G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501991	0.64298	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.45276	0.9	5.45	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.70876	0.3274	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74937	-0.3494	10	0.66056	D	0.02	.	8.9706	0.35903	0.2371:0.0:0.7629:0.0	.	2624	Q9P225	DYH2_HUMAN	H	2624	ENSP00000373825:Q2624H	ENSP00000353818:Q2624H	Q	+	3	2	DNAH2	7641227	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.766000	0.38491	0.867000	0.35654	-0.142000	0.14014	CAG		0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	149	7	149	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8379196	8379196	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:8379196G>T	ENST00000269243.4	-	41	5995	c.5857C>A	c.(5857-5859)Ctg>Atg	p.L1953M	NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.L1969M|MYH10_ENST00000396239.1_Missense_Mutation_p.L1974M|MYH10_ENST00000360416.3_Missense_Mutation_p.L1984M	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1953					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GAGAGCTCCAGGGAAGCTCCT	0.582																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(5950-5952)Ctg>Atg		myosin, heavy chain 10, non-muscle							137.0	130.0	133.0					17																	8379196		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8379196G>T	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.5857C>A	17.37:g.8379196G>T	ENSP00000269243:p.Leu1953Met					NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.L1969M|MYH10_ENST00000396239.1_Missense_Mutation_p.L1974M|MYH10_ENST00000269243.4_Missense_Mutation_p.L1953M	p.L1984M	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			43	6088	-			1953					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.5950C>A	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	G	9.838	1.190346	0.21954	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.86097	-2.05;-2.07;-2.07;-2.06	4.89	4.89	0.63831	.	0.081495	0.51477	D	0.000090	T	0.74129	0.3676	N	0.08118	0	0.35663	D	0.8127	P;P;B	0.41131	0.468;0.739;0.452	B;B;B	0.43082	0.143;0.407;0.227	T	0.80694	-0.1268	10	0.44086	T	0.13	.	12.6379	0.56692	0.0811:0.0:0.9189:0.0	.	1962;1984;1953	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	M	1953;1984;1974;1969	ENSP00000269243:L1953M;ENSP00000353590:L1984M;ENSP00000379539:L1974M;ENSP00000369315:L1969M	ENSP00000269243:L1953M	L	-	1	2	MYH10	8319921	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.759000	0.38420	2.681000	0.91329	0.655000	0.94253	CTG		0.582	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			7	156	7	156	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9739702	9739702	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:9739702G>T	ENST00000262441.5	+	3	805	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	98					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)	p.G98W(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ATTTTGTAACGGGACATTTGA	0.483																																						ENST00000262441.5																			1	Substitution - Missense(1)	p.G98W(1)	lung(1)	endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(292-294)Ggg>Tgg		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						320.0	287.0	298.0					17																	9739702		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9739702G>T	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.292G>T	17.37:g.9739702G>T	ENSP00000262441:p.Gly98Trp					GLP2R_ENST00000574745.1_5'UTR	p.G98W	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN			3	805	+			98					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.292G>T	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.862323	0.51482	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.65549	-0.16	5.58	5.58	0.84498	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (2);	0.000000	0.38720	N	0.001594	T	0.77329	0.4114	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77981	-0.2383	10	0.62326	D	0.03	.	18.3542	0.90351	0.0:0.0:1.0:0.0	.	98	O95838	GLP2R_HUMAN	W	98;73;98	ENSP00000262441:G98W	ENSP00000262441:G98W	G	+	1	0	GLP2R	9680427	1.000000	0.71417	0.765000	0.31456	0.092000	0.18411	8.601000	0.90864	2.640000	0.89533	0.563000	0.77884	GGG		0.483	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			6	199	6	199	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18220835	18220835	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:18220835C>A	ENST00000406438.3	+	1	2212	c.1732C>A	c.(1732-1734)Cca>Aca	p.P578T	TOP3A_ENST00000542570.1_5'Flank|TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	578						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AGAAAACACCCCATCACAAAT	0.537																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1732-1734)Cca>Aca		Smith-Magenis syndrome chromosome region, candidate 8							99.0	108.0	105.0					17																	18220835		2203	4300	6503	SO:0001583	missense	140775							g.chr17:18220835C>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.1732C>A	17.37:g.18220835C>A	ENSP00000385025:p.Pro578Thr						p.P578T	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN			1	2212	+			578					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.1732C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.303868	0.01353	.	.	ENSG00000176994	ENST00000406438	T	0.30714	1.52	5.63	-5.77	0.02369	.	0.635334	0.13350	N	0.394465	T	0.12518	0.0304	N	0.19112	0.55	0.09310	N	1	B	0.17038	0.02	B	0.14023	0.01	T	0.38779	-0.9645	10	0.08599	T	0.76	-47.7591	7.5318	0.27687	0.0:0.1407:0.3424:0.5169	.	578	Q8TEV9	SMCR8_HUMAN	T	578	ENSP00000385025:P578T	ENSP00000385025:P578T	P	+	1	0	SMCR8	18161560	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.105000	0.10907	-0.754000	0.04715	-0.150000	0.13652	CCA		0.537	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		7	137	7	137	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27031418	27031418	+	IGR	SNP	C	C	A	rs143668972		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:27031418C>A	ENST00000314616.6	+	0	6518				PROCA1_ENST00000439862.3_Missense_Mutation_p.R90L|PROCA1_ENST00000581289.1_Intron|PROCA1_ENST00000301039.2_Missense_Mutation_p.R88L|PROCA1_ENST00000579650.1_5'UTR	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCCGCGCCCCGGGAGCTGCT	0.627																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(262-264)cGg>cTg		protein interacting with cyclin A1							92.0	101.0	98.0					17																	27031418		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27031418C>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27031418C>A						PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.R90L|PROCA1_ENST00000581289.1_Intron	p.R88L	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			3	456	-	Lung NSC(42;0.00431)		116					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.263G>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	c	8.742	0.919188	0.17982	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329;ENST00000422880	T;T	0.04156	3.69;3.69	4.52	-4.61	0.03380	Phospholipase A2 (2);	0.359766	0.27787	N	0.017843	T	0.05640	0.0148	L	0.46157	1.445	0.09310	N	1	P;P;P	0.38597	0.639;0.586;0.586	B;B;B	0.42593	0.392;0.272;0.272	T	0.05435	-1.0885	10	0.46703	T	0.11	0.849	11.2591	0.49071	0.0:0.3905:0.0:0.6095	.	116;90;88	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	L	88;90;116;90	ENSP00000301039:R88L;ENSP00000411400:R90L	ENSP00000301039:R88L	R	-	2	0	PROCA1	24055545	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.357000	0.01086	-1.248000	0.02503	-0.726000	0.03593	CGG		0.627	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		6	202	6	202	---	---	---	---
FNDC8	54752	broad.mit.edu	37	17	33454224	33454224	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:33454224C>A	ENST00000158009.5	+	2	488	c.373C>A	c.(373-375)Cca>Aca	p.P125T		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	125						nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CAGCTTCTCCCCAATGGCCAA	0.572																																						ENST00000158009.5																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11						c.(373-375)Cca>Aca		fibronectin type III domain containing 8							130.0	134.0	132.0					17																	33454224		2203	4300	6503	SO:0001583	missense	54752							g.chr17:33454224C>A	BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.373C>A	17.37:g.33454224C>A	ENSP00000158009:p.Pro125Thr						p.P125T	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)	2	488	+		Ovarian(249;0.17)	125					B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	37	c.373C>A	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	C	2.408	-0.335984	0.05278	.	.	ENSG00000073598	ENST00000158009	T	0.29142	1.58	5.38	1.88	0.25563	.	0.519546	0.16435	N	0.214543	T	0.14098	0.0341	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23691	-1.0181	10	0.23891	T	0.37	-2.3876	3.7354	0.08508	0.3603:0.0945:0.0:0.5452	.	125	Q8TC99	FNDC8_HUMAN	T	125	ENSP00000158009:P125T	ENSP00000158009:P125T	P	+	1	0	FNDC8	30478337	0.011000	0.17503	0.007000	0.13788	0.074000	0.17049	0.752000	0.26362	0.111000	0.17947	-0.302000	0.09304	CCA		0.572	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		7	210	7	210	---	---	---	---
GPR179	440435	broad.mit.edu	37	17	36485797	36485797	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:36485797G>T	ENST00000342292.4	-	11	3675	c.3655C>A	c.(3655-3657)Cct>Act	p.P1219T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1219					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CACCCGACAGGGGTTTCTTTT	0.567																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(3655-3657)Cct>Act		G protein-coupled receptor 179							116.0	123.0	121.0					17																	36485797		1915	4123	6038	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485797G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.3655C>A	17.37:g.36485797G>T	ENSP00000345060:p.Pro1219Thr						p.P1219T	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	3675	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1219						Missense_Mutation	SNP	ENST00000342292.4	37	c.3655C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	6.358	0.434095	0.12045	.	.	ENSG00000188888	ENST00000342292	T	0.54071	0.59	5.32	2.11	0.27256	.	0.116409	0.39475	N	0.001341	T	0.37758	0.1015	L	0.43152	1.355	0.09310	N	1	P	0.50272	0.933	B	0.41440	0.357	T	0.18524	-1.0334	10	0.30078	T	0.28	-3.6372	5.284	0.15690	0.0796:0.1424:0.6307:0.1472	.	1219	Q6PRD1	GP179_HUMAN	T	1219	ENSP00000345060:P1219T	ENSP00000345060:P1219T	P	-	1	0	GPR179	33739323	0.003000	0.15002	0.015000	0.15790	0.007000	0.05969	0.433000	0.21477	0.772000	0.33382	0.407000	0.27541	CCT		0.567	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			7	224	7	224	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37565755	37565755	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:37565755C>A	ENST00000300651.6	-	17	2942	c.2719G>T	c.