#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
NUP98	4928	hgsc.bcm.edu;broad.mit.edu	37	11	3697451	3697451	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:3697451T>C	ENST00000324932.7	-	33	5761	c.5341A>G	c.(5341-5343)Atg>Gtg	p.M1781V	NUP98_ENST00000355260.3_Missense_Mutation_p.M1707V|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1798					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTTCGTCCATGGCATAGTCC	0.582			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													90.0	85.0	87.0					11																	3697451		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5341A>G	11.37:g.3697451T>C	ENSP00000316032:p.Met1781Val		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.23|10.23	1.292001|1.292001	0.23564|0.23564	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000429801|ENST00000324932;ENST00000355260	.|.	.|.	.|.	5.66|5.66	3.34|3.34	0.38264|0.38264	.|.	.|0.552996	.|0.15320	.|N	.|0.268582	T|T	0.30070|0.30070	0.0753|0.0753	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.09022	.|0.002;0.002;0.002	.|B;B;B	.|0.08055	.|0.003;0.003;0.003	T|T	0.07233|0.07233	-1.0783|-1.0783	5|9	.|0.33940	.|T	.|0.23	-2.3861|-2.3861	3.5967|3.5967	0.08009|0.08009	0.6027:0.0:0.235:0.1623|0.6027:0.0:0.235:0.1623	.|.	.|1707;1781;1695	.|P52948-2;P52948-5;P52948-6	.|.;.;.	R|V	733|1781;1707	.|.	.|ENSP00000316032:M1781V	H|M	-|-	2|1	0|0	NUP98|NUP98	3654027|3654027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.798000|0.798000	0.45092|0.45092	2.376000|2.376000	0.44292|0.44292	0.422000|0.422000	0.26005|0.26005	-0.527000|-0.527000	0.04329|0.04329	CAT|ATG		0.582	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		11	129	11	129
FBXL3	26224	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr13:77581815C>T	ENST00000355619.5	-	5	1076	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418																																																0													110.0	105.0	107.0					13																	77581815		2203	4300	6503	SO:0001583	missense	26224			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.752G>A	13.37:g.77581815C>T	ENSP00000347834:p.Arg251Gln		B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.672518	0.47781	.	.	ENSG00000005812	ENST00000355619;ENST00000417323	T;T	0.52526	0.66;0.67	6.06	6.06	0.98353	.	0.053607	0.64402	D	0.000001	T	0.28797	0.0714	N	0.14661	0.345	0.45607	D	0.998544	P	0.37158	0.585	B	0.21917	0.037	T	0.12915	-1.0529	10	0.13470	T	0.59	-8.7962	20.6208	0.99490	0.0:1.0:0.0:0.0	.	251	Q9UKT7	FBXL3_HUMAN	Q	251;203	ENSP00000347834:R251Q;ENSP00000412183:R203Q	ENSP00000347834:R251Q	R	-	2	0	FBXL3	76479816	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	5.745000	0.68672	2.882000	0.98803	0.655000	0.94253	CGA		0.418	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			23	49	23	49
KIAA1024	23251	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	79749239	79749239	+	Silent	SNP	C	C	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr15:79749239C>T	ENST00000305428.3	+	2	825	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	250						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CATTTGTGGTCCAGTCCTGTG	0.473																																																0													70.0	74.0	73.0					15																	79749239		2196	4293	6489	SO:0001819	synonymous_variant	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.750C>T	15.37:g.79749239C>T			A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																				0.473	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		27	84	27	84
