#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
PRAMEF11	440560	broad.mit.edu	37	1	12887475	12887475	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:12887475G>T	ENST00000535591.1	-	3	577	c.382C>A	c.(382-384)Ctt>Att	p.L128I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	128					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACCCATAGAAGGAGGCAGGTG	0.468																																						uc001auk.2																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(382-384)Ctt>Att		Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.																																				SO:0001583	missense	440560							g.chr1:12887475G>T	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.382C>A	1.37:g.12887475G>T	ENSP00000439551:p.Leu128Ile						p.L128I	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			2	578	-			128						Missense_Mutation	SNP	ENST00000535591.1	37	c.382C>A	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	3.619	-0.077872	0.07184	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.05649	3.41;3.41	1.48	-2.96	0.05547	.	1.165010	0.06325	N	0.705157	T	0.07279	0.0184	L	0.56280	1.765	0.09310	N	1	P	0.46952	0.887	B	0.43990	0.438	T	0.10520	-1.0626	10	0.34782	T	0.22	.	2.4408	0.04494	0.2952:0.0:0.3543:0.3505	.	128	O60813	PRA11_HUMAN	I	128;169;128	ENSP00000439551:L128I;ENSP00000391839:L128I	ENSP00000328783:L169I	L	-	1	0	PRAMEF11	12810062	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.880000	0.00715	-1.610000	0.01583	-0.498000	0.04607	CTT		0.468	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341	
B4GALT2	8704	broad.mit.edu	37	1	44446914	44446914	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:44446914G>A	ENST00000356836.6	+	2	872	c.82G>A	c.(82-84)Gtc>Atc	p.V28I	B4GALT2_ENST00000309519.7_Missense_Mutation_p.V57I|B4GALT2_ENST00000372324.1_Missense_Mutation_p.V28I|B4GALT2_ENST00000434555.2_5'UTR	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	28					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCTCGTGGCCGTCATCCTCTA	0.662																																						uc010okl.2																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(169-171)Gtc>Atc		Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	N-Acetyl-D-glucosamine(DB00141)						100.0	82.0	88.0					1																	44446914		2203	4300	6503	SO:0001583	missense	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44446914G>A	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.82G>A	1.37:g.44446914G>A	ENSP00000349293:p.Val28Ile					B4GALT2_uc001clg.3_Missense_Mutation_p.V28I|B4GALT2_uc001clh.3_5'UTR|B4GALT2_uc001cli.3_Missense_Mutation_p.V28I	p.V57I	NM_030587	NP_085076	O60909	B4GT2_HUMAN			1	245	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	28					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	Missense_Mutation	SNP	ENST00000356836.6	37	c.169G>A	CCDS506.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986218	0.53934	.	.	ENSG00000117411	ENST00000372324;ENST00000356836;ENST00000309519	T;T;T	0.44083	0.96;0.96;0.93	4.68	3.77	0.43336	.	0.087086	0.46145	D	0.000301	T	0.19127	0.0459	N	0.14661	0.345	0.35984	D	0.836249	B;P	0.34587	0.023;0.458	B;B	0.25614	0.003;0.062	T	0.17107	-1.0380	10	0.25751	T	0.34	-28.7731	5.9527	0.19255	0.3502:0.0:0.6498:0.0	.	57;28	B4DE14;O60909	.;B4GT2_HUMAN	I	28;28;57	ENSP00000361399:V28I;ENSP00000349293:V28I;ENSP00000310696:V57I	ENSP00000310696:V57I	V	+	1	0	B4GALT2	44219501	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.405000	0.59741	0.954000	0.37851	0.655000	0.94253	GTC		0.662	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780	
PPM1J	333926	broad.mit.edu	37	1	113255057	113255057	+	Missense_Mutation	SNP	C	C	T	rs201845248		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:113255057C>T	ENST00000309276.6	-	4	927	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RP11-426L16.10_ENST00000606505.1_5'Flank|RP11-426L16.10_ENST00000471038.2_5'Flank|PPM1J_ENST00000464951.1_Missense_Mutation_p.R45Q|PPM1J_ENST00000359994.4_Missense_Mutation_p.R45Q	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	251	PP2C-like.				protein dephosphorylation (GO:0006470)		protein serine/threonine phosphatase activity (GO:0004722)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCACGCCGCTCCCGGGC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16164	0.0		0.0	False		,,,				2504	0.0					uc001ect.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14						c.(751-753)cGg>cAg		Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.							52.0	45.0	47.0					1																	113255057		2203	4300	6503	SO:0001583	missense	333926							g.chr1:113255057C>T	AK093270	CCDS855.2	1p13.1	2012-04-17	2010-03-05		ENSG00000155367	ENSG00000155367	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	20785	protein-coding gene	gene with protein product	"""protein phosphatase 2C zeta"""	609957	"""protein phosphatase 1J (PP2C domain containing)"""			12633878	Standard	NM_005167		Approved	FLJ35951, MGC19531, DKFZp434P1514, PP2Czeta, PPP2CZ	uc001ect.1	Q5JR12	OTTHUMG00000012019	ENST00000309276.6:c.752G>A	1.37:g.113255057C>T	ENSP00000308926:p.Arg251Gln					PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Missense_Mutation_p.R45Q	p.R251Q	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	779	-	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)	251			PP2C-like.		B3KSB7|Q6DKJ7|Q96EZ7|Q9UF84	Missense_Mutation	SNP	ENST00000309276.6	37	c.752G>A	CCDS855.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.29	2.790115	0.50102	.	.	ENSG00000155367	ENST00000309276;ENST00000359994	T;T	0.17854	2.25;2.25	5.61	2.27	0.28462	Protein phosphatase 2C-like (5);	0.516121	0.21768	N	0.069402	T	0.04588	0.0125	L	0.31157	0.91	0.31512	N	0.663464	B;B	0.32365	0.141;0.367	B;B	0.26094	0.013;0.066	T	0.24368	-1.0162	10	0.51188	T	0.08	-0.7235	11.7535	0.51862	0.0:0.7693:0.0:0.2307	.	251;45	Q5JR12;Q5JR12-2	PPM1J_HUMAN;.	Q	251;45	ENSP00000308926:R251Q;ENSP00000353088:R45Q	ENSP00000308926:R251Q	R	-	2	0	PPM1J	113056580	0.981000	0.34729	0.914000	0.36105	0.932000	0.56968	2.189000	0.42621	0.728000	0.32382	0.462000	0.41574	CGG		0.617	PPM1J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033251.1	NM_005167	
PTEN	5728	broad.mit.edu	37	10	89692768	89692768	+	Splice_Site	SNP	A	A	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr10:89692768A>C	ENST00000371953.3	+	5	1610		c.e5-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTACCACAGTTGCACAAT	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(12)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.e5-2		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							98.0	90.0	93.0					10																	89692768		2203	4300	6503	SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692768A>C	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.254-1A>C	10.37:g.89692768A>C		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Splice_Site	p.V85_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1286	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	85			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.254_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	19.56	3.851020	0.71719	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8406	0.70220	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89682748	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.914000	0.92735	1.880000	0.54463	0.533000	0.62120	.		0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron
FAM181B	220382	broad.mit.edu	37	11	82443599	82443599	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:82443599C>T	ENST00000329203.3	-	1	1307	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	391										large_intestine(1)|lung(2)|prostate(1)	4						AATCGTAGGACACCTGATGGG	0.706																																						uc001ozp.3																			0				large_intestine(1)|lung(2)|prostate(1)	4						c.(1171-1173)gtG>gtA		Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.							7.0	9.0	8.0					11																	82443599		2055	4152	6207	SO:0001819	synonymous_variant	220382							g.chr11:82443599C>T	AK095054, BC039262	CCDS31648.1	11q14.1	2011-11-30			ENSG00000182103	ENSG00000182103			28512	protein-coding gene	gene with protein product						12477932	Standard	NM_175885		Approved	LOC220382, MGC33846	uc001ozp.3	A6NEQ2	OTTHUMG00000166869	ENST00000329203.3:c.1173G>A	11.37:g.82443599C>T							p.V391V	NM_175885	NP_787081	A6NEQ2	F181B_HUMAN			0	1308	-			391					B2RWP1	Silent	SNP	ENST00000329203.3	37	c.1173G>A	CCDS31648.1																																																																																				0.706	FAM181B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391626.1	NM_175885	
NOX4	50507	broad.mit.edu	37	11	89073229	89073229	+	Splice_Site	SNP	A	A	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:89073229A>T	ENST00000263317.4	-	15	1685		c.e15+1		NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000535633.1_Splice_Site			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCCTAATGTTACCTTGTTATG	0.318																																						uc001pct.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.e15+1		Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.							91.0	92.0	91.0					11																	89073229		2201	4298	6499	SO:0001630	splice_region_variant	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89073229A>T	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1446+1T>A	11.37:g.89073229A>T						NOX4_uc009yvr.3_Splice_Site_p.K457_splice|NOX4_uc001pcu.3_Splice_Site_p.K408_splice|NOX4_uc001pcw.3_Splice_Site_p.K175_splice|NOX4_uc001pcx.3_Splice_Site_p.K135_splice|NOX4_uc001pcv.3_Splice_Site_p.K442_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Splice_Site_p.K246_splice|NOX4_uc010rtv.2_Splice_Site_p.K418_splice|NOX4_uc009yvq.3_Splice_Site_p.K458_splice	p.K482_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN			15	1685	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	482			Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Splice_Site	SNP	ENST00000263317.4	37	c.1446_splice	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324727	0.60634	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4216	0.67187	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOX4	88712877	1.000000	0.71417	0.996000	0.52242	0.627000	0.37826	8.609000	0.90898	1.957000	0.56846	0.377000	0.23210	.		0.318	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	Intron
ANGPTL5	253935	broad.mit.edu	37	11	101762058	101762058	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:101762058T>A	ENST00000334289.3	-	9	1714	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	373	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTGAAACAGATTTAATCTTGA	0.303																																						uc001pgl.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29						c.(1117-1119)aaA>aaT		Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.							80.0	85.0	83.0					11																	101762058		2203	4299	6502	SO:0001583	missense	253935				signal transduction	extracellular space	receptor binding	g.chr11:101762058T>A	BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.1119A>T	11.37:g.101762058T>A	ENSP00000335255:p.Lys373Asn						p.K373N	NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0328)	8	1715	-		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)	373			Fibrinogen C-terminal.		A8K658|Q86VR9	Missense_Mutation	SNP	ENST00000334289.3	37	c.1119A>T	CCDS8312.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939139	0.73557	.	.	ENSG00000187151	ENST00000334289	D	0.83837	-1.77	5.04	3.89	0.44902	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.089967	0.85682	N	0.000000	D	0.93625	0.7964	H	0.97516	4.02	0.53688	D	0.999974	D	0.89917	1.0	D	0.85130	0.997	D	0.93836	0.7132	10	0.87932	D	0	.	11.0397	0.47823	0.1394:0.0:0.0:0.8606	.	373	Q86XS5	ANGL5_HUMAN	N	373	ENSP00000335255:K373N	ENSP00000335255:K373N	K	-	3	2	ANGPTL5	101267268	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.894000	0.39768	0.737000	0.32582	0.528000	0.53228	AAA		0.303	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394138.1	NM_178127	
MMP1	4312	broad.mit.edu	37	11	102663372	102663372	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:102663372C>T	ENST00000315274.6	-	7	1064	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	333					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	TCGGCAAATTCGTAAGCAGCT	0.403																																						uc001phi.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(997-999)Gaa>Aaa		Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.							126.0	129.0	128.0					11																	102663372		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102663372C>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.997G>A	11.37:g.102663372C>T	ENSP00000322788:p.Glu333Lys					LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E267K	p.E333K	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	6	1140	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	333			Hemopexin-like 2.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.997G>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	c	27.0	4.786879	0.90367	.	.	ENSG00000196611	ENST00000315274	T	0.03004	4.08	6.16	6.16	0.99307	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000001	T	0.31199	0.0789	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.33292	-0.9874	10	0.87932	D	0	.	19.4236	0.94732	0.0:1.0:0.0:0.0	.	333	P03956	MMP1_HUMAN	K	333	ENSP00000322788:E333K	ENSP00000322788:E333K	E	-	1	0	MMP1	102168582	1.000000	0.71417	0.998000	0.56505	0.591000	0.36615	5.116000	0.64661	2.937000	0.99478	0.650000	0.86243	GAA		0.403	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421	