(2719-2721)Ggg>Tgg	p.G907W	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATTGGCACCCCCAAAGTATTT	0.428										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(2719-2721)Ggg>Tgg		mediator complex subunit 1							129.0	131.0	130.0					17																	37565755		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565755C>A	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2719G>T	17.37:g.37565755C>A	ENSP00000300651:p.Gly907Trp	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.G907W	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2942	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	907			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.2719G>T	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183488	0.57800	.	.	ENSG00000125686	ENST00000300651	T	0.40225	1.04	5.65	5.65	0.86999	.	.	.	.	.	T	0.54143	0.1840	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56475	-0.7973	9	0.72032	D	0.01	-1.9484	19.9142	0.97043	0.0:1.0:0.0:0.0	.	907	Q15648	MED1_HUMAN	W	907	ENSP00000300651:G907W	ENSP00000300651:G907W	G	-	1	0	MED1	34819281	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.760000	0.74939	2.941000	0.99782	0.655000	0.94253	GGG		0.428	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		8	230	8	230	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37686906	37686906	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:37686906C>A	ENST00000447079.4	+	14	3843	c.3810C>A	c.(3808-3810)ccC>ccA	p.P1270P	CDK12_ENST00000430627.2_Silent_p.P1261P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1270	Poly-Pro.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGAGCCCCCCGGACCTCCAC	0.577			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3808-3810)ccC>ccA		cyclin-dependent kinase 12							84.0	113.0	103.0					17																	37686906		2194	4292	6486	SO:0001819	synonymous_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37686906C>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3810C>A	17.37:g.37686906C>A		TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Silent_p.P1261P	p.P1270P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	3843	+			1270			Poly-Pro.		A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	c.3810C>A	CCDS11337.1																																																																																				0.577	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		7	308	7	308	---	---	---	---
RAPGEFL1	51195	broad.mit.edu	37	17	38345151	38345151	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:38345151G>T	ENST00000456989.2	+	5	460	c.414G>T	c.(412-414)caG>caT	p.Q138H	RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.Q83H|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q132H|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q83H			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	289					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCAGCAAGCAGGTGAAGCCAC	0.612																																					Esophageal Squamous(28;274 750 6870 14218 42203)	ENST00000436615.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(247-249)caG>caT		Rap guanine nucleotide exchange factor (GEF)-like 1							52.0	52.0	52.0					17																	38345151		2203	4300	6503	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38345151G>T	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.414G>T	17.37:g.38345151G>T	ENSP00000394530:p.Gln138His					RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.Q138H|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q132H|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q83H	p.Q83H	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN			5	739	+			289			Gly-rich.			Missense_Mutation	SNP	ENST00000456989.2	37	c.249G>T		.	.	.	.	.	.	.	.	.	.	G	19.60	3.857550	0.71834	.	.	ENSG00000108352	ENST00000456989;ENST00000543876;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615;ENST00000538981	T;T;T;T;T;T	0.46819	1.55;0.86;1.55;1.44;1.55;0.86	5.73	2.2	0.27929	Ras guanine nucleotide exchange factor, domain (1);	0.157967	0.44688	D	0.000421	T	0.48768	0.1518	L	0.36672	1.1	0.48901	D	0.999725	P;P	0.50943	0.939;0.94	P;P	0.55667	0.781;0.635	T	0.49762	-0.8905	10	0.87932	D	0	.	9.9365	0.41554	0.3145:0.0:0.6855:0.0	.	19;289	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	H	138;83;132;83;288;83;83	ENSP00000394530:Q138H;ENSP00000440226:Q83H;ENSP00000438631:Q132H;ENSP00000264644:Q288H;ENSP00000408322:Q83H;ENSP00000441059:Q83H	ENSP00000264644:Q288H	Q	+	3	2	RAPGEFL1	35598677	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.242000	0.32755	0.767000	0.33267	0.655000	0.94253	CAG		0.612	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		5	83	5	83	---	---	---	---
HSPB9	94086	broad.mit.edu	37	17	40275108	40275108	+	Silent	SNP	C	C	A	rs150293597	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:40275108C>A	ENST00000355067.3	+	1	353	c.240C>A	c.(238-240)acC>acA	p.T80T	KAT2A_ENST00000225916.5_5'Flank|CTD-2132N18.3_ENST00000592574.1_Intron	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN	heat shock protein, alpha-crystallin-related, B9	80					response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TGATGGTGACCGGACAGCAGC	0.592																																						ENST00000355067.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4						c.(238-240)acC>acA		heat shock protein, alpha-crystallin-related, B9							117.0	104.0	108.0					17																	40275108		2203	4300	6503	SO:0001819	synonymous_variant	94086				response to stress	cytoplasm|nucleus	protein binding	g.chr17:40275108C>A	AJ302068	CCDS11418.1	17q21	2011-09-02			ENSG00000197723	ENSG00000260325		"""Heat shock proteins / HSPB"""	30589	protein-coding gene	gene with protein product	"""cancer/testis antigen 51"""	608344				11470154, 12820654	Standard	NM_033194		Approved	CT51	uc002hyy.2	Q9BQS6	OTTHUMG00000133500	ENST00000355067.3:c.240C>A	17.37:g.40275108C>A						CTD-2132N18.3_ENST00000592574.1_Intron	p.T80T	NM_033194.2	NP_149971.1	Q9BQS6	HSPB9_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.124)	1	353	+		all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866)	80					B3KSG6|Q52LB4	Silent	SNP	ENST00000355067.3	37	c.240C>A	CCDS11418.1																																																																																				0.592	HSPB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257438.1	NM_033194		6	128	6	128	---	---	---	---
AOC2	314	broad.mit.edu	37	17	40997529	40997529	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:40997529C>A	ENST00000253799.3	+	1	913	c.886C>A	c.(886-888)Ctg>Atg	p.L296M	AOC2_ENST00000452774.2_Missense_Mutation_p.L296M	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	296					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGCTTCATCCCTGAGGTCTCG	0.557																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(886-888)Ctg>Atg		amine oxidase, copper containing 2 (retina-specific)							87.0	88.0	88.0					17																	40997529		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997529C>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.886C>A	17.37:g.40997529C>A	ENSP00000253799:p.Leu296Met					AOC2_ENST00000452774.2_Missense_Mutation_p.L296M	p.L296M	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	913	+		Breast(137;0.000143)	296					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.886C>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.141974	0.21205	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.02177	4.41;4.41	5.32	1.65	0.23941	Copper amine oxidase, N-terminal (1);	0.157494	0.45361	D	0.000362	T	0.02929	0.0087	N	0.08118	0	0.33990	D	0.649019	D;D	0.64830	0.99;0.994	D;D	0.67231	0.944;0.95	T	0.55817	-0.8081	10	0.37606	T	0.19	-32.2791	6.4917	0.22119	0.1347:0.5708:0.0:0.2945	.	296;296	O75106;O75106-2	AOC2_HUMAN;.	M	296	ENSP00000253799:L296M;ENSP00000406134:L296M	ENSP00000253799:L296M	L	+	1	2	AOC2	38251055	0.088000	0.21588	0.062000	0.19696	0.464000	0.32679	0.611000	0.24268	0.603000	0.29913	0.561000	0.74099	CTG		0.557	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		6	105	6	105	---	---	---	---
TMEM92	162461	broad.mit.edu	37	17	48356601	48356601	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:48356601C>A	ENST00000300433.3	+	6	522	c.412C>A	c.(412-414)Cct>Act	p.P138T	TMEM92_ENST00000507382.1_Missense_Mutation_p.P138T|RP11-893F2.9_ENST00000508851.1_RNA	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	138	Pro-rich.					integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AGAGCCACCCCCTCCCTACAG	0.592																																						ENST00000300433.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						c.(412-414)Cct>Act		transmembrane protein 92							128.0	144.0	139.0					17																	48356601		2203	4300	6503	SO:0001583	missense	162461					integral to membrane		g.chr17:48356601C>A		CCDS11562.1	17q21.33	2005-12-13							26579	protein-coding gene	gene with protein product						12975309	Standard	NM_153229		Approved	FLJ33318	uc002iqn.2	Q6UXU6		ENST00000300433.3:c.412C>A	17.37:g.48356601C>A	ENSP00000300433:p.Pro138Thr					TMEM92_ENST00000507382.1_Missense_Mutation_p.P138T	p.P138T	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN			6	522	+			138			Pro-rich.		Q8NBF0	Missense_Mutation	SNP	ENST00000300433.3	37	c.412C>A	CCDS11562.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959391	0.74016	.	.	ENSG00000167105	ENST00000300433;ENST00000507382	T;T	0.18960	2.18;2.18	4.53	4.53	0.55603	.	0.000000	0.45867	D	0.000327	T	0.45256	0.1333	M	0.74258	2.255	0.36817	D	0.886204	D	0.89917	1.0	D	0.91635	0.999	T	0.55354	-0.8154	10	0.66056	D	0.02	-12.1923	12.6372	0.56689	0.0:1.0:0.0:0.0	.	138	Q6UXU6	TMM92_HUMAN	T	138	ENSP00000300433:P138T;ENSP00000425144:P138T	ENSP00000300433:P138T	P	+	1	0	TMEM92	45711600	0.993000	0.37304	0.999000	0.59377	0.968000	0.65278	3.289000	0.51747	2.351000	0.79841	0.462000	0.41574	CCT		0.592	TMEM92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367053.2	NM_153229		8	237	8	237	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56060629	56060629	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:56060629C>A	ENST00000581208.1	-	2	199	c.159G>T	c.(157-159)caG>caT	p.Q53H	VEZF1_ENST00000584396.1_Missense_Mutation_p.Q44H	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	53					angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTGGTGCACCCTGAGGTTTCT	0.473																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(130-132)caG>caT		vascular endothelial zinc finger 1							122.0	126.0	125.0					17																	56060629		2203	4300	6503	SO:0001583	missense	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56060629C>A	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.159G>T	17.37:g.56060629C>A	ENSP00000462337:p.Gln53His					VEZF1_ENST00000581208.1_Missense_Mutation_p.Q53H	p.Q44H			Q14119	VEZF1_HUMAN			2	220	-			53						Missense_Mutation	SNP	ENST00000581208.1	37	c.132G>T	CCDS32687.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263484	0.23136	.	.	ENSG00000136451	ENST00000258963	.	.	.	5.83	3.75	0.43078	.	0.098347	0.64402	N	0.000001	T	0.30417	0.0764	N	0.14661	0.345	0.40698	D	0.982452	B	0.17852	0.024	B	0.10450	0.005	T	0.06935	-1.0799	9	0.16420	T	0.52	-5.9549	8.1938	0.31385	0.1273:0.7306:0.0:0.1421	.	53	Q14119	VEZF1_HUMAN	H	53	.	ENSP00000258963:Q53H	Q	-	3	2	VEZF1	53415628	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	0.491000	0.22419	0.728000	0.32382	0.643000	0.83706	CAG		0.473	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			8	183	8	183	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	66972095	66972095	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:66972095G>T	ENST00000340001.4	-	39	5047	c.4836C>A	c.(4834-4836)ccC>ccA	p.P1612P	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.P1574P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1612					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ACTTCACCGAGGGATCAAAGT	0.413																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4834-4836)ccC>ccA		ATP-binding cassette, sub-family A (ABC1), member 9							57.0	55.0	56.0					17																	66972095		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66972095G>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4836C>A	17.37:g.66972095G>T						ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.P1574P	p.P1612P	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			39	5047	-	Breast(10;1.47e-12)		1612					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.4836C>A	CCDS11681.1																																																																																				0.413	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		5	41	5	41	---	---	---	---