BZRAP1	9256	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	56388978	56388978	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:56388978T>C	ENST00000343736.4	-	18	3198	c.3035A>G	c.(3034-3036)aAc>aGc	p.N1012S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.N952S|BZRAP1_ENST00000355701.3_Missense_Mutation_p.N1012S			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1012	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGACACCGTTGGATGTGCC	0.602																																																0													84.0	73.0	77.0					17																	56388978		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3035A>G	17.37:g.56388978T>C	ENSP00000345824:p.Asn1012Ser		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.850303	0.91277	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.46819	0.86;0.86;0.86	5.38	5.38	0.77491	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.72118	2.19	0.53688	D	0.999973	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.992	T	0.70171	-0.4945	10	0.56958	D	0.05	.	14.8662	0.70419	0.0:0.0:0.0:1.0	.	1012;952;1012	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	S	1012;1012;952	ENSP00000347929:N1012S;ENSP00000345824:N1012S;ENSP00000268893:N952S	ENSP00000268893:N952S	N	-	2	0	BZRAP1	53743977	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	7.965000	0.87945	2.176000	0.68965	0.455000	0.32223	AAC		0.602	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		41	97	41	97
PRX	57716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	40901791	40901791	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:40901791G>A	ENST00000324001.7	-	7	2738	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	823					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A823V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCAGCACCCGCCTCGCCTGG	0.587																																																1	Substitution - Missense(1)	ovary(1)											92.0	82.0	85.0					19																	40901791		2202	4300	6502	SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2468C>T	19.37:g.40901791G>A	ENSP00000326018:p.Ala823Val		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	5.646	0.303864	0.10678	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01192	5.2	5.15	1.49	0.22878	.	0.297914	0.24107	N	0.041497	T	0.00784	0.0026	N	0.17082	0.46	0.09310	N	0.999999	B	0.23316	0.083	B	0.23018	0.043	T	0.49969	-0.8882	10	0.20519	T	0.43	-13.0857	5.0452	0.14480	0.2711:0.1659:0.5629:0.0	.	823	Q9BXM0	PRAX_HUMAN	V	823	ENSP00000326018:A823V	ENSP00000326018:A823V	A	-	2	0	PRX	45593631	0.061000	0.20836	0.784000	0.31847	0.310000	0.27922	0.457000	0.21875	1.165000	0.42670	0.655000	0.94253	GCG		0.587	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		11	115	11	115
SOGA1	140710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	20	35445831	35445831	+	Silent	SNP	G	G	T	rs373774469		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr20:35445831G>T	ENST00000357779.3	-	4	725	c.399C>A	c.(397-399)gcC>gcA	p.A133A	SOGA1_ENST00000456801.2_5'Flank|SOGA1_ENST00000279034.6_Silent_p.A133A|SOGA1_ENST00000237536.4_Silent_p.A371A			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	133					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCTTCTTATCGGCCTTCCCCA	0.458																																																0													38.0	38.0	38.0					20																	35445831		1818	4070	5888	SO:0001819	synonymous_variant	140710			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.399C>A	20.37:g.35445831G>T			A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37																																																																																					0.458	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		8	6	8	6
ZC3H6	376940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	113089666	113089666	+	Silent	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:113089666A>G	ENST00000409871.1	+	12	3572	c.3171A>G	c.(3169-3171)tcA>tcG	p.S1057S	AC115115.2_ENST00000607612.1_RNA|ZC3H6_ENST00000343936.4_Silent_p.S1057S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1057							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACGGTTCATCATCCACATCAG	0.443																																																0													65.0	58.0	60.0					2																	113089666		1903	4127	6030	SO:0001819	synonymous_variant	376940			AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.3171A>G	2.37:g.113089666A>G			A9JR71|Q6ZW96	Silent	SNP	ENST00000409871.1	37	CCDS46393.1																																																																																				0.443	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1	NM_198581		16	25	16	25