IPO8	10526	broad.mit.edu	37	12	30809654	30809654	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:30809654G>A	ENST00000256079.4	-	17	2250	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	IPO8_ENST00000544829.1_Missense_Mutation_p.R433W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	638					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATGATCCGTAGACAGATA	0.234																																						uc001rjd.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(1912-1914)Cgg>Tgg		Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.							26.0	27.0	26.0					12																	30809654		2189	4270	6459	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30809654G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1912C>T	12.37:g.30809654G>A	ENSP00000256079:p.Arg638Trp					IPO8_uc010sjt.2_Missense_Mutation_p.R433W|IPO8_uc001rje.1_Missense_Mutation_p.R127W	p.R638W	NM_006390	NP_006381	O15397	IPO8_HUMAN			16	2260	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		638					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1912C>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160389	0.57368	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.67698	-0.28;-0.28	4.7	4.7	0.59300	Armadillo-like helical (1);Armadillo-type fold (1);	0.127634	0.53938	D	0.000056	T	0.69160	0.3080	N	0.24115	0.695	0.49687	D	0.999818	D;D;D	0.69078	0.997;0.996;0.995	P;P;P	0.58970	0.849;0.761;0.582	T	0.75016	-0.3466	10	0.87932	D	0	-7.7769	17.9605	0.89084	0.0:0.0:1.0:0.0	.	433;114;638	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	W	638;114;433	ENSP00000256079:R638W;ENSP00000444520:R433W	ENSP00000256079:R638W	R	-	1	2	IPO8	30700921	1.000000	0.71417	0.923000	0.36655	0.010000	0.07245	6.080000	0.71299	2.306000	0.77630	0.655000	0.94253	CGG		0.234	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
ZBTB39	9880	broad.mit.edu	37	12	57396685	57396685	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:57396685G>T	ENST00000300101.2	-	2	2102	c.2017C>A	c.(2017-2019)Ctt>Att	p.L673I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	673					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)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGAGGTTAAGGGTGGAACTG	0.542																																						uc001sml.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(2017-2019)Ctt>Att		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							146.0	116.0	126.0					12																	57396685		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57396685G>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.2017C>A	12.37:g.57396685G>T	ENSP00000300101:p.Leu673Ile					ZBTB39_uc021qzg.1_Missense_Mutation_p.L673I	p.L673I	NM_014830	NP_055645	O15060	ZBT39_HUMAN			1	2170	-			673					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.2017C>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044825	0.55110	.	.	ENSG00000166860	ENST00000300101	T	0.15603	2.41	5.44	5.44	0.79542	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.082660	0.49916	D	0.000123	T	0.22975	0.0555	L	0.41632	1.29	0.50313	D	0.999869	D	0.58620	0.983	P	0.51016	0.656	T	0.01169	-1.1430	10	0.20519	T	0.43	-13.099	16.7608	0.85511	0.0:0.0:1.0:0.0	.	673	O15060	ZBT39_HUMAN	I	673	ENSP00000300101:L673I	ENSP00000300101:L673I	L	-	1	0	ZBTB39	55682952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.553000	0.53713	2.549000	0.85964	0.655000	0.94253	CTT		0.542	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830	
STARD13	90627	broad.mit.edu	37	13	33685935	33685935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:33685935C>A	ENST00000336934.5	-	10	2703	c.2587G>T	c.(2587-2589)Gaa>Taa	p.E863*	STARD13_ENST00000255486.4_Nonsense_Mutation_p.E855*|STARD13_ENST00000399365.3_Nonsense_Mutation_p.E745*	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	863	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGTCGCATTCCATGATCATG	0.478																																						uc001uuw.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40						c.(2587-2589)Gaa>Taa		Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.							157.0	129.0	139.0					13																	33685935		2203	4300	6503	SO:0001587	stop_gained	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33685935C>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2587G>T	13.37:g.33685935C>A	ENSP00000338785:p.Glu863*					STARD13_uc001uuu.3_Nonsense_Mutation_p.E855*|STARD13_uc001uuv.3_Nonsense_Mutation_p.E745*|STARD13_uc001uux.3_Nonsense_Mutation_p.E828*	p.E863*	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	9	2713	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	863			Rho-GAP.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Nonsense_Mutation	SNP	ENST00000336934.5	37	c.2587G>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	41	8.738483	0.98935	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.0051	0.97433	0.0:1.0:0.0:0.0	.	.	.	.	X	745;855;863	.	ENSP00000255486:E855X	E	-	1	0	STARD13	32583935	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.961000	0.70356	2.799000	0.96334	0.650000	0.86243	GAA		0.478	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466	
SLC15A1	6564	broad.mit.edu	37	13	99337143	99337143	+	Silent	SNP	C	C	T	rs143994270	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:99337143C>T	ENST00000376503.5	-	23	2017	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	654					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CCAGAAGCAACGCGGCAAATA	0.418													C|||	5	0.000998403	0.0038	0.0	5008	,	,		19713	0.0		0.0	False		,,,				2504	0.0					uc001vno.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1960-1962)gcG>gcA		Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	C		2,4404	4.2+/-10.8	0,2,2201	62.0	56.0	58.0		1962	-10.6	0.0	13	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	SLC15A1	NM_005073.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		654/709	99337143	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6564				digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	g.chr13:99337143C>T	U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.1962G>A	13.37:g.99337143C>T							p.A654A	NM_005073	NP_005064	P46059	S15A1_HUMAN			22	2039	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		654					Q5VW82	Silent	SNP	ENST00000376503.5	37	c.1962G>A	CCDS9489.1																																																																																				0.418	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045560.3	NM_005073	
ASB2	51676	broad.mit.edu	37	14	94419793	94419793	+	Missense_Mutation	SNP	G	G	A	rs113529772		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:94419793G>A	ENST00000315988.4	-	3	883	c.395C>T	c.(394-396)aCg>aTg	p.T132M	ASB2_ENST00000555019.1_Missense_Mutation_p.T180M|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	132					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)	p.T132R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCCTGCACGTTGCCAAGTA	0.587																																						uc001ycd.3																			1	Substitution - Missense(1)	p.T132R(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(538-540)aCg>aTg		Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.							71.0	65.0	67.0					14																	94419793		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94419793G>A	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.395C>T	14.37:g.94419793G>A	ENSP00000320675:p.Thr132Met					ASB2_uc001ycc.2_Missense_Mutation_p.T132M|ASB2_uc001yce.1_Missense_Mutation_p.T78M	p.T180M	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	4	909	-		all_cancers(154;0.13)	132					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.539C>T	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139727	0.56936	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507;ENST00000555287	T;T;T;T	0.71579	-0.09;-0.09;-0.09;-0.58	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.118220	0.64402	D	0.000007	T	0.79399	0.4439	L	0.39020	1.185	0.47374	D	0.999404	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.73380	0.931;0.98;0.931	T	0.80665	-0.1281	10	0.72032	D	0.01	-10.8437	19.6793	0.95956	0.0:0.0:1.0:0.0	.	148;180;132	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	M	180;148;132;78;78;98	ENSP00000451575:T180M;ENSP00000320675:T132M;ENSP00000450940:T78M;ENSP00000451654:T98M	ENSP00000320675:T132M	T	-	2	0	ASB2	93489546	1.000000	0.71417	0.145000	0.22337	0.100000	0.18952	6.384000	0.73177	2.713000	0.92767	0.655000	0.94253	ACG		0.587	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1		
JAG2	3714	broad.mit.edu	37	14	105622189	105622189	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:105622189C>T	ENST00000331782.3	-	4	1016	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	JAG2_ENST00000347004.2_Missense_Mutation_p.A205T|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	205	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGCAAGTGGCGCTGTAGTAG	0.627																																						uc001yqg.3																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22						c.(613-615)Gcc>Acc		Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.							84.0	58.0	67.0					14																	105622189		2198	4300	6498	SO:0001583	missense	3714				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	g.chr14:105622189C>T	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.613G>A	14.37:g.105622189C>T	ENSP00000328169:p.Ala205Thr					JAG2_uc001yqh.3_Missense_Mutation_p.A205T	p.A205T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)	3	1017	-		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	205			DSL.		Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	ENST00000331782.3	37	c.613G>A	CCDS9998.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221712	0.39300	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;D	0.95885	-0.21;-3.84	4.18	0.614	0.17603	Delta/Serrate/lag-2 (DSL) protein (3);	0.674289	0.14518	U	0.314668	D	0.86368	0.5916	N	0.17800	0.525	0.09310	N	0.999998	B;B	0.12630	0.005;0.006	B;B	0.14023	0.003;0.01	T	0.72168	-0.4372	10	0.13108	T	0.6	.	1.6306	0.02732	0.16:0.4427:0.1576:0.2397	.	205;205	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	T	205	ENSP00000328169:A205T;ENSP00000328566:A205T	ENSP00000328169:A205T	A	-	1	0	JAG2	104693234	0.000000	0.05858	0.994000	0.49952	0.879000	0.50718	-2.482000	0.00981	0.220000	0.20860	-0.244000	0.11960	GCC		0.627	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276506.2		
IGHD6-19	28486	broad.mit.edu	37	14	106357638	106357638	+	RNA	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:106357638G>A	ENST00000390574.1	-	0	0				IGHD5-18_ENST00000390575.1_RNA|IGHD4-17_ENST00000431870.1_RNA|IGHD1-20_ENST00000450276.1_RNA|AL122127.25_ENST00000418566.1_lincRNA					immunoglobulin heavy diversity 6-19																		CCCTTGCTGGGGTCAGTGCCC	0.592																																						uc021ser.1																			0											c.e3793+1		Parts of antibodies, mostly variable regions.							238.0	207.0	216.0					14																	106357638		688	1571	2259			8755							g.chr14:106357638G>A	X97051		14q32.33	2012-02-08			ENSG00000211914	ENSG00000211914		"""Immunoglobulins / IGH locus"""	5515	other	immunoglobulin gene						3138112	Standard	NG_001019		Approved	IGHD619			OTTHUMG00000152431		14.37:g.106357638G>A						KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron								3793		-									Splice_Site	SNP	ENST00000390574.1	37	c.57336_splice																																																																																					0.592	IGHD6-19-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_D_gene	IG_D_gene	OTTHUMT00000326209.1	NG_001019	
AQR	9716	broad.mit.edu	37	15	35193048	35193048	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:35193048A>G	ENST00000156471.5	-	20	2243	c.2018T>C	c.(2017-2019)aTt>aCt	p.I673T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	673					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAGGTTCCGAATAGTCTCCAG	0.448																																						uc001ziv.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2017-2019)aTt>aCt		Homo sapiens aquarius homolog (mouse) (AQR), mRNA.							98.0	90.0	93.0					15																	35193048		1993	4175	6168	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35193048A>G	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2018T>C	15.37:g.35193048A>G	ENSP00000156471:p.Ile673Thr						p.I673T	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	19	2199	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	673					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.2018T>C	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178036	0.78564	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.96522	-4.04	5.25	5.25	0.73442	.	0.063541	0.85682	D	0.000000	D	0.98488	0.9496	M	0.92459	3.31	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	10	0.62326	D	0.03	-27.1136	15.619	0.76790	1.0:0.0:0.0:0.0	.	673	O60306	AQR_HUMAN	T	673	ENSP00000156471:I673T	ENSP00000156471:I673T	I	-	2	0	AQR	32980340	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	8.709000	0.91379	2.333000	0.79357	0.482000	0.46254	ATT		0.448	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