ACOX1	51	broad.mit.edu	37	17	73975129	73975129	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:73975129C>A	ENST00000301608.4	-	1	86	c.26G>T	c.(25-27)cGg>cTg	p.R9L	TEN1_ENST00000416485.1_5'Flank|TEN1_ENST00000588202.1_5'Flank|TEN1-CDK3_ENST00000567351.1_RNA|ACOX1_ENST00000293217.5_Missense_Mutation_p.R9L|ACOX1_ENST00000537812.1_5'UTR|TEN1_ENST00000397640.1_5'Flank|ACOX1_ENST00000591857.1_5'UTR	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	9					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)	p.R9L(2)		large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	GGCGGAATCCCGCTCCCTGCG	0.662																																						ENST00000293217.5																			2	Substitution - Missense(2)	p.R9L(2)	lung(2)	large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						c.(25-27)cGg>cTg		acyl-CoA oxidase 1, palmitoyl							50.0	53.0	52.0					17																	73975129		2203	4300	6503	SO:0001583	missense	51				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding	g.chr17:73975129C>A	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.26G>T	17.37:g.73975129C>A	ENSP00000301608:p.Arg9Leu					ACOX1_ENST00000537812.1_5'UTR|ACOX1_ENST00000301608.4_Missense_Mutation_p.R9L|ACOX1_ENST00000591857.1_5'UTR	p.R9L	NM_004035.6	NP_004026.2	Q15067	ACOX1_HUMAN			1	315	-			9					A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	37	c.26G>T	CCDS11735.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278465	0.95459	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000539791	T;T	0.62364	0.03;0.03	4.74	3.77	0.43336	Acyl-CoA dehydrogenase/oxidase (1);	0.061486	0.64402	D	0.000004	D	0.82815	0.5119	H	0.94847	3.59	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.69307	0.922;0.963	D	0.87162	0.2215	10	0.87932	D	0	-19.7963	12.7417	0.57257	0.0:0.9203:0.0:0.0797	.	9;9	Q15067;Q15067-2	ACOX1_HUMAN;.	L	9	ENSP00000301608:R9L;ENSP00000293217:R9L	ENSP00000293217:R9L	R	-	2	0	ACOX1	71486724	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	6.381000	0.73163	1.212000	0.43366	0.643000	0.83706	CGG		0.662	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1			4	85	4	85	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19780663	19780663	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:19780663C>A	ENST00000269216.3	+	7	1942	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P555P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	555					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCAATCCCGAGAACAGCG	0.607																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1663-1665)ccC>ccA		GATA binding protein 6							99.0	89.0	93.0					18																	19780663		2203	4300	6503	SO:0001819	synonymous_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780663C>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1665C>A	18.37:g.19780663C>A						GATA6_ENST00000581694.1_Silent_p.P555P|RP11-627G18.1_ENST00000583442.1_RNA	p.P555P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	1942	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		555					B0YJ17|P78327	Silent	SNP	ENST00000269216.3	37	c.1665C>A	CCDS11872.1																																																																																				0.607	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		5	132	5	132	---	---	---	---
DSG2	1829	broad.mit.edu	37	18	29126129	29126129	+	Missense_Mutation	SNP	C	C	A	rs146402368	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:29126129C>A	ENST00000261590.8	+	15	2989	c.2780C>A	c.(2779-2781)cCa>cAa	p.P927Q	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	927					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTTCCTGACCCAATGGCTTCT	0.483																																						ENST00000261590.8																			0				breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49						c.(2779-2781)cCa>cAa		desmoglein 2							91.0	89.0	90.0					18																	29126129		1949	4147	6096	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29126129C>A	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2780C>A	18.37:g.29126129C>A	ENSP00000261590:p.Pro927Gln					RP11-75N4.2_ENST00000583706.1_RNA	p.P927Q	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2989	+			927					Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2780C>A	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550592	0.45383	.	.	ENSG00000046604	ENST00000261590	T	0.76060	-0.99	4.34	4.34	0.51931	.	0.122289	0.36703	N	0.002448	D	0.84261	0.5433	M	0.72894	2.215	0.80722	D	1	D	0.63880	0.993	D	0.62955	0.909	D	0.86392	0.1736	10	0.87932	D	0	.	17.757	0.88452	0.0:1.0:0.0:0.0	.	927	Q14126	DSG2_HUMAN	Q	927	ENSP00000261590:P927Q	ENSP00000261590:P927Q	P	+	2	0	DSG2	27380127	0.043000	0.20138	0.021000	0.16686	0.249000	0.25844	3.488000	0.53229	2.691000	0.91804	0.655000	0.94253	CCA		0.483	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		6	159	6	159	---	---	---	---
C18orf25	147339	broad.mit.edu	37	18	43820011	43820011	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:43820011C>A	ENST00000282059.6	+	3	1130	c.756C>A	c.(754-756)acC>acA	p.T252T	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	252										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTCTGACACCAACTCTGACC	0.443																																						ENST00000282059.6																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(754-756)acC>acA		chromosome 18 open reading frame 25							142.0	133.0	136.0					18																	43820011		1906	4121	6027	SO:0001819	synonymous_variant	147339							g.chr18:43820011C>A	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		ENST00000282059.6:c.756C>A	18.37:g.43820011C>A						C18orf25_ENST00000321319.6_Intron	p.T252T	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN			3	1130	+			252					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Silent	SNP	ENST00000282059.6	37	c.756C>A	CCDS42430.1																																																																																				0.443	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	NM_145055		6	138	6	138	---	---	---	---
ZCCHC2	54877	broad.mit.edu	37	18	60241887	60241887	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr18:60241887C>A	ENST00000269499.5	+	13	2991	c.2573C>A	c.(2572-2574)cCa>cAa	p.P858Q	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P537Q	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	858						cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GGTAGTTTCCCAGGCTCTCCT	0.502																																						ENST00000269499.5																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(2572-2574)cCa>cAa		zinc finger, CCHC domain containing 2							135.0	134.0	135.0					18																	60241887		2014	4183	6197	SO:0001583	missense	54877				cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr18:60241887C>A	AB051531	CCDS45880.1	18q21.33	2012-04-19			ENSG00000141664	ENSG00000141664		"""Zinc fingers, CCHC domain containing"""	22916	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 49"""	C18orf49		11214970	Standard	NM_017742		Approved	FLJ20281, KIAA1744, FLJ20222	uc002lip.4	Q9C0B9		ENST00000269499.5:c.2573C>A	18.37:g.60241887C>A	ENSP00000269499:p.Pro858Gln					ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P537Q	p.P858Q	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN			13	2991	+			858					B2RPG6|Q8N3S1|Q9NXF6	Missense_Mutation	SNP	ENST00000269499.5	37	c.2573C>A	CCDS45880.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768321	0.69878	.	.	ENSG00000141664	ENST00000269499	T	0.24538	1.85	5.39	5.39	0.77823	.	0.218496	0.39759	N	0.001264	T	0.39655	0.1086	L	0.27053	0.805	0.46011	D	0.998819	D	0.89917	1.0	D	0.69307	0.963	T	0.13045	-1.0524	10	0.45353	T	0.12	-12.9483	19.511	0.95141	0.0:1.0:0.0:0.0	.	858	Q9C0B9	ZCHC2_HUMAN	Q	858	ENSP00000269499:P858Q	ENSP00000269499:P858Q	P	+	2	0	ZCCHC2	58392867	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.649000	0.54417	2.675000	0.91044	0.655000	0.94253	CCA		0.502	ZCCHC2-005	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450083.1	NM_017742		5	90	5	90	---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5790299	5790299	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:5790299C>A	ENST00000309061.7	-	2	242	c.146G>T	c.(145-147)gGg>gTg	p.G49V	DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	49							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTCTCCTGCCCTTTGGCTTC	0.547																																						ENST00000309061.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(145-147)gGg>gTg		dihydrouridine synthase 3-like (S. cerevisiae)							77.0	72.0	74.0					19																	5790299		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790299C>A		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.146G>T	19.37:g.5790299C>A	ENSP00000311977:p.Gly49Val					DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V	p.G49V	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			2	242	-			49					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.146G>T	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	0.701	-0.790918	0.02884	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.24350	2.27;1.86	4.74	1.38	0.22167	.	0.299395	0.34959	N	0.003555	T	0.19208	0.0461	L	0.48642	1.525	0.20403	N	0.999909	B;P	0.39717	0.161;0.684	B;B	0.35727	0.107;0.209	T	0.09509	-1.0671	10	0.54805	T	0.06	-10.0473	8.2212	0.31543	0.0:0.7206:0.0:0.2794	.	49;49	Q96G46-3;Q96G46	.;DUS3L_HUMAN	V	49	ENSP00000311977:G49V;ENSP00000315558:G49V	ENSP00000311977:G49V	G	-	2	0	DUS3L	5741299	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.718000	0.25866	0.158000	0.19367	-0.748000	0.03510	GGG		0.547	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		11	64	11	64	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9082881	9082881	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:9082881G>T	ENST00000397910.4	-	1	9137	c.8934C>A	c.(8932-8934)ccC>ccA	p.P2978P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2979	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCCTGAAGTGGGGACTCTGG	0.502																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(8932-8934)ccC>ccA		mucin 16, cell surface associated							107.0	109.0	108.0					19																	9082881		2057	4227	6284	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9082881G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8934C>A	19.37:g.9082881G>T							p.P2978P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	9137	-			2979			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.8934C>A	CCDS54212.1																																																																																				0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	157	6	157	---	---	---	---