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	179410161	179410161	+	Silent	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:179410161A>G	ENST00000591111.1	-	294	90977	c.90753T>C	c.(90751-90753)agT>agC	p.S30251S	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S23019S|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Silent_p.S31892S|TTN_ENST00000342992.6_Silent_p.S29324S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S22952S|TTN_ENST00000460472.2_Silent_p.S22827S|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30251	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCTGGGCTCACTGTTACCAG	0.468																																																0													143.0	145.0	144.0					2																	179410161		2014	4177	6191	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90753T>C	2.37:g.179410161A>G			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		51	92	51	92
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			17	59	17	59
BOD1L1	259282	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	13603085	13603085	+	Silent	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr4:13603085G>A	ENST00000040738.5	-	10	5574	c.5439C>T	c.(5437-5439)agC>agT	p.S1813S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1813						nucleus (GO:0005634)	DNA binding (GO:0003677)										CAAAGCCTTCGCTGCTATCTT	0.488																																																0													139.0	147.0	144.0					4																	13603085		2203	4300	6503	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5439C>T	4.37:g.13603085G>A			Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.488	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		24	189	24	189
NMBR	4829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	142397180	142397180	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:142397180T>A	ENST00000258042.1	-	3	918	c.778A>T	c.(778-780)Aca>Tca	p.T260S	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	260					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTTTCCGTGTTTCCATCTGC	0.388																																																0													57.0	50.0	52.0					6																	142397180		2203	4298	6501	SO:0001583	missense	4829				CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.778A>T	6.37:g.142397180T>A	ENSP00000258042:p.Thr260Ser		E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	T	5.675	0.309067	0.10733	.	.	ENSG00000135577	ENST00000258042	T	0.70516	-0.49	5.3	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.088129	0.85682	N	0.000000	T	0.20455	0.0492	N	0.01679	-0.765	0.49687	D	0.999814	B	0.20052	0.041	B	0.31101	0.124	T	0.31138	-0.9954	10	0.02654	T	1	-9.4469	11.7695	0.51949	0.132:0.0:0.0:0.868	.	260	P28336	NMBR_HUMAN	S	260	ENSP00000258042:T260S	ENSP00000258042:T260S	T	-	1	0	NMBR	142438873	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.094000	0.50227	0.929000	0.37192	-0.336000	0.08194	ACA		0.388	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			25	59	25	59
WIPI2	26100	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	5256804	5256804	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:5256804G>A	ENST00000288828.4	+	6	794	c.562G>A	c.(562-564)Gat>Aat	p.D188N	WIPI2_ENST00000401525.3_Missense_Mutation_p.D170N|WIPI2_ENST00000484262.1_Missense_Mutation_p.D129N|WIPI2_ENST00000404704.3_Missense_Mutation_p.D188N|WIPI2_ENST00000382384.2_Missense_Mutation_p.D170N	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	188					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCAGGTCTTCGATACCATTAA	0.527																																																0													171.0	135.0	147.0					7																	5256804		2203	4300	6503	SO:0001583	missense	26100				CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.562G>A	7.37:g.5256804G>A	ENSP00000288828:p.Asp188Asn		B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Missense_Mutation	SNP	ENST00000288828.4	37	CCDS5339.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128242	0.94473	.	