#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_BAM_File	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ABCA13	154664	broad.mit.edu;ucsc.edu	37	7	48411895	48411895	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr7:48411895G>A	ENST00000435803.1	+	33	10958	c.10934G>A	c.(10933-10935)aGc>aAc	p.S3645N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3645					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S3590N(1)|p.S3645N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGCACACAGCAATACCTTT	0.458																																																	2	Substitution - Missense(2)	kidney(2)											278.0	273.0	274.0					7																	48411895		2050	4208	6258	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10934G>A	7.37:g.48411895G>A	ENSP00000411096:p.Ser3645Asn	Somatic		WXS	Illumina GAIIx	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449660	0.84101	.	.	ENSG00000179869	ENST00000435803	D	0.94966	-3.57	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000008	D	0.97958	0.9328	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98346	1.0541	10	0.87932	D	0	.	19.335	0.94312	0.0:0.0:1.0:0.0	.	1347;3645	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	N	3645	ENSP00000411096:S3645N	ENSP00000411096:S3645N	S	+	2	0	ABCA13	48382441	1.000000	0.71417	0.973000	0.42090	0.635000	0.38103	6.595000	0.74109	2.884000	0.98904	0.655000	0.94253	AGC		0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
ACAN	176	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	89386810	89386810	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr15:89386810G>A	ENST00000561243.1	+	5	982	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	ACAN_ENST00000558207.1_Missense_Mutation_p.V328I|ACAN_ENST00000352105.7_Missense_Mutation_p.V328I|ACAN_ENST00000439576.2_Missense_Mutation_p.V328I|ACAN_ENST00000559004.1_Missense_Mutation_p.V328I			P16112	PGCA_HUMAN	aggrecan	328	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.V328I(4)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGTGAGGACCGTCTACGTGCA	0.682																																																	4	Substitution - Missense(4)	lung(2)|kidney(2)											41.0	46.0	44.0					15																	89386810		2069	4192	6261	SO:0001583	missense	176			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.982G>A	15.37:g.89386810G>A	ENSP00000453342:p.Val328Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024285	0.75390	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.08720	3.06;3.06	5.56	5.56	0.83823	.	0.000000	0.30020	N	0.010616	T	0.27731	0.0682	M	0.62088	1.915	0.41044	D	0.985256	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.75020	0.985;0.985;0.929	T	0.00180	-1.1948	10	0.45353	T	0.12	-27.4465	18.5257	0.90971	0.0:0.0:1.0:0.0	.	328;328;328	E7ENV9;E7EX88;Q6PID9	.;.;.	I	328	ENSP00000387356:V328I;ENSP00000341615:V328I	ENSP00000268134:V328I	V	+	1	0	ACAN	87187814	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.377000	0.66184	2.626000	0.88956	0.650000	0.86243	GTC		0.682	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2		NM_001135	
ARL11	115761	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	50204841	50204841	+	Silent	SNP	C	C	T	rs377295532		TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr13:50204841C>T	ENST00000282026.1	+	2	593	c.258C>T	c.(256-258)taC>taT	p.Y86Y	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	86					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)	p.Y86Y(1)		kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TCCTCGTGTACGTGCTGGACA	0.617																																																	1	Substitution - coding silent(1)	kidney(1)						C		2,4404	4.2+/-10.8	0,2,2201	85.0	83.0	84.0		258	-7.6	0.4	13		84	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARL11	NM_138450.5		0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231		86/197	50204841	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	115761			AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.258C>T	13.37:g.50204841C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000282026.1	37	CCDS9419.1																																																																																				0.617	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2		NM_138450	
PHF7	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52443892	52443892	+	5'Flank	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr3:52443892C>T	ENST00000327906.3	+	0	0				PHF7_ENST00000347025.2_5'Flank|BAP1_ENST00000460680.1_Start_Codon_SNP_p.M1I|BAP1_ENST00000296288.5_Start_Codon_SNP_p.M1I	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.M1I(2)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		AGCCCTTATTCATCTTCCCGC	0.766																																																	2	Substitution - Missense(2)	kidney(2)											25.0	31.0	29.0					3																	52443892		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52443892C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044029	0.93685	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.41758	0.99;0.99	5.06	5.06	0.68205	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (2);	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	.	.	.	0.80722	D	1	P	0.34699	0.464	B	0.37692	0.256	T	0.47898	-0.9081	9	0.72032	D	0.01	-3.8616	16.2289	0.82318	0.0:1.0:0.0:0.0	.	1	Q92560	BAP1_HUMAN	I	1	ENSP00000417132:M1I;ENSP00000296288:M1I	ENSP00000296288:M1I	M	-	3	0	BAP1	52418932	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.256000	0.72473	2.359000	0.80004	0.655000	0.94253	ATG		0.766	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