OR7D4	125958	broad.mit.edu	37	19	9324896	9324896	+	Silent	SNP	C	C	A	rs150001713		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:9324896C>A	ENST00000308682.2	-	1	646	c.618G>T	c.(616-618)ctG>ctT	p.L206L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GAAACACACCCAGCAGTGCCG	0.507																																						ENST00000308682.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						c.(616-618)ctG>ctT		olfactory receptor, family 7, subfamily D, member 4							96.0	90.0	92.0					19																	9324896		2203	4300	6503	SO:0001819	synonymous_variant	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324896C>A		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.618G>T	19.37:g.9324896C>A							p.L206L	NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN			1	646	-			206					A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Silent	SNP	ENST00000308682.2	37	c.618G>T	CCDS32901.1																																																																																				0.507	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			6	117	6	117	---	---	---	---
ICAM5	7087	broad.mit.edu	37	19	10404518	10404518	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:10404518A>C	ENST00000221980.4	+	7	1673	c.1610A>C	c.(1609-1611)gAg>gCg	p.E537A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	537	Ig-like C2-type 6.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCGTCATCGAGGGGCTGTTG	0.662																																						ENST00000221980.4																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21						c.(1609-1611)gAg>gCg		intercellular adhesion molecule 5, telencephalin							72.0	78.0	76.0					19																	10404518		2203	4300	6503	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404518A>C	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1610A>C	19.37:g.10404518A>C	ENSP00000221980:p.Glu537Ala						p.E537A	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		7	1673	+			537			Ig-like C2-type 6.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1610A>C	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	A	9.380	1.072640	0.20147	.	.	ENSG00000105376	ENST00000221980	T	0.08807	3.05	5.37	3.07	0.35406	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.354418	0.24005	N	0.042439	T	0.05456	0.0144	N	0.26130	0.795	0.27474	N	0.95277	B	0.31968	0.349	B	0.33846	0.171	T	0.35649	-0.9780	10	0.09590	T	0.72	-30.8883	8.4899	0.33093	0.674:0.0:0.0:0.326	.	537	Q9UMF0	ICAM5_HUMAN	A	537	ENSP00000221980:E537A	ENSP00000221980:E537A	E	+	2	0	ICAM5	10265518	0.999000	0.42202	0.712000	0.30502	0.064000	0.16182	1.646000	0.37249	0.867000	0.35654	0.368000	0.22195	GAG		0.662	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		21	93	21	93	---	---	---	---
ZNF440	126070	broad.mit.edu	37	19	11942943	11942943	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:11942943G>T	ENST00000304060.5	+	4	1116	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAAGCAGTGTGGGAAAGCATT	0.383																																						ENST00000304060.5																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(952-954)Ggg>Tgg		zinc finger protein 440							86.0	87.0	86.0					19																	11942943		2203	4300	6503	SO:0001583	missense	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11942943G>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.952G>T	19.37:g.11942943G>T	ENSP00000305373:p.Gly318Trp						p.G318W	NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN			4	1116	+			318					Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	37	c.952G>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	12.58	1.980424	0.34942	.	.	ENSG00000171295	ENST00000304060	T	0.22336	1.96	1.04	-0.0986	0.13627	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50222	0.1603	M	0.93808	3.46	0.30831	N	0.736701	D	0.89917	1.0	D	0.97110	1.0	T	0.51426	-0.8707	9	0.87932	D	0	.	6.6645	0.23032	0.1833:0.0:0.8167:0.0	.	318	Q8IYI8	ZN440_HUMAN	W	318	ENSP00000305373:G318W	ENSP00000305373:G318W	G	+	1	0	ZNF440	11803943	0.979000	0.34478	0.005000	0.12908	0.024000	0.10985	1.226000	0.32563	0.013000	0.14918	0.205000	0.17691	GGG		0.383	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		5	75	5	75	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461101	12461101	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:12461101T>C	ENST00000242804.4	-	6	1880	c.1298A>G	c.(1297-1299)tAt>tGt	p.Y433C	ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACATTCATAGGGTTTCTC	0.413																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(1297-1299)tAt>tGt		zinc finger protein 442							94.0	97.0	96.0					19																	12461101		2203	4300	6503	SO:0001583	missense	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461101T>C	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.1298A>G	19.37:g.12461101T>C	ENSP00000242804:p.Tyr433Cys					ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	p.Y433C	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1880	-			433					B4DJ48	Missense_Mutation	SNP	ENST00000242804.4	37	c.1298A>G	CCDS12271.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.839621	0.51057	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.25414	1.8;1.8	0.832	0.832	0.18867	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45074	0.1324	M	0.80332	2.49	0.30967	N	0.722984	D	0.89917	1.0	D	0.97110	1.0	T	0.47249	-0.9132	9	0.87932	D	0	.	2.9212	0.05770	0.4068:0.0:0.0:0.5932	.	433	Q9H7R0	ZN442_HUMAN	C	433;364	ENSP00000242804:Y433C;ENSP00000388634:Y364C	ENSP00000242804:Y433C	Y	-	2	0	ZNF442	12322101	0.001000	0.12720	0.953000	0.39169	0.793000	0.44817	0.188000	0.17018	0.617000	0.30160	0.260000	0.18958	TAT		0.413	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		4	87	4	87	---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13414690	13414690	+	Silent	SNP	C	C	A	rs376641545		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:13414690C>A	ENST00000360228.5	-	16	1994	c.1995G>T	c.(1993-1995)acG>acT	p.T665T	CACNA1A_ENST00000573710.2_Silent_p.T666T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	666					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.T666T(3)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	AGTCTTCGCCCGTCAGGATCT	0.597																																						ENST00000360228.5																			3	Substitution - coding silent(3)	p.T666T(3)	kidney(3)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1993-1995)acG>acT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						125.0	127.0	126.0					19																	13414690		2009	4165	6174	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13414690C>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1995G>T	19.37:g.13414690C>A						CACNA1A_ENST00000573710.2_Silent_p.T666T	p.T665T	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		16	1994	-			666					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.1995G>T	CCDS45998.1																																																																																				0.597	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		6	154	6	154	---	---	---	---
IL27RA	9466	broad.mit.edu	37	19	14157009	14157009	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:14157009G>T	ENST00000263379.2	+	7	937	c.812G>T	c.(811-813)tGg>tTg	p.W271L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	271					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GTCTGGTTCTGGGTTGGAGGT	0.552																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(811-813)tGg>tTg		interleukin 27 receptor, alpha							151.0	151.0	151.0					19																	14157009		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14157009G>T	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.812G>T	19.37:g.14157009G>T	ENSP00000263379:p.Trp271Leu						p.W271L	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			7	937	+			271					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.812G>T	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514252	0.04200	.	.	ENSG00000104998	ENST00000263379	T	0.60920	0.15	4.52	-2.07	0.07276	.	1.854710	0.03148	N	0.167646	T	0.33147	0.0853	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.18871	0.023	T	0.11251	-1.0595	10	0.23891	T	0.37	-0.8169	4.7645	0.13125	0.4514:0.3709:0.1777:0.0	.	271	Q6UWB1	I27RA_HUMAN	L	271	ENSP00000263379:W271L	ENSP00000263379:W271L	W	+	2	0	IL27RA	14018009	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.447000	0.21710	-0.166000	0.10890	-0.259000	0.10710	TGG		0.552	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		7	273	7	273	---	---	---	---
TECR	9524	broad.mit.edu	37	19	14674848	14674848	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:14674848C>A	ENST00000215567.5	+	6	459	c.322C>A	c.(322-324)Cga>Aga	p.R108R	TECR_ENST00000436007.2_Silent_p.R123R|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase	108					cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						CTTCTACTTCCGAGTGCCCTT	0.557																																						ENST00000436007.2																			0				endometrium(1)|large_intestine(1)|ovary(1)	3						c.(367-369)Cga>Aga		trans-2,3-enoyl-CoA reductase							187.0	198.0	194.0					19																	14674848		2203	4300	6503	SO:0001819	synonymous_variant	9524				fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity	g.chr19:14674848C>A	AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.322C>A	19.37:g.14674848C>A						TECR_ENST00000215567.5_Silent_p.R108R|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR	p.R123R			Q9NZ01	TECR_HUMAN			7	491	+			108					B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	Silent	SNP	ENST00000215567.5	37	c.367C>A	CCDS12313.1																																																																																				0.557	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466000.1	NM_138501		6	286	6	286	---	---	---	---