.	ENSG00000157954	ENST00000288828;ENST00000401525;ENST00000404704;ENST00000382384;ENST00000484262;ENST00000315176	T;T;T;T;T	0.73363	0.09;0.09;0.09;0.09;-0.74	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.045241	0.85682	D	0.000000	D	0.87513	0.6196	M	0.82132	2.575	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.917;1.0;0.999;0.999;0.998	D;P;D;D;D;P	0.97110	1.0;0.565;1.0;0.923;0.923;0.84	D	0.86656	0.1901	10	0.46703	T	0.11	-38.1141	20.0114	0.97452	0.0:0.0:1.0:0.0	.	182;129;170;170;188;188	E7EVF6;Q9Y4P8-3;Q9Y4P8-2;Q9Y4P8-4;Q9Y4P8-6;Q9Y4P8	.;.;.;.;.;WIPI2_HUMAN	N	188;170;188;170;129;182	ENSP00000288828:D188N;ENSP00000384945:D170N;ENSP00000385297:D188N;ENSP00000371821:D170N;ENSP00000429654:D129N	ENSP00000288828:D188N	D	+	1	0	WIPI2	5223330	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.476000	0.97823	2.724000	0.93272	0.555000	0.69702	GAT		0.527	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000241669.2	NM_015610		20	45	20	45
COA1	55744	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	43687182	43687182	+	Missense_Mutation	SNP	C	C	T	rs371645573		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:43687182C>T	ENST00000395879.1	-	2	1748	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	COA1_ENST00000310564.6_Missense_Mutation_p.G23S|COA1_ENST00000223336.6_Missense_Mutation_p.G23S|COA1_ENST00000395880.3_Missense_Mutation_p.G23S			Q9GZY4	COA1_HUMAN	cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)	23					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)	cytoplasm (GO:0005737)|integral component of mitochondrial inner membrane (GO:0031305)|mitochondrion (GO:0005739)		p.G23S(1)									TAGAACACACCGTGGAAAAGG	0.493																																																1	Substitution - Missense(1)	prostate(1)											73.0	76.0	75.0					7																	43687182		2203	4300	6503	SO:0001583	missense	55744			AK001665	CCDS5471.1	7p13	2012-12-05	2012-10-15	2012-06-25	ENSG00000106603	ENSG00000106603		"""Mitochondrial respiratory chain complex assembly factors"""	21868	protein-coding gene	gene with protein product		614769	"""chromosome 7 open reading frame 44"""	C7orf44		22356826	Standard	NM_018224		Approved	FLJ10803, MITRAC15	uc003tin.2	Q9GZY4	OTTHUMG00000128949	ENST00000395879.1:c.67G>A	7.37:g.43687182C>T	ENSP00000379218:p.Gly23Ser		A6NJU8|A8KAH8|Q9HAB7|Q9NVD2	Missense_Mutation	SNP	ENST00000395879.1	37	CCDS5471.1	.	.	.	.	.	.	.	.	.	.	T	1.467	-0.560970	0.03939	.	.	ENSG00000106603	ENST00000395879;ENST00000310564;ENST00000395880;ENST00000223336;ENST00000415798;ENST00000431651	T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43	4.87	-6.87	0.01671	.	1.318910	0.04939	N	0.458307	T	0.13286	0.0322	N	0.04959	-0.14	0.09310	N	1	B	0.24043	0.096	B	0.15052	0.012	T	0.28586	-1.0039	10	0.18276	T	0.48	-11.6053	11.481	0.50326	0.0957:0.5761:0.0:0.3281	.	23	Q9GZY4	CG044_HUMAN	S	23	ENSP00000379218:G23S;ENSP00000312100:G23S;ENSP00000379219:G23S;ENSP00000223336:G23S;ENSP00000405582:G23S;ENSP00000417046:G23S	ENSP00000223336:G23S	G	-	1	0	C7orf44	43653707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.240000	0.02914	-2.495000	0.00514	-3.352000	0.00042	GGT		0.493	COA1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313664.1	NM_018224		37	79	37	79
CROT	54677	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	87005181	87005181	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:87005181T>C	ENST00000331536.3	+	9	973	c.788T>C	c.(787-789)tTg>tCg	p.L263S	CROT_ENST00000419147.2_Missense_Mutation_p.L291S|CROT_ENST00000442291.1_Missense_Mutation_p.L263S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	263					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCAGAGAACTTGGCTTTGTTA	0.368																																																0													84.0	83.0	83.0					7																	87005181		2203	4300	6503	SO:0001583	missense	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.788T>C	7.37:g.87005181T>C	ENSP00000331981:p.Leu263Ser		A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	T	0.344	-0.948888	0.02304	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.88509	-2.39;-2.39;-2.39	5.48	5.48	0.80851	.	