THBS1	7057	broad.mit.edu	37	15	39879564	39879564	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:39879564C>T	ENST00000260356.5	+	8	1302	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	379	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ACTCTGCGGACGATGGCTGGT	0.567																																						uc001zkh.3																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1135-1137)gaC>gaT		Homo sapiens thrombospondin 1 (THBS1), mRNA.	Becaplermin(DB00102)						49.0	44.0	46.0					15																	39879564		2200	4297	6497	SO:0001819	synonymous_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39879564C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1137C>T	15.37:g.39879564C>T						THBS1_uc010bbi.3_5'Flank	p.D379D	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	7	1316	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	379			TSP type-1 1.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	ENST00000260356.5	37	c.1137C>T	CCDS32194.1																																																																																				0.567	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
SPTBN5	51332	broad.mit.edu	37	15	42164092	42164092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:42164092delA	ENST00000320955.6	-	28	5416	c.5189delT	c.(5188-5190)ctgfs	p.L1730fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1730					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATGCAGCCTCAGGGTCCCCTC	0.677																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(5083-5085)ctgfs		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							22.0	26.0	25.0					15																	42164092		1926	4124	6050	SO:0001589	frameshift_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42164092delA	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.5189delT	15.37:g.42164092delA	ENSP00000317790:p.Leu1730fs						p.L1695fs	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	27	5417	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1730						Frame_Shift_Del	DEL	ENST00000320955.6	37	c.5084delT																																																																																					0.677	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
ITFG3	83986	broad.mit.edu	37	16	315018	315018	+	Silent	SNP	G	G	A	rs200499463		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:315018G>A	ENST00000399932.3	+	13	2107	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A	ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301678.3_Silent_p.A552A|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000301679.2_Intron	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	552						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGAGTGAGGCGTAGAGGCACG	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		16935	0.001		0.0	False		,,,				2504	0.0					uc002cgf.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1654-1656)gcG>gcA		Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.		G		3,4313		0,3,2155	33.0	40.0	38.0		1656	-9.5	0.0	16		38	0,8528		0,0,4264	no	coding-synonymous	ITFG3	NM_032039.2		0,3,6419	AA,AG,GG		0.0,0.0695,0.0234		552/553	315018	3,12841	2158	4264	6422	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:315018G>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1656G>A	16.37:g.315018G>A						LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Silent_p.A552A	p.A552A	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN			12	1851	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	552					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.1656G>A	CCDS10402.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	4.997	0.185127	0.09495	6.95E-4	0.0	ENSG00000167930	ENST00000424016	.	.	.	4.73	-9.46	0.00597	.	.	.	.	.	T	0.22475	0.0542	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	T	0.14643	-1.0465	4	.	.	.	0.0049	5.8865	0.18884	0.3008:0.4409:0.1895:0.0687	.	.	.	.	H	192	.	.	R	+	2	0	ITFG3	255019	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.354000	0.00247	-2.559000	0.00474	-1.036000	0.02392	CGT		0.647	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039	
PTX4	390667	broad.mit.edu	37	16	1537647	1537647	+	Missense_Mutation	SNP	G	G	A	rs201361995	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:1537647G>A	ENST00000447419.2	-	2	491	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	PTX4_ENST00000293922.1_Missense_Mutation_p.R151C|PTX4_ENST00000440447.2_Intron			Q96A99	PTX4_HUMAN	pentraxin 4, long	156						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCCTCCAGGCGTGCCAGTGAG	0.741													g|||	2	0.000399361	0.0	0.0014	5008	,	,		14738	0.0		0.001	False		,,,				2504	0.0					uc010uvf.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						c.(451-453)Cgc>Tgc		Homo sapiens pentraxin 4, long (PTX4), mRNA.		A	CYS/ARG	0,4380		0,0,2190	19.0	24.0	23.0		451	-5.2	0.0	16		23	2,8544		0,2,4271	yes	missense	PTX4	NM_001013658.1	180	0,2,6461	AA,AG,GG		0.0234,0.0,0.0155	probably-damaging	151/474	1537647	2,12924	2190	4273	6463	SO:0001583	missense	390667					extracellular region	metal ion binding	g.chr16:1537647G>A		CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.466C>T	16.37:g.1537647G>A	ENSP00000445277:p.Arg156Cys						p.R151C	NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN			1	451	-			156						Missense_Mutation	SNP	ENST00000447419.2	37	c.451C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	16.15	3.040294	0.55003	0.0	2.34E-4	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05382	3.6;3.45	5.67	-5.21	0.02815	.	1.894640	0.02252	N	0.066745	T	0.07773	0.0195	L	0.48642	1.525	0.09310	N	1	D	0.60160	0.987	P	0.46049	0.502	T	0.42531	-0.9446	10	0.46703	T	0.11	.	5.3694	0.16131	0.0687:0.4386:0.214:0.2787	.	151	Q96A99-2	.	C	156;151	ENSP00000445277:R156C;ENSP00000293922:R151C	ENSP00000293922:R151C	R	-	1	0	PTX4	1477648	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.231000	0.09069	-0.498000	0.06632	-0.119000	0.15052	CGC		0.741	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432526.1	NM_001013658	
CIITA	4261	broad.mit.edu	37	16	10997663	10997663	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:10997663G>A	ENST00000324288.8	+	9	981	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.R234Q	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	283					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTCCAGACCGGCCAGGCTCC	0.627			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002daj.4				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(850-852)cGg>cAg		Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.							95.0	85.0	88.0					16																	10997663		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10997663G>A	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.848G>A	16.37:g.10997663G>A	ENSP00000316328:p.Arg283Gln					CIITA_uc002dai.4_Missense_Mutation_p.R283Q|CIITA_uc002dak.4_Missense_Mutation_p.R234Q|CIITA_uc002dag.2_Missense_Mutation_p.R283Q|CIITA_uc002dah.2_Missense_Mutation_p.R235Q|CIITA_uc010bup.1_Missense_Mutation_p.R283Q	p.R284Q	NM_000246	NP_000237	P33076	C2TA_HUMAN			8	984	+			283					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.851G>A	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245904	0.39697	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.75821	-0.97;1.16	5.47	4.51	0.55191	.	0.121584	0.36034	N	0.002824	D	0.83839	0.5341	M	0.74258	2.255	0.23168	N	0.998184	D;P;D;D;D;D	0.89917	1.0;0.89;1.0;1.0;1.0;1.0	D;B;D;D;D;D	0.87578	0.998;0.119;0.973;0.973;0.988;0.996	T	0.75416	-0.3325	10	0.59425	D	0.04	.	10.0086	0.41972	0.0932:0.0:0.9068:0.0	.	283;234;283;283;235;283	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	Q	283;234;235;283	ENSP00000316328:R283Q;ENSP00000371257:R234Q	ENSP00000316328:R283Q	R	+	2	0	CIITA	10905164	0.517000	0.26226	0.555000	0.28281	0.141000	0.21300	2.690000	0.47001	1.307000	0.44944	0.655000	0.94253	CGG		0.627	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	
ERN2	10595	broad.mit.edu	37	16	23718095	23718095	+	Missense_Mutation	SNP	C	C	T	rs201055598		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:23718095C>T	ENST00000457008.2	-	6	505	c.467G>A	c.(466-468)cGc>cAc	p.R156H	ERN2_ENST00000256797.4_Missense_Mutation_p.R204H					endoplasmic reticulum to nucleus signaling 2											large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGA	0.607																																						uc002dma.4																			0				large_intestine(2)|lung(2)|ovary(2)	6						c.(610-612)cGc>cAc		Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.							54.0	55.0	55.0					16																	23718095		2196	4300	6496	SO:0001583	missense	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718095C>T	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.467G>A	16.37:g.23718095C>T	ENSP00000413812:p.Arg156His					ERN2_uc010bxp.3_Missense_Mutation_p.R204H|ERN2_uc010bxq.1_Missense_Mutation_p.R12H	p.R204H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	780	-			156						Missense_Mutation	SNP	ENST00000457008.2	37	c.611G>A		.	.	.	.	.	.	.	.	.	.	C	7.097	0.573383	0.13623	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	T;T	0.57752	0.38;0.38	5.6	-0.0786	0.13714	Quinonprotein alcohol dehydrogenase-like (2);	0.273852	0.36066	N	0.002817	T	0.29355	0.0731	L	0.34521	1.04	0.22947	N	0.998529	B;B;P	0.49696	0.023;0.004;0.927	B;B;B	0.39068	0.007;0.004;0.289	T	0.25293	-1.0136	10	0.45353	T	0.12	.	0.7007	0.00907	0.2369:0.3752:0.1263:0.2616	.	156;156;156	Q76MJ5;E7ETG2;A5YM65	ERN2_HUMAN;.;.	H	204;156	ENSP00000256797:R204H;ENSP00000413812:R156H	ENSP00000256797:R204H	R	-	2	0	ERN2	23625596	0.962000	0.33011	0.815000	0.32552	0.271000	0.26615	1.893000	0.39758	0.315000	0.23110	0.462000	0.41574	CGC		0.607	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		
C16orf82	162083	broad.mit.edu	37	16	27078770	27078770	+	lincRNA	DEL	G	G	-			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:27078770delG	ENST00000505035.1	+	0	743				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		GCAGACTGGAGGGAAAGAGTG	0.652																																						uc010vcm.2																			0											c.(451-453)gggfs		Homo sapiens chromosome 16 open reading frame 82 (C16orf82), mRNA.							4.0	5.0	5.0					16																	27078770		1870	3986	5856			162083							g.chr16:27078770delG	BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078770delG							p.G151fs	NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN			0	552	+			215					B9EGC2|Q8NEF0	Frame_Shift_Del	DEL	ENST00000505035.1	37	c.451delG																																																																																					0.652	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545	
PHF23	79142	broad.mit.edu	37	17	7139423	7139423	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7139423G>A	ENST00000320316.3	-	4	1049	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	PHF23_ENST00000571362.1_Silent_p.L208L|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000454255.2_Silent_p.L271L|PHF23_ENST00000576955.1_Silent_p.L145L|DVL2_ENST00000575458.1_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	275							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGTGTTGGCAGCACAGGGACT	0.587																																						uc002gfa.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(823-825)Ctg>Ttg		Homo sapiens PHD finger protein 23 (PHF23), mRNA.							74.0	84.0	80.0					17																	7139423		2024	4174	6198	SO:0001819	synonymous_variant	79142						zinc ion binding	g.chr17:7139423G>A	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.823C>T	17.37:g.7139423G>A						DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L208L|PHF23_uc010cma.3_Silent_p.L145L	p.L275L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN			3	1050	-			275					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Silent	SNP	ENST00000320316.3	37	c.823C>T	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	0.409	-0.914101	0.02415	.	.	ENSG00000040633	ENST00000043410	.	.	.	4.23	3.12	0.35913	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61811	-0.6986	5	0.62326	D	0.03	-3.6619	7.564	0.27868	0.1333:0.0:0.8667:0.0	.	.	.	.	V	154	.	ENSP00000043410:A154V	A	-	2	0	PHF23	7080147	0.001000	0.12720	0.998000	0.56505	0.493000	0.33554	0.367000	0.20382	0.825000	0.34637	0.313000	0.20887	GCT		0.587	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297	
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.R248W	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH1	4619	broad.mit.edu	37	17	10398535	10398535	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:10398535C>G	ENST00000226207.5	-	36	5363	c.5269G>C	c.(5269-5271)Gag>Cag	p.E1757Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1757					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGGCCTTCTCTTCTGCATTG	0.473																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(5269-5271)Gag>Cag		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							277.0	233.0	248.0					17																	10398535		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10398535C>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5269G>C	17.37:g.10398535C>G	ENSP00000226207:p.Glu1757Gln					AK097500_uc002gml.1_Intron	p.E1757Q	NM_005963	NP_005954	P12882	MYH1_HUMAN			35	5363	-			1757					Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5269G>C	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.844393	0.91197	.	.	ENSG00000109061	ENST00000226207	D	0.83755	-1.76	5.28	5.28	0.74379	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.94624	0.8267	H	0.97682	4.055	0.58432	D	0.999998	D	0.54207	0.965	D	0.68943	0.961	D	0.96218	0.9158	10	0.87932	D	0	.	19.2728	0.94018	0.0:1.0:0.0:0.0	.	1757	P12882	MYH1_HUMAN	Q	1757	ENSP00000226207:E1757Q	ENSP00000226207:E1757Q	E	-	1	0	MYH1	10339260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.673000	0.83973	2.618000	0.88619	0.561000	0.74099	GAG		0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