OR10H4	126541	broad.mit.edu	37	19	16060285	16060285	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:16060285G>T	ENST00000322107.1	+	1	468	c.468G>T	c.(466-468)atG>atT	p.M156I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M156I(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GCTCAGTCATGGGGATGATGG	0.522																																						ENST00000322107.1																			1	Substitution - Missense(1)	p.M156I(1)	urinary_tract(1)	breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(466-468)atG>atT		olfactory receptor, family 10, subfamily H, member 4							208.0	174.0	185.0					19																	16060285		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060285G>T	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.468G>T	19.37:g.16060285G>T	ENSP00000318834:p.Met156Ile						p.M156I	NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN			1	468	+			156					Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.468G>T	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	2.877	-0.232724	0.05983	.	.	ENSG00000176231	ENST00000322107	T	0.00044	8.83	1.53	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.131231	0.34002	N	0.004353	T	0.00039	0.0001	N	0.01431	-0.87	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.04413	-1.0953	10	0.22109	T	0.4	.	5.7094	0.17927	0.0:0.3455:0.6545:0.0	.	156	Q8NGA5	O10H4_HUMAN	I	156	ENSP00000318834:M156I	ENSP00000318834:M156I	M	+	3	0	OR10H4	15921285	0.000000	0.05858	0.887000	0.34795	0.578000	0.36192	-0.968000	0.03817	0.828000	0.34709	0.471000	0.43371	ATG		0.522	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			6	131	6	131	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17441791	17441791	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:17441791C>A	ENST00000159087.4	-	8	997	c.839G>T	c.(838-840)cGg>cTg	p.R280L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	280					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGAAACATCCCGGCTTGTCTG	0.572																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(838-840)cGg>cTg		anoctamin 8							153.0	163.0	160.0					19																	17441791		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17441791C>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.839G>T	19.37:g.17441791C>A	ENSP00000159087:p.Arg280Leu						p.R280L	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			8	997	-			280					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.839G>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	c	18.73	3.686003	0.68157	.	.	ENSG00000074855	ENST00000159087	T	0.64438	-0.1	4.59	3.55	0.40652	.	0.066492	0.64402	D	0.000010	T	0.66665	0.2812	L	0.48218	1.51	0.34833	D	0.739928	P	0.48911	0.917	P	0.57324	0.818	T	0.74197	-0.3743	10	0.49607	T	0.09	.	10.4298	0.44400	0.0:0.9013:0.0:0.0987	.	280	Q9HCE9	ANO8_HUMAN	L	280	ENSP00000159087:R280L	ENSP00000159087:R280L	R	-	2	0	ANO8	17302791	0.995000	0.38212	0.995000	0.50966	0.753000	0.42808	3.043000	0.49823	0.925000	0.37094	0.306000	0.20318	CGG		0.572	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		6	173	6	173	---	---	---	---
UPF1	5976	broad.mit.edu	37	19	18976574	18976574	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:18976574C>A	ENST00000599848.1	+	22	3466	c.3257C>A	c.(3256-3258)cCg>cAg	p.P1086Q	UPF1_ENST00000262803.5_Missense_Mutation_p.P1075Q			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1086	Gln/Ser-rich.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTCTCCCAGCCGGAGCTGTCC	0.647																																						ENST00000262803.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(3223-3225)cCg>cAg		UPF1 regulator of nonsense transcripts homolog (yeast)							37.0	44.0	42.0					19																	18976574		2200	4293	6493	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	g.chr19:18976574C>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.3257C>A	19.37:g.18976574C>A	ENSP00000470142:p.Pro1086Gln					UPF1_ENST00000599848.1_Missense_Mutation_p.P1086Q	p.P1075Q	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN			22	3496	+			1086			Gln/Ser-rich.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.3224C>A		.	.	.	.	.	.	.	.	.	.	c	17.17	3.320359	0.60634	.	.	ENSG00000005007	ENST00000262803	D	0.89875	-2.58	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	N	0.22421	0.69	0.80722	D	1	P;P	0.49783	0.928;0.898	B;P	0.54706	0.397;0.759	D	0.84076	0.0382	10	0.14656	T	0.56	-22.1667	16.7116	0.85387	0.0:1.0:0.0:0.0	.	1086;1075	Q92900;Q92900-2	RENT1_HUMAN;.	Q	1075	ENSP00000262803:P1075Q	ENSP00000262803:P1075Q	P	+	2	0	UPF1	18837574	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.765000	0.68834	2.285000	0.76669	0.479000	0.44913	CCG		0.647	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911		4	86	4	86	---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19654493	19654493	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:19654493C>A	ENST00000291495.5	+	8	1224	c.1139C>A	c.(1138-1140)cCa>cAa	p.P380Q	CILP2_ENST00000586018.1_Missense_Mutation_p.P386Q	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	380						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TCCCCAGCCCCAGGCCAGCCA	0.632																																						ENST00000586018.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1156-1158)cCa>cAa		cartilage intermediate layer protein 2							107.0	132.0	124.0					19																	19654493		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654493C>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1139C>A	19.37:g.19654493C>A	ENSP00000291495:p.Pro380Gln					CILP2_ENST00000291495.5_Missense_Mutation_p.P380Q	p.P386Q			Q8IUL8	CILP2_HUMAN			8	1259	+			380					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1157C>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.296329	0.23650	.	.	ENSG00000160161	ENST00000291495	T	0.46063	0.88	4.22	3.09	0.35607	.	0.185678	0.43260	D	0.000582	T	0.32071	0.0817	L	0.48362	1.52	0.31283	N	0.690394	B;B	0.22683	0.073;0.073	B;B	0.19946	0.02;0.027	T	0.25363	-1.0134	10	0.30078	T	0.28	-17.2733	8.4812	0.33043	0.2317:0.7683:0.0:0.0	.	380;380	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	Q	380	ENSP00000291495:P380Q	ENSP00000291495:P380Q	P	+	2	0	CILP2	19515493	0.133000	0.22466	0.873000	0.34254	0.516000	0.34256	1.563000	0.36364	1.900000	0.55004	0.423000	0.28283	CCA		0.632	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221		9	347	9	347	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36046700	36046700	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:36046700C>A	ENST00000262623.3	-	13	1912	c.1884G>T	c.(1882-1884)acG>acT	p.T628T		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	628					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GGTGGTCACCCGTTACCATGA	0.602																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(1882-1884)acG>acT		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						155.0	145.0	148.0					19																	36046700		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36046700C>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.1884G>T	19.37:g.36046700C>A							p.T628T	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		13	1912	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		628					O00738	Silent	SNP	ENST00000262623.3	37	c.1884G>T	CCDS12467.1																																																																																				0.602	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		5	216	5	216	---	---	---	---
ARHGAP33	115703	broad.mit.edu	37	19	36278629	36278629	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:36278629C>A	ENST00000007510.4	+	21	3306	c.3162C>A	c.(3160-3162)ccC>ccA	p.P1054P	ARHGAP33_ENST00000314737.5_Silent_p.P893P|ARHGAP33_ENST00000378944.5_Silent_p.P890P|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1054					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GCTTGTACCCCCTGGGCCCCC	0.667																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3160-3162)ccC>ccA		Rho GTPase activating protein 33							20.0	25.0	23.0					19																	36278629		2193	4287	6480	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278629C>A	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3162C>A	19.37:g.36278629C>A						ARHGAP33_ENST00000378944.5_Silent_p.P890P|ARHGAP33_ENST00000314737.5_Silent_p.P893P	p.P1054P			O14559	RHG33_HUMAN			21	3306	+			1054					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3162C>A																																																																																					0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		5	57	5	57	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882639	38882639	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:38882639C>A	ENST00000338502.4	+	2	334	c.231C>A	c.(229-231)ccC>ccA	p.P77P	SPRED3_ENST00000587013.1_Silent_p.P121P|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000586301.1_Silent_p.P77P	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	77	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGTGAATCCCATCTTTCACC	0.547																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(361-363)ccC>ccA		sprouty-related, EVH1 domain containing 3							130.0	128.0	128.0					19																	38882639		2011	4184	6195	SO:0001819	synonymous_variant	399473				multicellular organismal development			g.chr19:38882639C>A		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.231C>A	19.37:g.38882639C>A						SPRED3_ENST00000586301.1_Silent_p.P77P|SPRED3_ENST00000338502.4_Silent_p.P77P|SPRED3_ENST00000587564.2_3'UTR	p.P121P			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		2	441	+	all_cancers(60;3.4e-06)		77			Ser-rich.		Q2MJR1	Silent	SNP	ENST00000338502.4	37	c.363C>A	CCDS42560.1																																																																																				0.547	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		7	139	7	139	---	---	---	---
HNRNPUL1	11100	broad.mit.edu	37	19	41778018	41778018	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:41778018C>A	ENST00000392006.3	+	3	623	c.450C>A	c.(448-450)ccC>ccA	p.P150P	HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000352456.3_Silent_p.P50P|HNRNPUL1_ENST00000378215.4_Silent_p.P107P|HNRNPUL1_ENST00000595018.1_Silent_p.P50P|HNRNPUL1_ENST00000263367.3_Silent_p.P61P|HNRNPUL1_ENST00000602130.1_Silent_p.P150P|HNRNPUL1_ENST00000593587.1_Silent_p.P50P	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	150					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AAGGAGCACCCACCAGCTTCC	0.507																																						ENST00000392006.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(448-450)ccC>ccA		heterogeneous nuclear ribonucleoprotein U-like 1							116.0	123.0	120.0					19																	41778018		2203	4300	6503	SO:0001819	synonymous_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41778018C>A	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.450C>A	19.37:g.41778018C>A						HNRNPUL1_ENST00000593587.1_Silent_p.P50P|HNRNPUL1_ENST00000263367.3_Silent_p.P61P|HNRNPUL1_ENST00000602130.1_Silent_p.P150P|HNRNPUL1_ENST00000378215.4_Silent_p.P107P|HNRNPUL1_ENST00000352456.3_Silent_p.P50P|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Silent_p.P50P	p.P150P	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN			3	623	+			150					B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Silent	SNP	ENST00000392006.3	37	c.450C>A	CCDS12576.1																																																																																				0.507	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		7	132	7	132	---	---	---	---