0.469748	0.23303	N	0.049644	D	0.82829	0.5122	L	0.46157	1.445	0.28044	N	0.933617	B;B	0.31290	0.097;0.318	B;B	0.24006	0.05;0.034	T	0.74503	-0.3644	10	0.27785	T	0.31	-6.4414	10.2563	0.43399	0.0:0.0742:0.0:0.9258	.	291;263	E7EQF2;Q9UKG9	.;OCTC_HUMAN	S	291;263;263	ENSP00000413575:L291S;ENSP00000331981:L263S;ENSP00000411983:L263S	ENSP00000331981:L263S	L	+	2	0	CROT	86843117	0.998000	0.40836	0.912000	0.35992	0.050000	0.14768	3.054000	0.49908	2.197000	0.70478	0.533000	0.62120	TTG		0.368	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		11	40	11	40
FOXP2	93986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	114294061	114294061	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:114294061A>T	ENST00000393494.2	+	10	1542	c.1263A>T	c.(1261-1263)aaA>aaT	p.K421N	FOXP2_ENST00000393500.3_Missense_Mutation_p.K346N|MIR3666_ENST00000607845.1_RNA|FOXP2_ENST00000403559.4_Missense_Mutation_p.K438N|FOXP2_ENST00000350908.4_Missense_Mutation_p.K421N|FOXP2_ENST00000408937.3_Missense_Mutation_p.K446N|FOXP2_ENST00000393489.3_Missense_Mutation_p.K329N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K400N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K329N|FOXP2_ENST00000360232.4_Missense_Mutation_p.K421N|FOXP2_ENST00000390668.3_Missense_Mutation_p.K445N			O15409	FOXP2_HUMAN	forkhead box P2	421					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CATCTCCCAAACCtgtaagtg	0.393																																																0													164.0	151.0	156.0					7																	114294061		2203	4300	6503	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1263A>T	7.37:g.114294061A>T	ENSP00000377132:p.Lys421Asn		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	A	18.25	3.583102	0.65992	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000360232;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T	0.65732	-0.17;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.64778	0.2629	L	0.34521	1.04	0.80722	D	1	P;P;B;D;D;P;D	0.61697	0.948;0.948;0.237;0.969;0.99;0.948;0.969	P;P;B;P;P;P;P	0.53313	0.533;0.533;0.143;0.634;0.723;0.533;0.723	T	0.66563	-0.5892	10	0.54805	T	0.06	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	420;438;329;421;445;421;446	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	N	346;421;446;438;421;398;329;421;445;329	ENSP00000377137:K346N;ENSP00000377132:K421N;ENSP00000386200:K446N;ENSP00000385069:K438N;ENSP00000265436:K421N;ENSP00000377129:K329N;ENSP00000353367:K421N;ENSP00000375084:K445N;ENSP00000377130:K329N	ENSP00000265436:K421N	K	+	3	2	FOXP2	114081297	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.576000	0.82467	2.367000	0.80283	0.528000	0.53228	AAA		0.393	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		31	85	31	85
KEL	3792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	142638440	142638440	+	Nonsense_Mutation	SNP	G	G	A	rs565926203		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:142638440G>A	ENST00000355265.2	-	19	2572	c.2098C>T	c.(2098-2100)Cga>Tga	p.R700*		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	700					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCGTGGACTCGGAGGTGTGGA	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17138	0.0		0.0	False		,,,				2504	0.0															0													101.0	106.0	104.0					7																	142638440		2203	4300	6503	SO:0001587	stop_gained	3792			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.2098C>T	7.37:g.142638440G>A	ENSP00000347409:p.Arg700*		B2RBV4|Q96RS8|Q99885	Nonsense_Mutation	SNP	ENST00000355265.2	37	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	g	40	7.946756	0.98577	.	.	ENSG00000197993	ENST00000355265	.	.	.	4.77	4.77	0.60923	.	0.000000	0.46442	D	0.000282	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0291	13.1516	0.59492	0.0:0.0:1.0:0.0	.	.	.	.	X	700	.	ENSP00000347409:R700X	R	-	1	2	KEL	142348562	0.907000	0.30839	0.770000	0.31555	0.154000	0.21943	5.129000	0.64739	2.475000	0.83589	0.651000	0.88453	CGA		0.622	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		60	145	60	145