KRT14	3861	broad.mit.edu	37	17	39742796	39742796	+	Silent	SNP	A	A	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:39742796A>C	ENST00000167586.6	-	1	377	c.291T>G	c.(289-291)ggT>ggG	p.G97G		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	97	Head.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622																																						uc002hxf.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(289-291)ggT>ggG		Homo sapiens keratin 14 (KRT14), mRNA.							134.0	134.0	134.0					17																	39742796		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39742796A>C	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.291T>G	17.37:g.39742796A>C						JUP_uc010wfs.2_Intron	p.G97G	NM_000526	NP_000517	P02533	K1C14_HUMAN			0	352	-		Breast(137;0.000307)	97			Head.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.291T>G	CCDS11400.1																																																																																				0.622	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526	
SLC25A10	1468	broad.mit.edu	37	17	79687107	79687107	+	Nonstop_Mutation	SNP	A	A	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:79687107A>C	ENST00000350690.5	+	11	950	c.864A>C	c.(862-864)tgA>tgC	p.*288C	SLC25A10_ENST00000545862.1_Nonstop_Mutation_p.*245C|SLC25A10_ENST00000331531.5_Nonstop_Mutation_p.*297C|SLC25A10_ENST00000541223.1_Nonstop_Mutation_p.*443C|SLC25A10_ENST00000571730.1_Nonstop_Mutation_p.*443C	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)	p.*288C(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGCCATCCTGACCAGCCGTGG	0.607																																						uc010wut.2																			1	Nonstop extension(1)	p.*288C(1)	lung(1)	endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(1327-1329)tgA>tgC		Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	Succinic acid(DB00139)						39.0	38.0	38.0					17																	79687107		2202	4300	6502	SO:0001578	stop_lost	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79687107A>C		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.864A>C	17.37:g.79687107A>C	ENSP00000345580:p.*288Cysext*14					SLC25A10_uc002kbi.3_Nonstop_Mutation_p.*288C|SLC25A10_uc010dif.3_Nonstop_Mutation_p.*297C|SLC25A10_uc010wuu.2_Nonstop_Mutation_p.*242C	p.*443C	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		14	1461	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		0					Q542Z3|Q96BA1|Q96IP1	Nonstop_Mutation	SNP	ENST00000350690.5	37	c.1329A>C	CCDS11786.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.235774	0.58886	.	.	ENSG00000183048	ENST00000541223;ENST00000331531;ENST00000350690;ENST00000545862	.	.	.	4.35	3.25	0.37280	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9301	0.41517	0.9158:0.0:0.0842:0.0	.	.	.	.	C	443;297;288;245	.	.	X	+	3	0	SLC25A10	77297512	1.000000	0.71417	0.903000	0.35520	0.516000	0.34256	4.848000	0.62874	1.600000	0.50102	0.528000	0.53228	TGA		0.607	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1		
MIER2	54531	broad.mit.edu	37	19	313632	313632	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:313632C>T	ENST00000264819.4	-	8	677	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	223	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGTCTTCGTTCTCGTAG	0.622																																						uc002lok.1																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(667-669)Gaa>Aaa		Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.							70.0	72.0	71.0					19																	313632		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:313632C>T	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.667G>A	19.37:g.313632C>T	ENSP00000264819:p.Glu223Lys						p.E223K	NM_017550	NP_060020	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	676	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	223			ELM2.		Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.667G>A	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833402	0.50951	.	.	ENSG00000105556	ENST00000264819	T	0.31769	1.48	4.9	2.74	0.32292	ELM2 domain (2);	0.283455	0.24620	N	0.036964	T	0.31949	0.0813	L	0.60067	1.865	0.49389	D	0.999782	P	0.35959	0.53	B	0.42386	0.386	T	0.14062	-1.0486	10	0.72032	D	0.01	-6.5805	5.7788	0.18294	0.0:0.6668:0.166:0.1672	.	223	Q8N344	MIER2_HUMAN	K	223	ENSP00000264819:E223K	ENSP00000264819:E223K	E	-	1	0	MIER2	264632	0.989000	0.36119	0.383000	0.26132	0.672000	0.39443	3.008000	0.49544	1.068000	0.40764	0.306000	0.20318	GAA		0.622	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843	
TUBB4A	10382	broad.mit.edu	37	19	6495601	6495601	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:6495601G>A	ENST00000264071.2	-	4	1280	c.909C>T	c.(907-909)tgC>tgT	p.C303C	CTD-2396E7.10_ENST00000596027.1_RNA|CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.C303C			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	303					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GGCGCGGGTCGCACGCCGCCA	0.677																																						uc002mfg.1																			0											c.(907-909)tgC>tgT		Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.							60.0	58.0	59.0					19																	6495601		2202	4298	6500	SO:0001819	synonymous_variant	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495601G>A	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.909C>T	19.37:g.6495601G>A						TUBB4A_uc002mff.1_Silent_p.C231C|JA429441_uc021unq.1_5'Flank	p.C303C	NM_006087	NP_006078	P04350	TBB4_HUMAN			3	1016	-			303					B3KQP4|Q969E5	Silent	SNP	ENST00000264071.2	37	c.909C>T	CCDS12168.1																																																																																				0.677	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087	
MUC16	94025	broad.mit.edu	37	19	9089511	9089511	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:9089511G>A	ENST00000397910.4	-	1	2507	c.2304C>T	c.(2302-2304)gcC>gcT	p.A768A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	768	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)		p.A768A(2)		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						AGGAAAGAACGGCTGAGCTGG	0.483																																						uc002mkp.3																			2	Substitution - coding silent(2)	p.A768A(3)	lung(2)	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.(2302-2304)gcC>gcT		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							214.0	215.0	214.0					19																	9089511		2070	4229	6299	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089511G>A	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.2304C>T	19.37:g.9089511G>A							p.A768A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			0	2508	-			768			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.2304C>T	CCDS54212.1																																																																																				0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
DCAF15	90379	broad.mit.edu	37	19	14071180	14071180	+	Silent	SNP	G	G	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:14071180G>C	ENST00000254337.6	+	11	1629	c.1608G>C	c.(1606-1608)ctG>ctC	p.L536L		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	536					protein ubiquitination (GO:0016567)					breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TAGGCGACCTGACTGAGGTCA	0.637											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mxt.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						c.(1606-1608)ctG>ctC		Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.							111.0	98.0	103.0					19																	14071180		2203	4300	6503	SO:0001819	synonymous_variant	90379							g.chr19:14071180G>C	BC002926	CCDS32926.1	19p13.12	2009-07-17	2009-07-17	2009-07-17	ENSG00000132017	ENSG00000132017		"""DDB1 and CUL4 associated factors"""	25095	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 72"""	C19orf72			Standard	NM_138353		Approved	MGC99481	uc002mxt.3	Q66K64		ENST00000254337.6:c.1608G>C	19.37:g.14071180G>C			OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	692	DCAF15_uc002mxu.3_Non-coding_Transcript	p.L536L	NM_138353	NP_612362	Q66K64	DCA15_HUMAN			10	1614	+			536					B3KS86|Q96DW0|Q9BU31	Silent	SNP	ENST00000254337.6	37	c.1608G>C	CCDS32926.1																																																																																				0.637	DCAF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458099.1	NM_138353	
KCNK3	3777	broad.mit.edu	37	2	26950539	26950539	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:26950539C>T	ENST00000302909.3	+	2	413	c.288C>T	c.(286-288)taC>taT	p.Y96Y		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	96					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CCCCAGGCTACGGGCACGCGG	0.632																																					GBM(80;1457 1631 27100 45946)	uc002rhn.2																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(286-288)taC>taT		Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.							125.0	131.0	129.0					2																	26950539		2203	4300	6503	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950539C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.288C>T	2.37:g.26950539C>T							p.Y96Y	NM_002246	NP_002237	O14649	KCNK3_HUMAN			1	451	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		96					Q53SU2	Silent	SNP	ENST00000302909.3	37	c.288C>T	CCDS1727.1																																																																																				0.632	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246	
DDX18	8886	broad.mit.edu	37	2	118587017	118587017	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:118587017C>A	ENST00000263239.2	+	13	1973	c.1845C>A	c.(1843-1845)ttC>ttA	p.F615L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	615					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTTGGTTTCAAGGTGCCTC	0.398																																						uc002tlh.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1843-1845)ttC>ttA		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.							158.0	150.0	153.0					2																	118587017		2203	4300	6503	SO:0001583	missense	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118587017C>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1845C>A	2.37:g.118587017C>A	ENSP00000263239:p.Phe615Leu						p.F615L	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			12	1944	+			615					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	ENST00000263239.2	37	c.1845C>A	CCDS2120.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646583	0.47258	.	.	ENSG00000088205	ENST00000263239;ENST00000539346	T	0.01252	5.1	4.67	1.86	0.25419	.	0.000000	0.85682	D	0.000000	T	0.01254	0.0041	L	0.33093	0.98	0.58432	D	0.999994	B	0.18968	0.032	B	0.23275	0.045	T	0.56032	-0.8046	10	0.14656	T	0.56	-1.4589	7.6905	0.28565	0.0:0.6176:0.0:0.3824	.	615	Q9NVP1	DDX18_HUMAN	L	615;354	ENSP00000263239:F615L	ENSP00000263239:F615L	F	+	3	2	DDX18	118303487	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.764000	0.38471	0.290000	0.22444	-0.143000	0.13931	TTC		0.398	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773	
XRN2	22803	broad.mit.edu	37	20	21367621	21367621	+	Silent	SNP	C	C	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:21367621C>A	ENST00000377191.3	+	29	2859	c.2764C>A	c.(2764-2766)Cga>Aga	p.R922R	XRN2_ENST00000430571.2_Silent_p.R846R|XRN2_ENST00000539513.1_Silent_p.R868R	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	922					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TCCACCCAGACGAGATGATCG	0.502																																						uc002wsf.1																			0				endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						c.(2764-2766)Cga>Aga		Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.							94.0	86.0	89.0					20																	21367621		2203	4300	6503	SO:0001819	synonymous_variant	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21367621C>A	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2764C>A	20.37:g.21367621C>A						XRN2_uc002wsg.1_Silent_p.R846R|XRN2_uc010zsk.1_Silent_p.R868R|XRN2_uc002wsh.1_Silent_p.R60R	p.R922R	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			28	2859	+			922					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Silent	SNP	ENST00000377191.3	37	c.2764C>A	CCDS13144.1																																																																																				0.502	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
FRG1B	284802	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	-	A	rs373737774		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:29628229_29628230insA	ENST00000278882.3	+	6	611_612	c.231_232insA	c.(232-234)aaafs	p.K78fs	FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.K83fs|FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.K78fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	78										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351																																						uc010ztl.1																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(139-144)gggaaafs		Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.																																				SO:0001589	frameshift_variant	284802							g.chr20:29628229_29628230insA			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.235dupA	20.37:g.29628233_29628233dupA	ENSP00000278882:p.Lys78fs					FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_5'UTR	p.G47fs							2	173_174	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.141_142insA																																																																																					0.351	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