CEACAM3	1084	broad.mit.edu	37	19	42314040	42314040	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:42314040C>A	ENST00000357396.3	+	4	821	c.580C>A	c.(580-582)Caa>Aaa	p.Q194K	CEACAM3_ENST00000344550.4_Intron|CEACAM3_ENST00000221999.4_Intron	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	194						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						GCAGCAGCCCCAAGCCCTTGC	0.597																																						ENST00000357396.3																			0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(580-582)Caa>Aaa		carcinoembryonic antigen-related cell adhesion molecule 3							152.0	171.0	165.0					19																	42314040		2202	4299	6501	SO:0001583	missense	1084					integral to membrane		g.chr19:42314040C>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.580C>A	19.37:g.42314040C>A	ENSP00000349971:p.Gln194Lys					CEACAM3_ENST00000221999.4_Intron|CEACAM3_ENST00000344550.4_Intron	p.Q194K	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN			4	821	+			194					G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.580C>A	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	C	5.535	0.283690	0.10458	.	.	ENSG00000170956	ENST00000357396	T	0.01113	5.32	2.0	2.0	0.26442	.	.	.	.	.	T	0.00936	0.0031	N	0.19112	0.55	0.20074	N	0.999934	B	0.31931	0.347	B	0.28305	0.088	T	0.50634	-0.8805	9	0.35671	T	0.21	.	7.5028	0.27528	0.0:1.0:0.0:0.0	.	194	P40198	CEAM3_HUMAN	K	194	ENSP00000349971:Q194K	ENSP00000349971:Q194K	Q	+	1	0	CEACAM3	47005880	0.000000	0.05858	0.014000	0.15608	0.374000	0.29953	0.260000	0.18424	1.440000	0.47531	0.407000	0.27541	CAA		0.597	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815		8	253	8	253	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42858806	42858806	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:42858806C>A	ENST00000251268.6	+	23	4078	c.4078C>A	c.(4078-4080)Cgc>Agc	p.R1360S	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1293S	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1360	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCAGTCGGACCGCAGCCTCAT	0.602																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3877-3879)Cgc>Agc		multiple EGF-like-domains 8							202.0	190.0	194.0					19																	42858806		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42858806C>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4078C>A	19.37:g.42858806C>A	ENSP00000251268:p.Arg1360Ser					MEGF8_ENST00000251268.6_Missense_Mutation_p.R1360S	p.R1293S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			22	4512	+		Prostate(69;0.00682)	1360			CUB 2.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.3877C>A		.	.	.	.	.	.	.	.	.	.	C	21.4	4.137603	0.77775	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.23754	1.89;1.89	4.29	3.25	0.37280	CUB (1);	0.077070	0.52532	D	0.000078	T	0.28267	0.0698	L	0.29908	0.895	0.80722	D	1	D;D	0.61697	0.966;0.99	P;P	0.58454	0.677;0.839	T	0.02275	-1.1184	10	0.14252	T	0.57	-18.7145	11.1235	0.48304	0.0:0.9079:0.0:0.0921	.	1360;1293	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	S	1293;1360	ENSP00000334219:R1293S;ENSP00000251268:R1360S	ENSP00000251268:R1360S	R	+	1	0	MEGF8	47550646	1.000000	0.71417	0.968000	0.41197	0.901000	0.52897	3.503000	0.53340	1.030000	0.39839	0.563000	0.77884	CGC		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		8	288	8	288	---	---	---	---
CA11	770	broad.mit.edu	37	19	49143086	49143086	+	Missense_Mutation	SNP	G	G	T	rs541610646		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:49143086G>T	ENST00000084798.4	-	5	1205	c.526C>A	c.(526-528)Cgc>Agc	p.R176S	DBP_ENST00000222122.5_5'Flank|SEC1P_ENST00000430145.2_RNA|DBP_ENST00000601104.1_5'Flank	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	176						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	TTGGGGCCGCGGGAGGCAGCG	0.622																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(526-528)Cgc>Agc		carbonic anhydrase XI							61.0	67.0	65.0					19																	49143086		2203	4300	6503	SO:0001583	missense	770					extracellular region		g.chr19:49143086G>T	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.526C>A	19.37:g.49143086G>T	ENSP00000084798:p.Arg176Ser					SEC1P_ENST00000430145.2_RNA	p.R176S	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	5	1205	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	176					O60596|Q6FHI1|Q9UEC4	Missense_Mutation	SNP	ENST00000084798.4	37	c.526C>A	CCDS12729.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535812	0.27475	.	.	ENSG00000063180	ENST00000084798	T	0.64991	-0.13	3.73	-2.98	0.05513	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.066013	0.56097	D	0.000029	T	0.41282	0.1152	N	0.11756	0.17	0.09310	N	0.999997	P	0.38048	0.616	B	0.43783	0.431	T	0.48927	-0.8991	10	0.16420	T	0.52	.	11.2624	0.49091	0.0:0.0:0.2703:0.7297	.	176	O75493	CAH11_HUMAN	S	176	ENSP00000084798:R176S	ENSP00000084798:R176S	R	-	1	0	CA11	53834898	0.964000	0.33143	0.043000	0.18650	0.371000	0.29859	0.328000	0.19681	-0.290000	0.09025	0.462000	0.41574	CGC		0.622	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		5	95	5	95	---	---	---	---
PPP1R15A	23645	broad.mit.edu	37	19	49379177	49379177	+	Missense_Mutation	SNP	C	C	A	rs386810065|rs35007147	byFrequency	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:49379177C>A	ENST00000200453.5	+	3	2241	c.1972C>A	c.(1972-1974)Cgc>Agc	p.R658S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	658					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CACACCTTCCCGCTCGTCTGC	0.572																																						ENST00000200453.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1972-1974)Cgc>Agc		protein phosphatase 1, regulatory subunit 15A							76.0	77.0	77.0					19																	49379177		2203	4300	6503	SO:0001583	missense	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49379177C>A	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1972C>A	19.37:g.49379177C>A	ENSP00000200453:p.Arg658Ser						p.R658S	NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	3	2241	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	658					B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	c.1972C>A	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215715	0.22373	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05025	3.51	4.23	-2.92	0.05615	.	1.484980	0.04312	N	0.349124	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37686	-0.9695	10	0.06891	T	0.86	0.1651	1.0078	0.01491	0.1531:0.3328:0.1494:0.3647	.	658	O75807	PR15A_HUMAN	S	658;498;616	ENSP00000200453:R658S	ENSP00000200453:R658S	R	+	1	0	PPP1R15A	54070989	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.135000	0.03225	-0.387000	0.07809	-0.888000	0.02935	CGC		0.572	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		5	99	5	99	---	---	---	---
NCR1	9437	broad.mit.edu	37	19	55423580	55423580	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:55423580C>A	ENST00000291890.4	+	6	765	c.727C>A	c.(727-729)Cag>Aag	p.Q243K	NCR1_ENST00000594765.1_Missense_Mutation_p.Q242K|NCR1_ENST00000350790.5_Missense_Mutation_p.Q148K|NCR1_ENST00000598576.1_Missense_Mutation_p.Q230K|NCR1_ENST00000357397.5_Missense_Mutation_p.Q136K|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.Q242K	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	243					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GACGGGACTCCAGAAAGGTAA	0.517																																						ENST00000594765.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18						c.(724-726)Cag>Aag		natural cytotoxicity triggering receptor 1							121.0	112.0	115.0					19																	55423580		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55423580C>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.727C>A	19.37:g.55423580C>A	ENSP00000291890:p.Gln243Lys					NCR1_ENST00000598576.1_Missense_Mutation_p.Q230K|NCR1_ENST00000357397.5_Missense_Mutation_p.Q136K|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.Q242K|NCR1_ENST00000350790.5_Missense_Mutation_p.Q148K|NCR1_ENST00000291890.4_Missense_Mutation_p.Q243K	p.Q242K			O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	6	749	+			243					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.724C>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	C	9.841	1.191080	0.21954	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000350790;ENST00000357397	T;T;T;T	0.00534	7.04;7.06;7.0;6.74	2.54	2.54	0.30619	.	41.813300	0.00166	N	0.000001	T	0.00845	0.0028	L	0.53729	1.69	0.09310	N	1	P;P;P;P	0.52316	0.952;0.92;0.908;0.851	P;B;B;B	0.45610	0.487;0.292;0.337;0.182	T	0.53655	-0.8408	10	0.15499	T	0.54	.	8.7866	0.34825	0.0:1.0:0.0:0.0	.	136;148;242;243	O76036-5;B0V3L2;O76036-6;O76036	.;.;.;NCTR1_HUMAN	K	243;242;148;136	ENSP00000291890:Q243K;ENSP00000404434:Q242K;ENSP00000344358:Q148K;ENSP00000349972:Q136K	ENSP00000291890:Q243K	Q	+	1	0	NCR1	60115392	0.001000	0.12720	0.003000	0.11579	0.061000	0.15899	0.848000	0.27710	1.755000	0.51935	0.650000	0.86243	CAG		0.517	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			5	101	5	101	---	---	---	---