BARX1	56033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	96714489	96714489	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr9:96714489G>A	ENST00000253968.6	-	4	947	c.722C>T	c.(721-723)gCg>gTg	p.A241V	BARX1_ENST00000401724.1_Missense_Mutation_p.A87V	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	241					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|digestive system development (GO:0055123)|epithelial cell differentiation (GO:0030855)|negative regulation of Wnt signaling pathway (GO:0030178)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)	1						CGGCACCTCCGCCGGTTTCTC	0.682																																																0													31.0	29.0	29.0					9																	96714489		2203	4300	6503	SO:0001583	missense	56033				CCDS35070.2	9q22.32	2011-06-20	2007-07-09		ENSG00000131668	ENSG00000131668		"""Homeoboxes / ANTP class : NKL subclass"""	955	protein-coding gene	gene with protein product		603260	"""BarH-like homeobox 1"""				Standard	NM_021570		Approved		uc010mrh.3	Q9HBU1	OTTHUMG00000020255	ENST00000253968.6:c.722C>T	9.37:g.96714489G>A	ENSP00000253968:p.Ala241Val		Q6P2R4|Q96GH8	Missense_Mutation	SNP	ENST00000253968.6	37	CCDS35070.2	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772949	0.31411	.	.	ENSG00000131668	ENST00000253968;ENST00000401724	D;D	0.96365	-3.05;-3.99	5.67	4.78	0.61160	.	0.450566	0.24027	N	0.042238	D	0.88020	0.6325	N	0.08118	0	0.32023	N	0.600566	P	0.39404	0.672	B	0.23018	0.043	D	0.88281	0.2936	10	0.31617	T	0.26	.	13.7572	0.62943	0.0735:0.0:0.9265:0.0	.	241	Q9HBU1	BARX1_HUMAN	V	241;87	ENSP00000253968:A241V;ENSP00000385613:A87V	ENSP00000253968:A241V	A	-	2	0	BARX1	95754310	0.013000	0.17824	0.936000	0.37596	0.053000	0.15095	0.892000	0.28322	1.409000	0.46915	0.561000	0.74099	GCG		0.682	BARX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053164.4			19	34	19	34
MAGEB1	4112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	30269583	30269583	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:30269583C>T	ENST00000378981.3	+	4	1294	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325C|MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325								p.R325C(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TAGAGCCAGGCGTCGCACTAC	0.527																																																1	Substitution - Missense(1)	large_intestine(1)											89.0	78.0	82.0					X																	30269583		2202	4300	6502	SO:0001583	missense	4112				CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.973C>T	X.37:g.30269583C>T	ENSP00000368264:p.Arg325Cys		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	C	9.704	1.155363	0.21454	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.01613	4.73;4.73;4.73	3.55	-1.44	0.08856	.	2.591500	0.02042	N	0.049376	T	0.01800	0.0057	L	0.40543	1.245	0.09310	N	1	D	0.53151	0.958	B	0.35182	0.197	T	0.47724	-0.9095	10	0.54805	T	0.06	.	5.491	0.16777	0.0:0.3987:0.2058:0.3955	.	325	P43366	MAGB1_HUMAN	C	325	ENSP00000368264:R325C;ENSP00000380683:R325C;ENSP00000380681:R325C	ENSP00000368264:R325C	R	+	1	0	MAGEB1	30179504	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.869000	0.01643	-0.535000	0.06307	-0.322000	0.08575	CGT		0.527	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		43	93	43	93
KIF4A	24137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	69615591	69615591	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:69615591T>G	ENST00000374403.3	+	21	2385	c.2303T>G	c.(2302-2304)cTt>cGt	p.L768R	RNY4P23_ENST00000364507.1_RNA|KIF4A_ENST00000374388.3_Missense_Mutation_p.L768R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	768	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AATGACCTCCTTGAAGATAGA	0.438																																																0													73.0	65.0	68.0					X																	69615591		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2303T>G	X.37:g.69615591T>G	ENSP00000363524:p.Leu768Arg		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	t	22.1	4.251002	0.80135	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.70986	-0.53;-0.5	5.3	5.3	0.74995	.	