MMP9	4318	broad.mit.edu	37	20	44639885	44639885	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:44639885C>T	ENST00000372330.3	+	5	772	c.753C>T	c.(751-753)gaC>gaT	p.D251D	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	251	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	GTCGCTCCGACGGCTTGCCCT	0.657																																						uc002xqz.3																			0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(751-753)gaC>gaT		Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)						74.0	77.0	76.0					20																	44639885		2203	4300	6503	SO:0001819	synonymous_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44639885C>T		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.753C>T	20.37:g.44639885C>T							p.D251D	NM_004994	NP_004985	P14780	MMP9_HUMAN			4	772	+		Myeloproliferative disorder(115;0.0122)	251			Fibronectin type-II 1.		B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Silent	SNP	ENST00000372330.3	37	c.753C>T	CCDS13390.1																																																																																				0.657	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1		
ARFGEF2	10564	broad.mit.edu	37	20	47639713	47639713	+	Missense_Mutation	SNP	G	G	A	rs201449025		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:47639713G>A	ENST00000371917.4	+	35	4750	c.4750G>A	c.(4750-4752)Gcc>Acc	p.A1584T		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1584					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CATGGTTGCCGCCCAGGTAAG	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(4750-4752)Gcc>Acc		Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.							77.0	65.0	69.0					20																	47639713		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47639713G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4750G>A	20.37:g.47639713G>A	ENSP00000360985:p.Ala1584Thr					ARFGEF2_uc010zyf.2_Missense_Mutation_p.A877T	p.A1584T	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		34	4902	+			1584					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.4750G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	34	5.371460	0.95923	.	.	ENSG00000124198	ENST00000371917	T	0.57907	0.37	5.9	5.9	0.94986	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77226	0.4099	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.78816	-0.2055	10	0.62326	D	0.03	.	20.2723	0.98479	0.0:0.0:1.0:0.0	.	1584	Q9Y6D5	BIG2_HUMAN	T	1584	ENSP00000360985:A1584T	ENSP00000360985:A1584T	A	+	1	0	ARFGEF2	47073120	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.700000	0.98707	2.793000	0.96121	0.563000	0.77884	GCC		0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
HRH3	11255	broad.mit.edu	37	20	60791534	60791534	+	Missense_Mutation	SNP	G	G	A	rs374571202		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:60791534G>A	ENST00000340177.5	-	3	1150	c.866C>T	c.(865-867)gCg>gTg	p.A289V	HRH3_ENST00000317393.6_Missense_Mutation_p.A289V	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	289					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	CCCGAGGGTCGCCTCCCCGGC	0.736																																						uc002yci.3																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(865-867)gCg>gTg		Homo sapiens histamine receptor H3 (HRH3), mRNA.	Histamine Phosphate(DB00667)																																			SO:0001583	missense	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791534G>A	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.866C>T	20.37:g.60791534G>A	ENSP00000342560:p.Ala289Val					HRH3_uc002ycf.2_Missense_Mutation_p.A289V|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	p.A289V	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		2	1163	-	Breast(26;7.76e-09)		289					Q4QRI7|Q9GZX2|Q9H4K8	Missense_Mutation	SNP	ENST00000340177.5	37	c.866C>T	CCDS13493.1	.	.	.	.	.	.	.	.	.	.	G	3.448	-0.112710	0.06881	.	.	ENSG00000101180	ENST00000340177;ENST00000317393;ENST00000370797	T;T	0.67865	-0.25;-0.29	4.15	-3.37	0.04898	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.42337	0.1198	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.15321	-1.0441	9	0.28530	T	0.3	0.04	2.0362	0.03540	0.2262:0.2577:0.3974:0.1187	.	289;289	Q9Y5N1-2;Q9Y5N1	.;HRH3_HUMAN	V	289;289;259	ENSP00000342560:A289V;ENSP00000321482:A289V	ENSP00000321482:A289V	A	-	2	0	HRH3	60224929	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.032000	0.03574	-0.941000	0.03700	-1.026000	0.02426	GCG		0.736	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232	
TMPRSS15	5651	broad.mit.edu	37	21	19642347	19642347	+	Missense_Mutation	SNP	C	C	T	rs192022515	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr21:19642347C>T	ENST00000284885.3	-	25	3032	c.2999G>A	c.(2998-3000)cGc>cAc	p.R1000H		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1000	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACTCCGGGGCGATTAGGCAG	0.448													C|||	3	0.000599042	0.0	0.0014	5008	,	,		11702	0.0		0.002	False		,,,				2504	0.0					uc002ykw.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2998-3000)cGc>cAc		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.							138.0	124.0	129.0					21																	19642347		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19642347C>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2999G>A	21.37:g.19642347C>T	ENSP00000284885:p.Arg1000His						p.R1000H	NM_002772	NP_002763	P98073	ENTK_HUMAN			24	3030	-			1000			Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.2999G>A	CCDS13571.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	C	13.63	2.295276	0.40594	.	.	ENSG00000154646	ENST00000284885	D	0.89617	-2.54	5.99	3.19	0.36642	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.254138	0.31834	N	0.006990	T	0.78246	0.4253	L	0.31664	0.95	0.37423	D	0.913701	P	0.40302	0.712	B	0.31442	0.13	T	0.74334	-0.3699	9	.	.	.	.	10.0569	0.42250	0.0:0.7896:0.0:0.2104	.	1000	P98073	ENTK_HUMAN	H	1000	ENSP00000284885:R1000H	.	R	-	2	0	TMPRSS15	18564218	0.402000	0.25311	0.991000	0.47740	0.498000	0.33706	1.109000	0.31135	0.414000	0.25790	0.655000	0.94253	CGC		0.448	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
AIFM3	150209	broad.mit.edu	37	22	21332217	21332217	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr22:21332217A>T	ENST00000399167.2	+	16	1640	c.1400A>T	c.(1399-1401)gAt>gTt	p.D467V	AIFM3_ENST00000335375.5_Missense_Mutation_p.D455V|AIFM3_ENST00000333607.6_Missense_Mutation_p.D467V|AIFM3_ENST00000399163.2_Missense_Mutation_p.D467V|AIFM3_ENST00000440238.2_Missense_Mutation_p.D467V|AIFM3_ENST00000405089.1_Missense_Mutation_p.D473V|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	467					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCAGCTGGCGATGCTGTCACC	0.582																																						uc002ztj.2																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(1399-1401)gAt>gTt		Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							136.0	99.0	112.0					22																	21332217		2203	4300	6503	SO:0001583	missense	150209				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21332217A>T	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1400A>T	22.37:g.21332217A>T	ENSP00000382120:p.Asp467Val					LZTR1_uc002ztk.2_Missense_Mutation_p.D467V|LZTR1_uc002ztl.2_Missense_Mutation_p.D473V|LZTR1_uc011ahx.1_Missense_Mutation_p.D455V|LZTR1_uc002ztn.3_5'Flank	p.D467V	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	1618	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	0			BTB 1.		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.1400A>T	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717879	0.48622	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98;-0.98	4.56	4.56	0.56223	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91768	0.7396	H	0.99415	4.555	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;0.998;0.999	D	0.94224	0.7470	10	0.87932	D	0	-8.6169	12.1655	0.54127	1.0:0.0:0.0:0.0	.	455;455;473;467;467	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	V	467;467;473;455;467;467	ENSP00000382120:D467V;ENSP00000382116:D467V;ENSP00000385800:D473V;ENSP00000335369:D455V;ENSP00000390798:D467V;ENSP00000327671:D467V	ENSP00000327671:D467V	D	+	2	0	AIFM3	19662217	1.000000	0.71417	0.872000	0.34217	0.059000	0.15707	5.560000	0.67332	1.822000	0.53115	0.460000	0.39030	GAT		0.582	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1	NM_144704	
UBP1	7342	broad.mit.edu	37	3	33454282	33454282	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:33454282T>C	ENST00000283629.3	-	4	909	c.380A>G	c.(379-381)cAa>cGa	p.Q127R	UBP1_ENST00000283628.5_Missense_Mutation_p.Q127R|UBP1_ENST00000447368.2_Missense_Mutation_p.Q127R|RNU7-110P_ENST00000516891.1_RNA	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	127					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CTCTGTGTATTGTAGCCGTCT	0.438																																						uc003cfq.4																			0		p.L126L(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						c.(379-381)cAa>cGa		Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.							278.0	248.0	258.0					3																	33454282		2203	4300	6503	SO:0001583	missense	7342				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr3:33454282T>C	AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.380A>G	3.37:g.33454282T>C	ENSP00000283629:p.Gln127Arg					UBP1_uc003cfr.4_Missense_Mutation_p.Q127R|UBP1_uc010hga.3_Missense_Mutation_p.Q127R	p.Q127R	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN			3	910	-			127					Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	ENST00000283629.3	37	c.380A>G	CCDS2659.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755286	0.69648	.	.	ENSG00000153560	ENST00000283629;ENST00000447368;ENST00000283628;ENST00000456378	T;T;T;T	0.15718	2.4;2.4;2.4;2.4	6.17	5.03	0.67393	CP2 transcription factor (1);	0.056721	0.64402	D	0.000001	T	0.27349	0.0671	M	0.78456	2.415	0.80722	D	1	B;B	0.22983	0.021;0.078	B;B	0.33690	0.016;0.168	T	0.09640	-1.0665	10	0.87932	D	0	-14.1663	11.8368	0.52330	0.0:0.0673:0.0:0.9327	.	127;127	Q9NZI7-4;Q9NZI7	.;UBIP1_HUMAN	R	127	ENSP00000283629:Q127R;ENSP00000395558:Q127R;ENSP00000283628:Q127R;ENSP00000401614:Q127R	ENSP00000283628:Q127R	Q	-	2	0	UBP1	33429286	1.000000	0.71417	0.862000	0.33874	0.998000	0.95712	6.288000	0.72679	2.371000	0.80710	0.533000	0.62120	CAA		0.438	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253249.2	NM_014517	
TMF1	7110	broad.mit.edu	37	3	69097485	69097485	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:69097485C>T	ENST00000398559.2	-	2	587	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	MIR3136_ENST00000583498.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.R124Q|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	124					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTCTTCTGGTCGTTGTGATTT	0.418																																						uc011bfx.2																			0				cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(370-372)cGa>cAa		Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.							315.0	297.0	303.0					3																	69097485		1938	4135	6073	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69097485C>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.371G>A	3.37:g.69097485C>T	ENSP00000381567:p.Arg124Gln					TMF1_uc003dnn.3_Missense_Mutation_p.R124Q	p.R124Q	NM_007114	NP_009045	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	1	618	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	124					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.371G>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729785	0.69074	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000438636	T;T	0.77489	-1.1;-1.1	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.88198	0.6372	M	0.71581	2.175	0.46798	D	0.999204	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.88186	0.2874	10	0.62326	D	0.03	-12.7671	19.8344	0.96650	0.0:1.0:0.0:0.0	.	124;124	P82094-2;P82094	.;TMF1_HUMAN	Q	124	ENSP00000381567:R124Q;ENSP00000438706:R124Q	ENSP00000381567:R124Q	R	-	2	0	TMF1	69180175	0.991000	0.36638	0.996000	0.52242	0.243000	0.25628	3.798000	0.55522	2.692000	0.91855	0.655000	0.94253	CGA		0.418	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	NM_007114	