ZNF835	90485	broad.mit.edu	37	19	57174975	57174975	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:57174975G>T	ENST00000537055.2	-	2	1823	c.1592C>A	c.(1591-1593)cCg>cAg	p.P531Q		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	531					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGTCCACGCGGGTTTCTGCC	0.577																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(1591-1593)cCg>cAg		zinc finger protein 835							52.0	55.0	54.0					19																	57174975		2075	4224	6299	SO:0001583	missense	90485							g.chr19:57174975G>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.1592C>A	19.37:g.57174975G>T	ENSP00000444747:p.Pro531Gln						p.P531Q	NM_001005850.2	NP_001005850.2					2	1823	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.1592C>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	9.181	1.023505	0.19433	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07567	3.18	1.83	-3.66	0.04489	.	.	.	.	.	T	0.07052	0.0179	N	0.14661	0.345	0.09310	N	1	D	0.67145	0.996	P	0.55161	0.77	T	0.18777	-1.0326	9	0.52906	T	0.07	.	2.0813	0.03635	0.5443:0.1851:0.1448:0.1258	.	553	Q9Y2P0	ZN835_HUMAN	Q	553;531	ENSP00000444747:P531Q	ENSP00000341756:P553Q	P	-	2	0	ZNF835	61866787	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.636000	0.02016	-3.459000	0.00159	-0.369000	0.07265	CCG		0.577	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		4	79	4	79	---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5965430	5965430	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:5965430G>T	ENST00000378896.3	+	15	2114	c.1737G>T	c.(1735-1737)atG>atT	p.M579I	MCM8_ENST00000378883.1_Missense_Mutation_p.M532I|MCM8_ENST00000378886.2_Missense_Mutation_p.M619I|MCM8_ENST00000265187.4_Missense_Mutation_p.M563I	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	579	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTCATAGAATGGGGAGTGCAC	0.358																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1735-1737)atG>atT		minichromosome maintenance complex component 8							138.0	127.0	131.0					20																	5965430		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5965430G>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1737G>T	20.37:g.5965430G>T	ENSP00000368174:p.Met579Ile					MCM8_ENST00000378883.1_Missense_Mutation_p.M532I|MCM8_ENST00000378886.2_Missense_Mutation_p.M619I|MCM8_ENST00000265187.4_Missense_Mutation_p.M563I	p.M579I	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			15	2114	+			579			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1737G>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150611	0.57151	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	5.87	4.88	0.63580	ATPase, AAA+ type, core (1);	0.035312	0.85682	D	0.000000	T	0.10078	0.0247	L	0.37507	1.11	0.80722	D	1	B;B;B;B	0.16603	0.018;0.008;0.001;0.013	B;B;B;B	0.24269	0.03;0.042;0.018;0.052	T	0.09684	-1.0663	10	0.56958	D	0.05	-22.4552	17.0006	0.86380	0.0:0.0:0.8724:0.1276	.	532;619;563;579	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	I	579;532;619;563	ENSP00000368174:M579I;ENSP00000368161:M532I;ENSP00000368164:M619I;ENSP00000265187:M563I	ENSP00000265187:M563I	M	+	3	0	MCM8	5913430	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.160000	0.77495	2.941000	0.99782	0.655000	0.94253	ATG		0.358	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		5	72	5	72	---	---	---	---
L3MBTL1	26013	broad.mit.edu	37	20	42162929	42162929	+	Silent	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:42162929C>A	ENST00000427442.2	+	15	1698	c.1539C>A	c.(1537-1539)ccC>ccA	p.P513P	L3MBTL1_ENST00000418998.1_Silent_p.P513P|L3MBTL1_ENST00000444063.1_Silent_p.P445P|L3MBTL1_ENST00000373135.3_Silent_p.P445P|L3MBTL1_ENST00000373134.1_Silent_p.P445P			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	445					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TGCAGCGACCCCCTCACAGCT	0.637																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1333-1335)ccC>ccA		l(3)mbt-like 1 (Drosophila)							33.0	35.0	34.0					20																	42162929		2203	4300	6503	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42162929C>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1539C>A	20.37:g.42162929C>A						L3MBTL1_ENST00000427442.2_Silent_p.P513P|L3MBTL1_ENST00000373134.1_Silent_p.P445P|L3MBTL1_ENST00000373135.3_Silent_p.P445P|L3MBTL1_ENST00000418998.1_Silent_p.P513P	p.P445P			Q9Y468	LMBL1_HUMAN			12	1467	+			445					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1335C>A	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053379	0.19907	.	.	ENSG00000185513	ENST00000445228	.	.	.	5.39	-2.09	0.07232	.	0.163234	0.53938	D	0.000042	T	0.45518	0.1346	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43798	-0.9369	6	0.72032	D	0.01	.	0.0603	0.00015	0.3162:0.1971:0.2223:0.2643	.	.	.	.	H	136	.	ENSP00000412938:P136H	P	+	2	0	L3MBTL1	41596343	0.000000	0.05858	0.993000	0.49108	0.961000	0.63080	-1.856000	0.01662	-0.128000	0.11641	-0.150000	0.13652	CCC		0.637	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		5	53	5	53	---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60575644	60575644	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr20:60575644G>T	ENST00000252996.4	-	10	2619	c.2620C>A	c.(2620-2622)Ctc>Atc	p.L874I		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	874					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GGCGCTTGGAGGAGGAAGGTT	0.463																																						ENST00000252996.4																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2620-2622)Ctc>Atc		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							143.0	135.0	138.0					20																	60575644		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60575644G>T	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2620C>A	20.37:g.60575644G>T	ENSP00000252996:p.Leu874Ile						p.L874I	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		10	2619	-	Breast(26;1e-08)							A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.2620C>A	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288654	0.40494	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.25414	1.81;1.8	5.16	4.21	0.49690	Histone-fold (2);Transcription initiation factor TFIID component TAF4 (1);	0.195679	0.44285	D	0.000473	T	0.22936	0.0554	L	0.43152	1.355	0.36308	D	0.857448	P	0.39352	0.669	B	0.41374	0.355	T	0.16541	-1.0399	10	0.21014	T	0.42	-6.5309	10.6951	0.45894	0.1679:0.0:0.8321:0.0	.	874	O00268	TAF4_HUMAN	I	874;738	ENSP00000252996:L874I;ENSP00000399091:L738I	ENSP00000252996:L874I	L	-	1	0	TAF4	60009039	1.000000	0.71417	0.991000	0.47740	0.799000	0.45148	3.482000	0.53186	1.166000	0.42689	0.561000	0.74099	CTC		0.463	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		5	85	5	85	---	---	---	---
BACE2	25825	broad.mit.edu	37	21	42598245	42598245	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr21:42598245C>A	ENST00000330333.6	+	2	828	c.365C>A	c.(364-366)cCg>cAg	p.P122Q	BACE2_ENST00000328735.6_Missense_Mutation_p.P122Q|BACE2_ENST00000347667.5_Missense_Mutation_p.P122Q	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	122					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GCAGGAACCCCGCACTCCTAC	0.463																																						ENST00000347667.5																			0				endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(364-366)cCg>cAg		beta-site APP-cleaving enzyme 2							107.0	101.0	103.0					21																	42598245		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42598245C>A	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.365C>A	21.37:g.42598245C>A	ENSP00000332979:p.Pro122Gln					BACE2_ENST00000328735.6_Missense_Mutation_p.P122Q|BACE2_ENST00000330333.6_Missense_Mutation_p.P122Q	p.P122Q	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN			2	828	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)						A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.365C>A	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186146	0.38609	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.55760	0.5;0.5;0.5	4.74	4.74	0.60224	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.124823	0.56097	D	0.000038	T	0.63070	0.2480	L	0.45285	1.41	0.46725	D	0.999173	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.75484	0.923;0.974;0.986	T	0.59005	-0.7535	10	0.27785	T	0.31	.	14.4389	0.67301	0.0:1.0:0.0:0.0	.	122;122;122	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	Q	122;122;122;27	ENSP00000332979:P122Q;ENSP00000327528:P122Q;ENSP00000333854:P122Q	ENSP00000333854:P122Q	P	+	2	0	BACE2	41520115	0.862000	0.29867	0.181000	0.23098	0.110000	0.19582	2.660000	0.46749	2.181000	0.69327	0.462000	0.41574	CCG		0.463	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			5	93	5	93	---	---	---	---
IGLV3-10	28803	broad.mit.edu	37	22	23154528	23154528	+	RNA	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:23154528C>A	ENST00000390315.2	+	0	132									immunoglobulin lambda variable 3-10																		GTCAGTGTCCCCAGGACAAAC	0.547																																						ENST00000390315.2																			0																				90.0	87.0	88.0					22																	23154528		1916	4144	6060			28803							g.chr22:23154528C>A	X97464		22q11.2	2012-02-08			ENSG00000211669	ENSG00000211669		"""Immunoglobulins / IGL locus"""	5897	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151237		22.37:g.23154528C>A														0	132	+									RNA	SNP	ENST00000390315.2	37																																																																																						0.547	IGLV3-10-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321842.1	NG_000002		6	111	6	111	---	---	---	---
LIF	3976	broad.mit.edu	37	22	30639684	30639684	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:30639684C>A	ENST00000249075.3	-	3	720	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	RP1-102K2.8_ENST00000593843.1_RNA|LIF_ENST00000403987.3_3'UTR|RP1-102K2.8_ENST00000608354.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	189					blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			TTATACTTCCCCAGGAGTTGA	0.567																																						ENST00000249075.3																			0				breast(1)|lung(3)|skin(3)	7						c.(565-567)Ggg>Tgg		leukemia inhibitory factor							139.0	128.0	131.0					22																	30639684		2203	4300	6503	SO:0001583	missense	3976				immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding	g.chr22:30639684C>A		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.565G>T	22.37:g.30639684C>A	ENSP00000249075:p.Gly189Trp					LIF_ENST00000403987.3_3'UTR	p.G189W	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	Epithelial(10;0.171)		3	720	-			189					B2RCW7|B5MC23|Q52LZ2	Missense_Mutation	SNP	ENST00000249075.3	37	c.565G>T	CCDS13872.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611444	0.66558	.	.	ENSG00000128342	ENST00000249075	T	0.78707	-1.2	4.99	4.99	0.66335	Leukemia inhibitory factor /oncostatin, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.368895	0.26525	N	0.023882	D	0.85292	0.5663	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86036	0.1516	10	0.72032	D	0.01	-2.0736	8.8459	0.35170	0.0:0.8927:0.0:0.1073	.	189	P15018	LIF_HUMAN	W	189	ENSP00000249075:G189W	ENSP00000249075:G189W	G	-	1	0	LIF	28969684	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	1.486000	0.35530	2.294000	0.77228	0.561000	0.74099	GGG		0.567	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		6	108	6	108	---	---	---	---