0.115243	0.39341	N	0.001393	T	0.79930	0.4531	L	0.50333	1.59	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81728	-0.0800	10	0.72032	D	0.01	.	13.4384	0.61096	0.0:0.0:0.0:1.0	.	768	O95239	KIF4A_HUMAN	R	768;768;70	ENSP00000363509:L768R;ENSP00000363524:L768R	ENSP00000363509:L768R	L	+	2	0	KIF4A	69532316	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.174000	0.77620	1.968000	0.57251	0.478000	0.44815	CTT		0.438	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		41	57	41	57
BRWD3	254065	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	79942476	79942476	+	Silent	SNP	A	A	G			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:79942476A>G	ENST00000373275.4	-	35	4107	c.3891T>C	c.(3889-3891)tcT>tcC	p.S1297S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1297					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACACTTTAAAGACTGTCTTC	0.383																																																0													129.0	112.0	118.0					X																	79942476		2203	4300	6503	SO:0001819	synonymous_variant	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.3891T>C	X.37:g.79942476A>G			C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	CCDS14447.1																																																																																				0.383	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		14	43	14	43
TENM1	10178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	123519691	123519691	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:123519691G>C	ENST00000371130.3	-	28	5954	c.5891C>G	c.(5890-5892)aCa>aGa	p.T1964R	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.T1971R	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1964					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCTGCGCCCTGTCCCCAGATG	0.483																																																0													175.0	146.0	156.0					X																	123519691		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5891C>G	X.37:g.123519691G>C	ENSP00000360171:p.Thr1964Arg		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171469	0.78452	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86164	-2.08;-2.05	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.91851	0.7421	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.941;0.958	D	0.91610	0.5302	10	0.49607	T	0.09	.	18.8683	0.92301	0.0:0.0:1.0:0.0	.	1970;1971;1964	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	R	1964;1971	ENSP00000360171:T1964R;ENSP00000403954:T1971R	ENSP00000360171:T1964R	T	-	2	0	ODZ1	123347372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.956000	0.87863	2.403000	0.81681	0.594000	0.82650	ACA		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		63	119	63	119
ZNF551	90233	broad.mit.edu;ucsc.edu	37	19	58197953	58197953	+	Missense_Mutation	SNP	A	A	G	rs201814536		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:58197953A>G	ENST00000282296.5	+	3	495	c.310A>G	c.(310-312)Agt>Ggt	p.S104G	AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.S88G|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACTCACCTCAGTGAGATTAA	0.478																																																0													124.0	120.0	122.0					19																	58197953		2203	4300	6503	SO:0001583	missense	90233			BX538151	CCDS12959.1, CCDS12959.2	19q13.43	2013-09-20			ENSG00000204519	ENSG00000204519		"""Zinc fingers, C2H2-type"", ""-"""	25108	protein-coding gene	gene with protein product							Standard	NM_138347		Approved	DKFZp686H1038	uc002qpw.5	Q7Z340	OTTHUMG00000183470	ENST00000282296.5:c.310A>G	19.37:g.58197953A>G	ENSP00000282296:p.Ser104Gly		B4DU22|P17034|Q8N246|Q9BRY1	Missense_Mutation	SNP	ENST00000282296.5	37	CCDS12959.2	.	.	.	.	.	.	.	.	.	.	A	7.916	0.737574	0.15574	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.08	-1.66	0.08265	.	.	.	.	.	T	0.15478	0.0373	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20338	-1.0278	8	0.27082	T	0.32	.	2.3828	0.04358	0.4261:0.1576:0.0:0.4163	.	104	Q7Z340	ZN551_HUMAN	G	104;88	.	ENSP00000282296:S88G	S	+	1	0	ZNF551	62889765	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.726000	0.04936	-0.579000	0.05952	-0.531000	0.04308	AGT		0.478	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466803.2	NM_138347		64	53	64	53