IQCG	84223	broad.mit.edu	37	3	197616555	197616555	+	Missense_Mutation	SNP	G	G	A	rs372501872		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:197616555G>A	ENST00000265239.6	-	12	1652	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	IQCG_ENST00000455191.1_Missense_Mutation_p.R410W	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	410	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ATTTCTCTCCGTATCATAGTG	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		23065	0.0		0.0	False		,,,				2504	0.001					uc003fyo.3																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1228-1230)Cgg>Tgg		Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	202.0	183.0	190.0		1228,1228	0.1	0.0	3		190	0,8600		0,0,4300	no	missense,missense	IQCG	NM_001134435.1,NM_032263.3	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	410/444,410/444	197616555	1,13005	2203	4300	6503	SO:0001583	missense	84223							g.chr3:197616555G>A	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1228C>T	3.37:g.197616555G>A	ENSP00000265239:p.Arg410Trp					IQCG_uc003fyn.3_Missense_Mutation_p.R312W|IQCG_uc003fyp.3_Missense_Mutation_p.R410W	p.R410W	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	10	1374	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		410			IQ.		Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.1228C>T	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811632	0.70797	2.27E-4	0.0	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.65916	-0.18;-0.18	5.21	0.0886	0.14455	.	0.064441	0.64402	D	0.000008	T	0.79233	0.4411	M	0.88310	2.945	0.48040	D	0.999572	D	0.89917	1.0	D	0.97110	1.0	T	0.80301	-0.1440	10	0.87932	D	0	-18.4527	11.7689	0.51947	0.0:0.111:0.4295:0.4594	.	410	Q9H095	IQCG_HUMAN	W	410	ENSP00000265239:R410W;ENSP00000407736:R410W	ENSP00000265239:R410W	R	-	1	2	IQCG	199100952	0.946000	0.32159	0.020000	0.16555	0.389000	0.30415	1.640000	0.37186	-0.079000	0.12707	-0.175000	0.13238	CGG		0.463	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1	NM_032263	
NPFFR2	10886	broad.mit.edu	37	4	72897628	72897628	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr4:72897628T>A	ENST00000308744.6	+	1	108	c.10T>A	c.(10-12)Ttc>Atc	p.F4I	NPFFR2_ENST00000344413.5_Missense_Mutation_p.F4I	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	4					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TATGAATAGCTTCTTCGGAAC	0.562																																						uc003hgg.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(10-12)Ttc>Atc		Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.							32.0	36.0	34.0					4																	72897628		2177	4258	6435	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:72897628T>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.10T>A	4.37:g.72897628T>A	ENSP00000307822:p.Phe4Ile					NPFFR2_uc010iig.2_5'UTR	p.F4I	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		0	108	+			4					Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.10T>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180489	0.38511	.	.	ENSG00000056291	ENST00000308744;ENST00000344413	T	0.74842	-0.88	3.19	3.19	0.36642	.	0.296687	0.19060	U	0.123787	T	0.51584	0.1683	N	0.08118	0	0.24154	N	0.99568	B	0.26002	0.139	B	0.19666	0.026	T	0.50676	-0.8800	10	0.87932	D	0	.	8.1474	0.31119	0.0:0.0:0.0:1.0	.	4	Q9Y5X5	NPFF2_HUMAN	I	4	ENSP00000307822:F4I	ENSP00000307822:F4I	F	+	1	0	NPFFR2	73116492	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.255000	0.18333	1.732000	0.51606	0.397000	0.26171	TTC		0.562	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885	
ROPN1L	83853	broad.mit.edu	37	5	10461398	10461398	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:10461398T>G	ENST00000503804.1	+	5	1041	c.520T>G	c.(520-522)Tac>Gac	p.Y174D	ROPN1L_ENST00000274134.4_Missense_Mutation_p.Y174D|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	174					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGTTTACCGCTACTTGGCCAG	0.527																																						uc021xwo.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						c.(520-522)Tac>Gac		Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.							134.0	126.0	129.0					5																	10461398		2203	4300	6503	SO:0001583	missense	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10461398T>G	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.520T>G	5.37:g.10461398T>G	ENSP00000421405:p.Tyr174Asp					ROPN1L_uc003jex.4_Missense_Mutation_p.Y174D	p.Y174D	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN			4	703	+			174					D3DTC9|Q9BZX0	Missense_Mutation	SNP	ENST00000503804.1	37	c.520T>G	CCDS3879.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458864	0.43634	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.23552	1.9;1.9	4.9	4.9	0.64082	.	0.063751	0.64402	D	0.000004	T	0.54806	0.1881	M	0.87269	2.87	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.62868	-0.6763	10	0.87932	D	0	-13.4836	12.0685	0.53603	0.0:0.0:0.0:1.0	.	174	Q96C74	ROP1L_HUMAN	D	174	ENSP00000421405:Y174D;ENSP00000274134:Y174D	ENSP00000274134:Y174D	Y	+	1	0	ROPN1L	10514398	1.000000	0.71417	0.225000	0.23894	0.034000	0.12701	5.227000	0.65305	1.835000	0.53391	0.460000	0.39030	TAC		0.527	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916	
VCAN	1462	broad.mit.edu	37	5	82816676	82816676	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:82816676G>A	ENST00000265077.3	+	7	3116	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	VCAN_ENST00000342785.4_Missense_Mutation_p.A851T|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.A803T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	851	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TGAAGATGGAGCAGATGAATT	0.408																																						uc003kii.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(2551-2553)Gca>Aca		Homo sapiens versican (VCAN), transcript variant 1, mRNA.							105.0	105.0	105.0					5																	82816676		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82816676G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2551G>A	5.37:g.82816676G>A	ENSP00000265077:p.Ala851Thr					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A851T|VCAN_uc003kik.3_Intron	p.A851T	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	6	2907	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	851			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.2551G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	0.215	-1.033521	0.02029	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.18502	2.21;2.21;2.21	5.5	-1.85	0.07784	.	1.098160	0.06897	N	0.805263	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B;B	0.22851	0.066;0.076	B;B	0.26310	0.068;0.031	T	0.43343	-0.9397	10	0.15066	T	0.55	.	10.4074	0.44272	0.5604:0.0:0.4396:0.0	.	851;851	P13611-3;P13611	.;CSPG2_HUMAN	T	851;851;803	ENSP00000265077:A851T;ENSP00000342768:A851T;ENSP00000425959:A803T	ENSP00000265077:A851T	A	+	1	0	VCAN	82852432	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	0.088000	0.14979	-0.290000	0.09025	0.650000	0.86243	GCA		0.408	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385	
ADAMTS2	9509	broad.mit.edu	37	5	178555036	178555036	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:178555036G>A	ENST00000251582.7	-	17	2642	c.2541C>T	c.(2539-2541)aaC>aaT	p.N847N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	847	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N847N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587																																						uc003mjw.3																			1	Substitution - coding silent(1)	p.N847N(2)	kidney(1)	breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2539-2541)aaC>aaT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.							203.0	164.0	177.0					5																	178555036		2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178555036G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2541C>T	5.37:g.178555036G>A							p.N847N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	16	2643	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	847			Spacer.			Silent	SNP	ENST00000251582.7	37	c.2541C>T	CCDS4444.1																																																																																				0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244	
OR2B6	26212	broad.mit.edu	37	6	27925491	27925491	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:27925491G>T	ENST00000244623.1	+	1	473	c.473G>T	c.(472-474)tGg>tTg	p.W158L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCAGTGTGGTTGTCTACC	0.493																																						uc011dkx.2																			0				endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(472-474)tGg>tTg		Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.							107.0	111.0	110.0					6																	27925491		2203	4300	6503	SO:0001583	missense	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925491G>T	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.473G>T	6.37:g.27925491G>T	ENSP00000244623:p.Trp158Leu						p.W158L	NM_012367	NP_036499	P58173	OR2B6_HUMAN			0	473	+			158					O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	ENST00000244623.1	37	c.473G>T	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	g	0.097	-1.157835	0.01686	.	.	ENSG00000124657	ENST00000244623	T	0.32753	1.44	3.55	-1.4	0.08968	GPCR, rhodopsin-like superfamily (1);	1.079970	0.07470	N	0.902145	T	0.01320	0.0043	N	0.00089	-2.185	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.43766	-0.9371	10	0.10902	T	0.67	.	7.4246	0.27092	0.0:0.1492:0.2466:0.6041	.	158	P58173	OR2B6_HUMAN	L	158	ENSP00000244623:W158L	ENSP00000244623:W158L	W	+	2	0	OR2B6	28033470	0.000000	0.05858	0.003000	0.11579	0.924000	0.55760	-2.980000	0.00663	-0.089000	0.12484	0.467000	0.42956	TGG		0.493	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1		
APOBEC2	10930	broad.mit.edu	37	6	41029317	41029317	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:41029317T>C	ENST00000244669.2	+	2	426	c.382T>C	c.(382-384)Tgt>Cgt	p.C128R		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	128					cytidine deamination (GO:0009972)|DNA demethylation (GO:0080111)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)		cytidine deaminase activity (GO:0004126)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCCAGCCCCTGTGCAGCGTG	0.572																																					Ovarian(118;1320 2185 8096 29684)	uc003opl.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10						c.(382-384)Tgt>Cgt		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.							178.0	162.0	167.0					6																	41029317		2203	4300	6503	SO:0001583	missense	10930				DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	g.chr6:41029317T>C	AF161698	CCDS4848.1	6p21	2008-02-05			ENSG00000124701	ENSG00000124701		"""Apolipoprotein B mRNA editing enzymes"""	605	protein-coding gene	gene with protein product		604797				10403781	Standard	NM_006789		Approved	ARCD1, ARP1	uc003opl.3	Q9Y235	OTTHUMG00000014670	ENST00000244669.2:c.382T>C	6.37:g.41029317T>C	ENSP00000244669:p.Cys128Arg					UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	p.C128R	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN			1	529	+	Ovarian(28;0.0418)|Colorectal(47;0.196)		128					B2R899|Q53F28|Q5TGU5|Q5TGU6	Missense_Mutation	SNP	ENST00000244669.2	37	c.382T>C	CCDS4848.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.227767	0.79576	.	.	ENSG00000124701	ENST00000244669	D	0.98649	-5.05	5.69	5.69	0.88448	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.99223	0.9730	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99308	1.0903	10	0.87932	D	0	.	15.1232	0.72460	0.0:0.0:0.0:1.0	.	128	Q9Y235	ABEC2_HUMAN	R	128	ENSP00000244669:C128R	ENSP00000244669:C128R	C	+	1	0	APOBEC2	41137295	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.698000	0.84413	2.162000	0.67917	0.533000	0.62120	TGT		0.572	APOBEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040498.1	NM_006789	
PNLDC1	154197	broad.mit.edu	37	6	160240043	160240043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:160240043G>A	ENST00000610273.1	+	17	1461	c.1290G>A	c.(1288-1290)tgG>tgA	p.W430*	PNLDC1_ENST00000392167.3_Nonsense_Mutation_p.W441*	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	430						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAAAAGGTGGCCTGGGGTCA	0.463																																						uc003qsy.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31						c.(1321-1323)tgG>tgA		Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.							103.0	104.0	104.0					6																	160240043		2203	4300	6503	SO:0001587	stop_gained	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160240043G>A	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1290G>A	6.37:g.160240043G>A	ENSP00000476448:p.Trp430*					PNLDC1_uc003qsx.1_Nonsense_Mutation_p.W430*	p.W441*	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	16	1362	+		Breast(66;0.00519)|Ovarian(120;0.123)	430					Q5TAP7|Q8N7X5	Nonsense_Mutation	SNP	ENST00000610273.1	37	c.1323G>A	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266414	0.80358	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	4.57	0.56435	.	0.114392	0.40554	N	0.001063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	15.7163	0.77670	0.0:0.0:1.0:0.0	.	.	.	.	X	430;441	.	ENSP00000275275:W430X	W	+	3	0	PNLDC1	160160033	1.000000	0.71417	0.979000	0.43373	0.136000	0.21042	1.861000	0.39438	2.360000	0.80028	0.462000	0.41574	TGG		0.463	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	
PRPS1L1	221823	broad.mit.edu	37	7	18066638	18066638	+	Silent	SNP	T	T	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:18066638T>A	ENST00000506618.2	-	1	848	c.768A>T	c.(766-768)ccA>ccT	p.P256P		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	256					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GAGAAATGGCTGGGCCAGAAA	0.448																																						uc003stz.3																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18						c.(766-768)ccA>ccT		Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.							113.0	113.0	113.0					7																	18066638		2201	4300	6501	SO:0001819	synonymous_variant	221823				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chr7:18066638T>A	M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.768A>T	7.37:g.18066638T>A							p.P256P	NM_175886	NP_787082	P21108	PRPS3_HUMAN			0	849	-	Lung NSC(10;0.0385)|all_lung(11;0.0736)		256					Q6P5P6	Silent	SNP	ENST00000506618.2	37	c.768A>T	CCDS47552.1																																																																																				0.448	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886	