NAGA	4668	broad.mit.edu	37	22	42459019	42459019	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:42459019C>A	ENST00000396398.3	-	7	1301	c.769G>T	c.(769-771)Ggg>Tgg	p.G257W	NAGA_ENST00000402937.1_Missense_Mutation_p.G257W|NAGA_ENST00000403363.1_Missense_Mutation_p.G257W	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	257					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						CCAAAGTTCCCAATGAGCAGC	0.577																																						ENST00000396398.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(769-771)Ggg>Tgg		N-acetylgalactosaminidase, alpha-							42.0	40.0	41.0					22																	42459019		2203	4300	6503	SO:0001583	missense	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42459019C>A		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.769G>T	22.37:g.42459019C>A	ENSP00000379680:p.Gly257Trp					NAGA_ENST00000403363.1_Missense_Mutation_p.G257W|NAGA_ENST00000402937.1_Missense_Mutation_p.G257W	p.G257W	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN			7	1301	-			257						Missense_Mutation	SNP	ENST00000396398.3	37	c.769G>T	CCDS14030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.892913|4.892913	0.91889|0.91889	.|.	.|.	ENSG00000198951|ENSG00000198951	ENST00000396398;ENST00000403363;ENST00000402937|ENST00000481068	D;D;D|.	0.99895|.	-7.59;-7.59;-7.59|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91710|0.91710	0.7379|0.7379	H|H	0.99273|0.99273	4.495|4.495	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.76071|.	0.987|.	D|D	0.94838|0.94838	0.8002|0.8002	10|5	0.87932|.	D|.	0|.	-26.0598|-26.0598	19.7857|19.7857	0.96434|0.96434	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	257|.	P17050|.	NAGAB_HUMAN|.	W|L	257|134	ENSP00000379680:G257W;ENSP00000385283:G257W;ENSP00000384603:G257W|.	ENSP00000379680:G257W|.	G|W	-|-	1|2	0|0	NAGA|NAGA	40788965|40788965	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	7.754000|7.754000	0.85163|0.85163	2.684000|2.684000	0.91462|0.91462	0.556000|0.556000	0.70494|0.70494	GGG|TGG		0.577	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			4	29	4	29	---	---	---	---
RIBC2	26150	broad.mit.edu	37	22	45813805	45813805	+	Missense_Mutation	SNP	C	C	A	rs137932273		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr22:45813805C>A	ENST00000342894.3	+	3	730	c.316C>A	c.(316-318)Cgt>Agt	p.R106S	RIBC2_ENST00000538017.1_Missense_Mutation_p.R174S			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	106						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAAGAACGCCCGTGCTGAACA	0.418																																						ENST00000342894.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10						c.(316-318)Cgt>Agt		RIB43A domain with coiled-coils 2							33.0	34.0	34.0					22																	45813805		2203	4296	6499	SO:0001583	missense	26150							g.chr22:45813805C>A	AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 11"""	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.316C>A	22.37:g.45813805C>A	ENSP00000342529:p.Arg106Ser					RIBC2_ENST00000538017.1_Missense_Mutation_p.R174S	p.R106S			Q9H4K1	RIBC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	3	730	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	106					Q6ICD0|Q9Y413	Missense_Mutation	SNP	ENST00000342894.3	37	c.316C>A		.	.	.	.	.	.	.	.	.	.	C	10.51	1.370934	0.24771	.	.	ENSG00000128408	ENST00000342894;ENST00000538017	T;T	0.22743	1.94;1.94	4.6	3.58	0.41010	.	0.463445	0.18560	N	0.137658	T	0.10637	0.0260	.	.	.	0.19300	N	0.999975	B	0.31859	0.343	B	0.32864	0.154	T	0.24621	-1.0155	9	0.09338	T	0.73	-1.2724	9.5593	0.39360	0.0:0.8323:0.0:0.1677	.	106	Q9H4K1	RIBC2_HUMAN	S	106;174	ENSP00000342529:R106S;ENSP00000444196:R174S	ENSP00000342529:R106S	R	+	1	0	RIBC2	44192469	0.009000	0.17119	0.204000	0.23530	0.077000	0.17291	0.683000	0.25349	2.067000	0.61834	0.563000	0.77884	CGT		0.418	RIBC2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000322250.1	NM_015653		3	23	3	23	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123200045	123200045	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:123200045G>T	ENST00000371160.1	+	22	2407	c.2117G>T	c.(2116-2118)tGg>tTg	p.W706L	STAG2_ENST00000218089.9_Missense_Mutation_p.W706L|STAG2_ENST00000371157.3_Missense_Mutation_p.W706L|STAG2_ENST00000371144.3_Missense_Mutation_p.W706L|STAG2_ENST00000371145.3_Missense_Mutation_p.W706L|STAG2_ENST00000354548.5_Missense_Mutation_p.W637L|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	706				W -> R (in Ref. 5; CAA99732). {ECO:0000305}.	meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTTCAAAGTGGGATTTATTT	0.284																																						ENST00000371160.1																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.(2116-2118)tGg>tTg		stromal antigen 2							68.0	69.0	69.0					X																	123200045		2202	4298	6500	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123200045G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2117G>T	X.37:g.123200045G>T	ENSP00000360202:p.Trp706Leu					STAG2_ENST00000371145.3_Missense_Mutation_p.W706L|STAG2_ENST00000371144.3_Missense_Mutation_p.W706L|STAG2_ENST00000371157.3_Missense_Mutation_p.W706L|STAG2_ENST00000218089.9_Missense_Mutation_p.W706L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.W637L	p.W706L	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN			22	2407	+			706	W -> R (in Ref. 5; CAA99732).				B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2117G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820481	0.71028	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.38	5.38	0.77491	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.76433	2.335	0.80722	D	1	D;D	0.67145	0.99;0.996	P;D	0.68039	0.897;0.955	T	0.53180	-0.8475	10	0.32370	T	0.25	-21.7395	18.2804	0.90096	0.0:0.0:1.0:0.0	.	706;706	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	L	706;637;706;706;706;706	ENSP00000218089:W706L;ENSP00000346555:W637L;ENSP00000360202:W706L;ENSP00000360199:W706L;ENSP00000360187:W706L;ENSP00000360186:W706L	ENSP00000218089:W706L	W	+	2	0	STAG2	123027726	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.869000	0.99810	2.255000	0.74692	0.600000	0.82982	TGG		0.284	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		4	53	4	53	---	---	---	---
PDZD4	57595	broad.mit.edu	37	X	153073955	153073955	+	Silent	SNP	G	G	A			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:153073955G>A	ENST00000164640.4	-	2	347	c.156C>T	c.(154-156)cgC>cgT	p.R52R	PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	52						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGGGGGCTGCGTCTCAGCA	0.642																																						ENST00000164640.4																			0				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23						c.(154-156)cgC>cgT		PDZ domain containing 4							39.0	32.0	34.0					X																	153073955		2201	4298	6499	SO:0001819	synonymous_variant	57595					cell cortex		g.chrX:153073955G>A	AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.156C>T	X.37:g.153073955G>A						PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron	p.R52R	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN			2	347	-	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		52					B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	ENST00000164640.4	37	c.156C>T	CCDS14732.1																																																																																				0.642	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061013.3	NM_032512		5	7	5	7	---	---	---	---
MECP2	4204	broad.mit.edu	37	X	153296742	153296742	+	Silent	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:153296742G>T	ENST00000303391.6	-	4	786	c.537C>A	c.(535-537)ccC>ccA	p.P179P	MECP2_ENST00000453960.2_Silent_p.P191P|MECP2_ENST00000460227.1_5'Flank|MECP2_ENST00000407218.1_Intron	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	179					adult locomotory behavior (GO:0008344)|behavioral fear response (GO:0001662)|cardiolipin metabolic process (GO:0032048)|catecholamine secretion (GO:0050432)|cerebellum development (GO:0021549)|chromatin silencing (GO:0006342)|dendrite development (GO:0016358)|glucocorticoid metabolic process (GO:0008211)|glutamine metabolic process (GO:0006541)|histone acetylation (GO:0016573)|histone methylation (GO:0016571)|inositol metabolic process (GO:0006020)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone methylation (GO:0031061)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron maturation (GO:0042551)|pathogenesis (GO:0009405)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|proprioception (GO:0019230)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|startle response (GO:0001964)|synapse assembly (GO:0007416)|transcription, DNA-templated (GO:0006351)|ventricular system development (GO:0021591)|visual learning (GO:0008542)	cytosol (GO:0005829)|extracellular space (GO:0005615)|heterochromatin (GO:0000792)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|siRNA binding (GO:0035197)|transcription corepressor activity (GO:0003714)			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGCTTTGGGAGATTTGG	0.612																																						ENST00000303391.6																			0				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23						c.(535-537)ccC>ccA		methyl CpG binding protein 2 (Rett syndrome)							67.0	69.0	68.0					X																	153296742		2203	4300	6503	SO:0001819	synonymous_variant	4204				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity	g.chrX:153296742G>T	AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057			6990	protein-coding gene	gene with protein product		300005	"""mental retardation, X-linked 16"", ""mental retardation, X-linked 79"", ""Rett syndrome"", ""methyl CpG binding protein 2 (Rett syndrome)"""	RTT, MRX16, MRX79		1606614, 10508514	Standard	NM_004992		Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.537C>A	X.37:g.153296742G>T						MECP2_ENST00000407218.1_Intron|MECP2_ENST00000453960.2_Silent_p.P191P	p.P179P	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN			4	786	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		179					O15233|Q6QHH9|Q7Z384	Silent	SNP	ENST00000303391.6	37	c.537C>A	CCDS14741.1																																																																																				0.612	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	NM_004992		5	77	5	77	---	---	---	---
F8	2157	broad.mit.edu	37	X	154158637	154158637	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:154158637G>T	ENST00000360256.4	-	14	3628	c.3428C>A	c.(3427-3429)cCc>cAc	p.P1143H		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1143	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTTTGGACTGGGGCCTTGCCC	0.413																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(3427-3429)cCc>cAc		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						65.0	68.0	67.0					X																	154158637		2202	4297	6499	SO:0001583	missense	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158637G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3428C>A	X.37:g.154158637G>T	ENSP00000353393:p.Pro1143His						p.P1143H	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3628	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1143			B.		Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	c.3428C>A	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	0.773	-0.765113	0.02996	.	.	ENSG00000185010	ENST00000360256	D	0.99369	-5.78	5.47	2.6	0.31112	.	0.918041	0.09319	N	0.818481	D	0.97654	0.9231	L	0.59436	1.845	0.09310	N	1	B	0.18741	0.03	B	0.12156	0.007	D	0.94638	0.7828	10	0.41790	T	0.15	-0.1526	4.9412	0.13967	0.189:0.0:0.6449:0.166	.	1143	P00451	FA8_HUMAN	H	1143	ENSP00000353393:P1143H	ENSP00000353393:P1143H	P	-	2	0	F8	153811831	0.005000	0.15991	0.000000	0.03702	0.088000	0.18126	1.038000	0.30254	0.461000	0.27071	0.597000	0.82753	CCC		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			5	66	5	66	---	---	---	---