CLDN11	5010	broad.mit.edu;ucsc.edu	37	3	170141061	170141061	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr3:170141061G>A	ENST00000064724.3	+	2	539	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	CLDN11_ENST00000486975.1_Missense_Mutation_p.G113S|CLDN11_ENST00000451576.1_Missense_Mutation_p.G113S|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	113					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCAGGAGCCCGGTGTGGCTAA	0.602																																																0													86.0	82.0	84.0					3																	170141061		2203	4300	6503	SO:0001583	missense	5010			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"""Claudins"""	8514	protein-coding gene	gene with protein product		601326	"""oligodendrocyte transmembrane protein"""	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.337G>A	3.37:g.170141061G>A	ENSP00000064724:p.Gly113Ser		B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	ENST00000064724.3	37	CCDS3213.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871874	0.51695	.	.	ENSG00000013297	ENST00000064724;ENST00000486975;ENST00000451576	D;D;D	0.88201	-2.35;-2.35;-2.35	5.81	5.81	0.92471	.	0.105804	0.64402	D	0.000004	D	0.85932	0.5812	N	0.05414	-0.055	0.45161	D	0.998174	D;B	0.67145	0.996;0.155	P;B	0.57679	0.825;0.041	T	0.82723	-0.0316	10	0.11794	T	0.64	.	20.089	0.97809	0.0:0.0:1.0:0.0	.	113;113	B4DFI2;O75508	.;CLD11_HUMAN	S	113	ENSP00000064724:G113S;ENSP00000417434:G113S;ENSP00000410185:G113S	ENSP00000064724:G113S	G	+	1	0	CLDN11	171623755	1.000000	0.71417	0.986000	0.45419	0.885000	0.51271	3.384000	0.52478	2.752000	0.94435	0.557000	0.71058	GGT		0.602	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352403.1	NM_005602		54	116	54	116
KIAA1429	25962	broad.mit.edu;hgsc.bcm.edu	37	8	95541443	95541445	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr8:95541443_95541445delTTG	ENST00000297591.5	-	7	808_810	c.733_735delCAA	c.(733-735)caadel	p.Q245del	KIAA1429_ENST00000421249.2_In_Frame_Del_p.Q245del|KIAA1429_ENST00000437199.1_In_Frame_Del_p.Q245del	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	245	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ctccttcttcttgttgttcctct	0.438																																																0																																										SO:0001651	inframe_deletion	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.733_735delCAA	8.37:g.95541446_95541448delTTG	ENSP00000297591:p.Gln245del		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	In_Frame_Del	DEL	ENST00000297591.5	37	CCDS34923.1																																																																																				0.438	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		10	28	10	28
MPRIP	23164	broad.mit.edu;hgsc.bcm.edu	37	17	17046885	17046886	+	Frame_Shift_Ins	INS	-	-	C			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:17046885_17046886insC	ENST00000341712.4	+	9	1051_1052	c.1051_1052insC	c.(1051-1053)gccfs	p.A351fs	MPRIP_ENST00000395811.5_Frame_Shift_Ins_p.A351fs|MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000395804.3_Frame_Shift_Ins_p.A351fs			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin. {ECO:0000250}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACCAATGAAGCCCCCCCAGCT	0.649																																																0																																										SO:0001589	frameshift_variant	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1058dupC	17.37:g.17046892_17046892dupC	ENSP00000342379:p.Ala351fs		Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Frame_Shift_Ins	INS	ENST00000341712.4	37	CCDS32578.1																																																																																				0.649	MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134		18	51	18	51