SAMD9	54809	broad.mit.edu	37	7	92730646	92730646	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:92730646C>G	ENST00000379958.2	-	3	5034	c.4765G>C	c.(4765-4767)Gtt>Ctt	p.V1589L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1589						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCTCTTAAACAATTTCAATG	0.378																																						uc003umf.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(4765-4767)Gtt>Ctt		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							113.0	121.0	118.0					7																	92730646		2203	4298	6501	SO:0001583	missense	54809					cytoplasm		g.chr7:92730646C>G	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4765G>C	7.37:g.92730646C>G	ENSP00000369292:p.Val1589Leu					SAMD9_uc003umg.3_Missense_Mutation_p.V1589L|SAMD9_uc022ahg.1_Missense_Mutation_p.V1589L	p.V1589L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	5035	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1589					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.4765G>C	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	2.905	-0.226606	0.06022	.	.	ENSG00000205413	ENST00000379958	T	0.24350	1.86	4.61	-2.35	0.06684	.	0.618137	0.14115	N	0.340428	T	0.07458	0.0188	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20306	-1.0279	10	0.56958	D	0.05	.	3.2796	0.06911	0.1198:0.15:0.1203:0.6098	.	1589	Q5K651	SAMD9_HUMAN	L	1589	ENSP00000369292:V1589L	ENSP00000369292:V1589L	V	-	1	0	SAMD9	92568582	0.069000	0.21087	0.027000	0.17364	0.012000	0.07955	0.127000	0.15790	-0.398000	0.07679	-0.192000	0.12808	GTT		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
EGR3	1960	broad.mit.edu	37	8	22550311	22550311	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:22550311C>T	ENST00000317216.2	-	1	504	c.147G>A	c.(145-147)atG>atA	p.M49I	EGR3_ENST00000519492.1_Missense_Mutation_p.M49I|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_5'Flank|EGR3_ENST00000524088.1_5'Flank	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	49					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TACCTGTAGCCATCTGATTGT	0.602																																						uc003xcm.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(145-147)atG>atA		Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.							69.0	67.0	67.0					8																	22550311		2203	4300	6503	SO:0001583	missense	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22550311C>T	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.147G>A	8.37:g.22550311C>T	ENSP00000318057:p.Met49Ile					EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.2_5'Flank	p.M49I	NM_004430	NP_001186810	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	0	505	-		Prostate(55;0.0421)|Breast(100;0.102)	49					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	c.147G>A	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597873	0.46318	.	.	ENSG00000179388	ENST00000317216;ENST00000519492	T	0.07327	3.2	4.65	3.77	0.43336	.	0.244821	0.38381	N	0.001707	T	0.06050	0.0157	N	0.19112	0.55	0.52099	D	0.999948	B	0.02656	0.0	B	0.01281	0.0	T	0.29971	-0.9994	10	0.41790	T	0.15	-1.5315	10.7773	0.46356	0.0:0.9063:0.0:0.0937	.	49	Q06889	EGR3_HUMAN	I	49	ENSP00000318057:M49I	ENSP00000318057:M49I	M	-	3	0	EGR3	22606256	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.710000	0.74670	1.315000	0.45114	0.555000	0.69702	ATG		0.602	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430	
CNGB3	54714	broad.mit.edu	37	8	87666239	87666239	+	Splice_Site	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:87666239C>T	ENST00000320005.5	-	7	951		c.e7+1			NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTGTCACCTACCTGAAATTTT	0.303																																						uc003ydx.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.e7+1		Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.							142.0	141.0	141.0					8																	87666239		2202	4300	6502	SO:0001630	splice_region_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87666239C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.903+1G>A	8.37:g.87666239C>T						CNGB3_uc010maj.3_Splice_Site_p.Q163_splice	p.Q301_splice	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			7	951	-			301					C9JA51|Q9NRE9	Splice_Site	SNP	ENST00000320005.5	37	c.903_splice	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835071	0.71373	.	.	ENSG00000170289	ENST00000320005	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.89	0.88869	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNGB3	87735355	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	4.172000	0.58243	2.516000	0.84829	0.555000	0.69702	.		0.303	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	Intron
RGS22	26166	broad.mit.edu	37	8	101065160	101065160	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:101065160G>A	ENST00000360863.6	-	10	1753	c.1559C>T	c.(1558-1560)gCt>gTt	p.A520V	RGS22_ENST00000523287.1_Missense_Mutation_p.A339V|RGS22_ENST00000523437.1_Missense_Mutation_p.A508V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	520					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCAGCACTAGCATATTTTGT	0.393																																						uc003yjb.1																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1558-1560)gCt>gTt		Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.							199.0	193.0	194.0					8																	101065160		1875	4112	5987	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101065160G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1559C>T	8.37:g.101065160G>A	ENSP00000354109:p.Ala520Val					RGS22_uc003yja.1_Missense_Mutation_p.A339V|RGS22_uc003yjc.1_Missense_Mutation_p.A508V|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.A424V	p.A520V	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		9	1754	-			520					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1559C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.920464	0.00498	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.32988	1.43;1.43;1.43	5.13	1.17	0.20885	.	0.525492	0.19186	N	0.120552	T	0.23210	0.0561	L	0.50919	1.6	0.09310	N	1	B;B;B	0.22541	0.071;0.071;0.005	B;B;B	0.22386	0.039;0.039;0.011	T	0.30060	-0.9991	10	0.13853	T	0.58	.	8.7802	0.34787	0.4833:0.0:0.5167:0.0	.	508;520;339	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	V	520;508;339;508	ENSP00000354109:A520V;ENSP00000429382:A339V;ENSP00000428212:A508V	ENSP00000354109:A520V	A	-	2	0	RGS22	101134336	0.927000	0.31430	0.002000	0.10522	0.008000	0.06430	1.776000	0.38594	-0.010000	0.14271	-0.157000	0.13467	GCT		0.393	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
DMRT3	58524	broad.mit.edu	37	9	990870	990870	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:990870C>T	ENST00000190165.2	+	2	1322	c.1284C>T	c.(1282-1284)cgC>cgT	p.R428R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	428					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TTCCTGCCCGCGCCACGGAAG	0.552																																						uc003zgw.1																			0		p.R428C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1282-1284)cgC>cgT		Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.							82.0	71.0	75.0					9																	990870		2203	4300	6503	SO:0001819	synonymous_variant	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990870C>T	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1284C>T	9.37:g.990870C>T							p.R428R	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	1	1322	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	428					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	ENST00000190165.2	37	c.1284C>T	CCDS6443.1																																																																																				0.552	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240	
GAPVD1	26130	broad.mit.edu	37	9	128092422	128092422	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:128092422G>A	ENST00000495955.1	+	13	2388	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	GAPVD1_ENST00000312123.9_Missense_Mutation_p.D679N|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D700N|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D700N|GAPVD1_ENST00000470056.1_Missense_Mutation_p.D700N|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D700N|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D700N|GAPVD1_ENST00000394083.2_Missense_Mutation_p.D679N			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	700					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGTGCTTCTTGACCCCTGCAC	0.478																																						uc004bpp.3																			0		p.L699V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2098-2100)Gac>Aac		Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.							244.0	213.0	224.0					9																	128092422		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128092422G>A		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2098G>A	9.37:g.128092422G>A	ENSP00000419063:p.Asp700Asn					GAPVD1_uc011lzs.1_Missense_Mutation_p.D700N|GAPVD1_uc004bpq.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwx.3_Missense_Mutation_p.D700N|GAPVD1_uc004bpr.3_Missense_Mutation_p.D679N|GAPVD1_uc004bps.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D559N	p.D700N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			10	2258	+			700					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2098G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.302406	0.95601	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	T;T;T;T;T;T;T;T;T	0.14144	2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53;2.53	5.06	5.06	0.68205	.	0.045745	0.85682	D	0.000000	T	0.18257	0.0438	N	0.03608	-0.345	0.80722	D	1	D;D;D;D;D;D	0.71674	0.996;0.993;0.996;0.996;0.996;0.998	D;D;D;D;D;D	0.78314	0.987;0.971;0.981;0.981;0.981;0.991	T	0.46707	-0.9172	10	0.62326	D	0.03	.	17.7858	0.88538	0.0:0.0:1.0:0.0	.	700;700;700;679;700;700	Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.;GAPD1_HUMAN;.;.;.;.	N	700;700;700;700;679;700;700;700;679	ENSP00000419767:D700N;ENSP00000377665:D700N;ENSP00000377664:D700N;ENSP00000265956:D700N;ENSP00000377645:D679N;ENSP00000419063:D700N;ENSP00000418747:D700N;ENSP00000297933:D700N;ENSP00000309582:D679N	ENSP00000265956:D700N	D	+	1	0	GAPVD1	127132243	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.411000	0.97342	2.516000	0.84829	0.650000	0.86243	GAC		0.478	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
PNPLA4	8228	broad.mit.edu	37	X	7870101	7870101	+	Nonsense_Mutation	SNP	G	G	A	rs372843326		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:7870101G>A	ENST00000381042.4	-	6	729	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PNPLA4_ENST00000537427.1_Nonsense_Mutation_p.R100*|PNPLA4_ENST00000444736.1_Nonsense_Mutation_p.R187*	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	187			R -> Q (in dbSNP:rs2231793).		lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ATGTCCAGTCGTCCACTGAAG	0.512																																						uc011mhq.1																			0				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						c.(559-561)Cga>Tga		Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG,stop/ARG	2,3833		0,1,1,1631,570	126.0	107.0	113.0		559,298,559	3.0	0.0	X		113	0,6727		0,0,0,2428,1871	no	stop-gained,stop-gained,stop-gained	PNPLA4	NM_001142389.1,NM_001172672.1,NM_004650.2	,,	0,1,1,4059,2441	AA,AG,A,GG,G		0.0,0.0522,0.0189	,,	187/254,100/167,187/254	7870101	2,10560	2203	4299	6502	SO:0001587	stop_gained	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7870101G>A	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.559C>T	X.37:g.7870101G>A	ENSP00000370430:p.Arg187*					PNPLA4_uc011mhr.1_Nonsense_Mutation_p.R187*|PNPLA4_uc011mhs.1_Nonsense_Mutation_p.R100*	p.R187*	NM_004650	NP_001166143	P41247	PLPL4_HUMAN			5	721	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	187		R -> Q (in dbSNP:rs2231793).			A8K1H3|B4E362|Q8WW83	Nonsense_Mutation	SNP	ENST00000381042.4	37	c.559C>T	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.180981	0.57800	5.22E-4	0.0	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427;ENST00000442940	.	.	.	3.84	2.97	0.34412	.	0.292311	0.29009	N	0.013434	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-16.2959	8.0924	0.30807	0.0:0.0:0.7596:0.2404	.	.	.	.	X	187;187;100;187	.	ENSP00000370430:R187X	R	-	1	2	PNPLA4	7830101	0.182000	0.23173	0.011000	0.14972	0.933000	0.57130	1.978000	0.40598	0.786000	0.33708	0.600000	0.82982	CGA		0.512	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650	
SMS	6611	broad.mit.edu	37	X	21995314	21995314	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:21995314G>A	ENST00000404933.2	+	5	717	c.465G>A	c.(463-465)tcG>tcA	p.S155S	SMS_ENST00000415881.2_Silent_p.S59S|SMS_ENST00000478094.1_3'UTR|SMS_ENST00000379404.1_Silent_p.S102S	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	155	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TTCTACACTCGAAGCAGTTTG	0.433																																						uc004dag.3																			0		p.S155L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14						c.(463-465)tcG>tcA		Homo sapiens spermine synthase (SMS), mRNA.	Spermine(DB00127)						83.0	85.0	84.0					X																	21995314		2203	4300	6503	SO:0001819	synonymous_variant	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:21995314G>A	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.465G>A	X.37:g.21995314G>A						SMS_uc011mjq.2_Silent_p.S59S	p.S155S	NM_004595	NP_004586	P52788	SPSY_HUMAN			4	693	+			155					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Silent	SNP	ENST00000404933.2	37	c.465G>A	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	G	0.270	-0.993831	0.02145	.	.	ENSG00000102172	ENST00000457085	.	.	.	5.73	-11.5	0.00074	.	.	.	.	.	T	0.63954	0.2555	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.82313	-0.0519	4	.	.	.	-9.5493	19.5087	0.95132	0.7932:0.0:0.1358:0.0709	.	.	.	.	K	247	.	.	E	+	1	0	SMS	21905235	0.000000	0.05858	0.007000	0.13788	0.258000	0.26162	-2.583000	0.00904	-4.082000	0.00075	-2.184000	0.00315	GAA		0.433	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595	
MAOB	4129	broad.mit.edu	37	X	43628565	43628565	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:43628565C>G	ENST00000378069.4	-	13	1483	c.1336G>C	c.(1336-1338)Gca>Cca	p.A446P	MAOB_ENST00000538942.1_Missense_Mutation_p.S397T|MAOB_ENST00000536181.1_Missense_Mutation_p.A430P	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	446					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	TCTCGGGCTGCTCTCTCCCCG	0.572																																						uc004dfz.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21						c.(1336-1338)Gca>Cca		Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)						74.0	54.0	61.0					X																	43628565		2203	4300	6503	SO:0001583	missense	4129				xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity	g.chrX:43628565C>G		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.1336G>C	X.37:g.43628565C>G	ENSP00000367309:p.Ala446Pro					MAOB_uc011mkx.2_Missense_Mutation_p.S397T|MAOB_uc011mky.2_Missense_Mutation_p.A430P	p.A446P	NM_000898	NP_000889	P27338	AOFB_HUMAN			12	1512	-			446					B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	c.1336G>C	CCDS14261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.13|18.13	3.555589|3.555589	0.65425|0.65425	.|.	.|.	ENSG00000069535|ENSG00000069535	ENST00000378069;ENST00000536181|ENST00000538942	D;D|T	0.95342|0.34472	-3.68;-3.68|1.36	6.03|6.03	6.03|6.03	0.97812|0.97812	Amine oxidase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56514|0.56514	0.1990|0.1990	H|H	0.95712|0.95712	3.71|3.71	0.41343|0.41343	D|D	0.987319|0.987319	D|P	0.89917|0.43633	1.0|0.813	D|B	0.81914|0.40165	0.995|0.321	T|T	0.71596|0.71596	-0.4545|-0.4545	10|8	0.72032|.	D|.	0.01|.	-15.9354|-15.9354	18.0899|18.0899	0.89471|0.89471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	446|397	P27338|B7Z5H3	AOFB_HUMAN|.	P|T	446;430|397	ENSP00000367309:A446P;ENSP00000441613:A430P|ENSP00000442240:S397T	ENSP00000367309:A446P|.	A|S	-|-	1|2	0|0	MAOB|MAOB	43513509|43513509	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.756000|0.756000	0.42949|0.42949	7.008000|7.008000	0.76341|0.76341	2.549000|2.549000	0.85964|0.85964	0.583000|0.583000	0.79449|0.79449	GCA|AGC		0.572	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898	
CFP	5199	broad.mit.edu	37	X	47486225	47486225	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:47486225C>G	ENST00000396992.3	-	6	1007	c.887G>C	c.(886-888)tGt>tCt	p.C296S	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Missense_Mutation_p.C296S|CFP_ENST00000377005.2_Missense_Mutation_p.C296S	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	296	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCGCCAGCACAGAAGGGGCC	0.642																																						uc004dih.3																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						c.(886-888)tGt>tCt		Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.							45.0	41.0	42.0					X																	47486225		2203	4298	6501	SO:0001583	missense	5199				complement activation, alternative pathway|defense response to bacterium	extracellular space		g.chrX:47486225C>G	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.887G>C	X.37:g.47486225C>G	ENSP00000380189:p.Cys296Ser					CFP_uc004dig.4_Missense_Mutation_p.C296S|CFP_uc004dii.1_Missense_Mutation_p.C232S|CFP_uc010nhu.2_Missense_Mutation_p.C296S	p.C296S	NM_002621	NP_002612	P27918	PROP_HUMAN			6	1129	-			296			TSP type-1 4.		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	c.887G>C	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.388785	0.61956	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.88466	0.6444	H	0.98487	4.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92313	0.5859	10	0.87932	D	0	.	13.5925	0.61967	0.0:1.0:0.0:0.0	.	232;296	B3KVK6;P27918	.;PROP_HUMAN	S	296;296;296;161	ENSP00000380189:C296S;ENSP00000247153:C296S;ENSP00000366204:C296S;ENSP00000418258:C161S	ENSP00000247153:C296S	C	-	2	0	CFP	47371169	1.000000	0.71417	0.091000	0.20842	0.617000	0.37484	5.862000	0.69560	2.365000	0.80145	0.529000	0.55759	TGT		0.642	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621	
DGAT2L6	347516	broad.mit.edu	37	X	69421881	69421881	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:69421881G>A	ENST00000333026.3	+	5	714	c.614G>A	c.(613-615)cGt>cAt	p.R205H		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	205					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTCAAGCAGCGTAAAGGTTTT	0.547																																						uc004dxx.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						c.(613-615)cGt>cAt		Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.							92.0	66.0	75.0					X																	69421881		2203	4300	6503	SO:0001583	missense	347516				lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:69421881G>A	AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.614G>A	X.37:g.69421881G>A	ENSP00000328036:p.Arg205His						p.R205H	NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN			4	711	+			205					Q6IEE2	Missense_Mutation	SNP	ENST00000333026.3	37	c.614G>A	CCDS14397.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561508	0.45590	.	.	ENSG00000184210	ENST00000333026	T	0.28255	1.62	4.72	3.86	0.44501	.	0.000000	0.64402	D	0.000003	T	0.38081	0.1027	M	0.84156	2.68	0.51767	D	0.999937	B	0.28801	0.223	B	0.31290	0.127	T	0.37361	-0.9709	10	0.72032	D	0.01	-10.2623	10.13	0.42674	0.1008:0.0:0.8992:0.0	.	205	Q6ZPD8	DG2L6_HUMAN	H	205	ENSP00000328036:R205H	ENSP00000328036:R205H	R	+	2	0	DGAT2L6	69338606	0.993000	0.37304	0.134000	0.22075	0.671000	0.39405	4.522000	0.60539	1.116000	0.41820	0.594000	0.82650	CGT		0.547	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057067.1	NM_198512	
ATP7A	538	broad.mit.edu	37	X	77296145	77296145	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:77296145G>T	ENST00000341514.6	+	19	3870	c.3715G>T	c.(3715-3717)Gct>Tct	p.A1239S	ATP7A_ENST00000343533.5_Missense_Mutation_p.A1161S|ATP7A_ENST00000350425.4_Missense_Mutation_p.A242S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1239					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGCAGAACTGGCTATCCATAT	0.413																																						uc004ecx.4																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						c.(3715-3717)Gct>Tct		Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.							141.0	132.0	135.0					X																	77296145		2203	4300	6503	SO:0001583	missense	538				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	g.chrX:77296145G>T	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3715G>T	X.37:g.77296145G>T	ENSP00000345728:p.Ala1239Ser						p.A1239S	NM_000052	NP_000043	Q04656	ATP7A_HUMAN			18	3875	+			1239					B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	ENST00000341514.6	37	c.3715G>T	CCDS35339.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125822	0.56721	.	.	ENSG00000165240	ENST00000343533;ENST00000350425;ENST00000341514	D;D;D	0.97209	-4.29;-4.29;-4.29	4.77	4.77	0.60923	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	M	0.74258	2.255	0.80722	D	1	B	0.26635	0.155	B	0.39935	0.314	D	0.97397	0.9993	10	0.87932	D	0	-15.9209	17.202	0.86908	0.0:0.0:1.0:0.0	.	1239	Q04656	ATP7A_HUMAN	S	1161;242;1239	ENSP00000343026:A1161S;ENSP00000343678:A242S;ENSP00000345728:A1239S	ENSP00000345728:A1239S	A	+	1	0	ATP7A	77182801	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	9.683000	0.98657	2.071000	0.62044	0.370000	0.22315	GCT		0.413	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057306.1	NM_000052	
TMSB15A	11013	broad.mit.edu	37	X	101770022	101770022	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:101770022C>T	ENST00000289373.4	-	2	205	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_021992.2	NP_068832.1	P0CG34	TB15A_HUMAN	thymosin beta 15a	24					actin cytoskeleton organization (GO:0030036)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				large_intestine(1)|lung(1)	2						TTTTTTTCTTCAGTATTAGTT	0.368																																						uc004eje.3																			0				large_intestine(1)|lung(1)	2						c.(70-72)Gaa>Aaa		Homo sapiens thymosin beta 15a (TMSB15A), mRNA.							134.0	127.0	130.0					X																	101770022		2203	4300	6503	SO:0001583	missense	11013				actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding	g.chrX:101770022C>T	D82345	CCDS14498.1	Xq21.33-q22.3	2009-01-12	2009-01-12	2009-01-12	ENSG00000158164	ENSG00000158164			30744	protein-coding gene	gene with protein product		601587	"""thymosin-like 8"""	TMSL8		9039501, 17567946	Standard	NM_021992		Approved	TMSNB	uc004eje.3	P0CG34	OTTHUMG00000022054	ENST00000289373.4:c.70G>A	X.37:g.101770022C>T	ENSP00000289373:p.Glu24Lys						p.E24K	NM_021992	NP_919305	P0CG34	TB15A_HUMAN			1	193	-			24					A8K614|Q99406	Missense_Mutation	SNP	ENST00000289373.4	37	c.70G>A	CCDS14498.1	.	.	.	.	.	.	.	.	.	.	C	9.359	1.067541	0.20067	.	.	ENSG00000158164	ENST00000289373	T	0.43294	0.95	3.65	0.785	0.18584	.	0.102627	0.35525	N	0.003141	T	0.27559	0.0677	.	.	.	0.18873	N	0.999985	B	0.02656	0.0	B	0.10450	0.005	T	0.16453	-1.0402	9	0.45353	T	0.12	-21.8701	7.1635	0.25677	0.0:0.6528:0.0:0.3472	.	24	P0CG34	TB15A_HUMAN	K	24	ENSP00000289373:E24K	ENSP00000289373:E24K	E	-	1	0	TMSB15A	101656678	0.939000	0.31865	0.013000	0.15412	0.262000	0.26303	0.385000	0.20685	0.138000	0.18790	0.529000	0.55759	GAA		0.368	TMSB15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057621.1	NM_021992	
GPRASP2	114928	broad.mit.edu	37	X	101970131	101970131	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:101970131A>G	ENST00000535209.1	+	4	1165	c.334A>G	c.(334-336)Act>Gct	p.T112A	GPRASP2_ENST00000543253.1_Missense_Mutation_p.T112A|GPRASP2_ENST00000332262.5_Missense_Mutation_p.T112A			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	112						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TCGTTCTAAAACTGATGCCAA	0.572																																						uc022cbh.1																			0											c.(334-336)Act>Gct		Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.							88.0	89.0	88.0					X																	101970131		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101970131A>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.334A>G	X.37:g.101970131A>G	ENSP00000437394:p.Thr112Ala					ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.T112A	p.T112A	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN			0	334	+			112					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.334A>G	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	A	6.934	0.542031	0.13250	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.04083	3.71;3.71;3.71	4.76	3.62	0.41486	.	0.134152	0.34725	N	0.003733	T	0.02418	0.0074	L	0.29908	0.895	0.25122	N	0.990634	P	0.36086	0.536	B	0.25405	0.06	T	0.34279	-0.9835	10	0.02654	T	1	.	7.088	0.25267	0.8904:0.0:0.1096:0.0	.	112	Q96D09	GASP2_HUMAN	A	112	ENSP00000437872:T112A;ENSP00000437394:T112A;ENSP00000339057:T112A	ENSP00000339057:T112A	T	+	1	0	GPRASP2	101856787	0.025000	0.19082	0.839000	0.33178	0.003000	0.03518	0.178000	0.16820	1.830000	0.53286	0.486000	0.48141	ACT		0.572	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437	
RAB9B	51209	broad.mit.edu	37	X	103080388	103080388	+	Silent	SNP	C	C	T	rs142893082	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:103080388C>T	ENST00000243298.2	-	3	611	c.327G>A	c.(325-327)gcG>gcA	p.A109A		NM_016370.2	NP_057454.1	Q9NP90	RAB9B_HUMAN	RAB9B, member RAS oncogene family	109					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CCTTCACATCCGCATAGTAAA	0.488													C|||	1	0.000264901	0.0	0.0	3775	,	,		15686	0.0		0.001	False		,,,				2504	0.0					uc004ell.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						c.(325-327)gcG>gcA		Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.		C		2,3833		0,2,0,1630,571	141.0	142.0	141.0		327	3.4	1.0	X	dbSNP_134	141	12,6716		0,7,5,2421,1867	no	coding-synonymous	RAB9B	NM_016370.2		0,9,5,4051,2438	TT,TC,T,CC,C		0.1784,0.0522,0.1325		109/202	103080388	14,10549	2203	4300	6503	SO:0001819	synonymous_variant	51209				Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding	g.chrX:103080388C>T	AB036693	CCDS14515.1	Xq22.1-q22.3	2010-04-19			ENSG00000123570	ENSG00000123570		"""RAB, member RAS oncogene"""	14090	protein-coding gene	gene with protein product		300285				11043518	Standard	NM_016370		Approved	RAB9L	uc004ell.2	Q9NP90	OTTHUMG00000022112	ENST00000243298.2:c.327G>A	X.37:g.103080388C>T						RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Silent_p.A109A	p.A109A	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN			2	666	-			109					B2R8M0|Q52LX2	Silent	SNP	ENST00000243298.2	37	c.327G>A	CCDS14515.1																																																																																				0.488	RAB9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057746.1		