CCDC88B	283234	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64108611	64108611	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr11:64108611C>T	ENST00000356786.5	+	4	393	c.349C>T	c.(349-351)Ccc>Tcc	p.P117S	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	117						membrane (GO:0016020)		p.P117S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGTCGCCACCCCCAGACCT	0.647																																																	1	Substitution - Missense(1)	kidney(1)											87.0	81.0	83.0					11																	64108611		2201	4297	6498	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.349C>T	11.37:g.64108611C>T	ENSP00000349238:p.Pro117Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	.	11.75	1.731187	0.30684	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.41065	1.01	3.95	3.03	0.35002	.	.	.	.	.	T	0.23846	0.0577	N	0.12746	0.255	0.80722	D	1	B;B	0.14805	0.011;0.011	B;B	0.15484	0.013;0.013	T	0.06463	-1.0825	9	0.62326	D	0.03	.	7.8099	0.29226	0.0:0.8837:0.0:0.1163	.	117;117	B2RTU8;A6NC98	.;CC88B_HUMAN	S	117	ENSP00000349238:P117S	ENSP00000349238:P117S	P	+	1	0	CCDC88B	63865187	0.990000	0.36364	0.998000	0.56505	0.824000	0.46624	2.057000	0.41365	1.029000	0.39812	0.485000	0.47835	CCC		0.647	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1		NM_032251	
CHRD	8646	broad.mit.edu;ucsc.edu	37	3	184103856	184103856	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr3:184103856T>G	ENST00000204604.1	+	15	2087	c.1841T>G	c.(1840-1842)cTg>cGg	p.L614R	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.L614R|CHRD_ENST00000545352.1_Missense_Mutation_p.L244R|CHRD_ENST00000348986.3_Missense_Mutation_p.L574R	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	614	CHRD 4. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.L327R(1)|p.L614R(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGAAGGACCTGGAGCCGGAA	0.587																																																	2	Substitution - Missense(2)	kidney(2)											95.0	97.0	97.0					3																	184103856		2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1841T>G	3.37:g.184103856T>G	ENSP00000204604:p.Leu614Arg	Somatic		WXS	Illumina GAIIx	Phase_I	O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.181966	0.78677	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352;ENST00000342610	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.51	4.51	0.55191	CHRD (3);	0.073207	0.53938	D	0.000047	T	0.72455	0.3462	M	0.80616	2.505	0.45272	D	0.998279	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.995;0.996;0.998;0.997	T	0.77156	-0.2691	10	0.87932	D	0	-13.0207	13.0012	0.58676	0.0:0.0:0.0:1.0	.	244;574;614;614	B7Z6F4;Q9H2X0-5;E7ESX1;Q9H2X0	.;.;.;CHRD_HUMAN	R	614;614;574;244;327	ENSP00000204604:L614R;ENSP00000408972:L614R;ENSP00000334036:L574R;ENSP00000442948:L244R	ENSP00000204604:L614R	L	+	2	0	CHRD	185586550	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.133000	0.77259	1.823000	0.53134	0.533000	0.62120	CTG		0.587	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1		NM_003741	
CLASP1	23332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	122273322	122273322	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr2:122273322A>G	ENST00000263710.4	-	7	952	c.563T>C	c.(562-564)aTa>aCa	p.I188T	CLASP1_ENST00000397587.3_Missense_Mutation_p.I188T|CLASP1_ENST00000409078.3_Missense_Mutation_p.I188T|CLASP1_ENST00000541377.1_Missense_Mutation_p.I188T|CLASP1_ENST00000455322.2_Missense_Mutation_p.I188T	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	188					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.I188T(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TAAGCTGTTTATTGCTGCATC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											122.0	112.0	115.0					2																	122273322		1916	4126	6042	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.563T>C	2.37:g.122273322A>G	ENSP00000263710:p.Ile188Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	A	17.30	3.355815	0.61293	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000409078	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	5.51	5.51	0.81932	Armadillo-like helical (1);Armadillo-type fold (1);	0.156965	0.56097	D	0.000036	T	0.29914	0.0748	N	0.16656	0.425	0.80722	D	1	P;B;P;P	0.40731	0.491;0.435;0.642;0.728	B;B;B;B	0.37731	0.138;0.085;0.138;0.257	T	0.19811	-1.0294	10	0.66056	D	0.02	-12.9134	14.8943	0.70633	1.0:0.0:0.0:0.0	.	188;188;188;188	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	T	188	ENSP00000263710:I188T;ENSP00000389372:I188T;ENSP00000380717:I188T;ENSP00000441625:I188T;ENSP00000386442:I188T	ENSP00000263710:I188T	I	-	2	0	CLASP1	121989792	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.898000	0.87363	2.210000	0.71456	0.533000	0.62120	ATA		0.463	CLASP1-201	KNOWN	basic	protein_coding	protein_coding			NM_015282	
CMIP	80790	broad.mit.edu	37	16	81712128	81712128	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr16:81712128T>C	ENST00000537098.3	+	10	1355	c.1283T>C	c.(1282-1284)cTc>cCc	p.L428P	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.L275P|CMIP_ENST00000539778.2_Missense_Mutation_p.L334P	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	428						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L333P(1)|p.L428P(1)		endometrium(5)|kidney(1)|lung(7)	13						GAGCCCAACCTCATCGACTGC	0.667																																																	2	Substitution - Missense(2)	kidney(2)											10.0	12.0	11.0					16																	81712128		2127	4217	6344	SO:0001583	missense	80790			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.1283T>C	16.37:g.81712128T>C	ENSP00000446100:p.Leu428Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q9C0G9	Missense_Mutation	SNP	ENST00000537098.3	37	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277730	0.80692	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040;ENST00000542097	T;T;T	0.11169	2.8;2.8;3.02	4.92	4.92	0.64577	.	0.071575	0.56097	D	0.000021	T	0.20414	0.0491	N	0.24115	0.695	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.78314	0.991;0.991;0.986	T	0.03130	-1.1069	10	0.87932	D	0	.	14.553	0.68081	0.0:0.0:0.0:1.0	.	275;334;428	Q8IY22-3;Q8IY22-2;Q8IY22	.;.;CMIP_HUMAN	P	428;334;334;241	ENSP00000446100:L428P;ENSP00000440401:L334P;ENSP00000381120:L334P	ENSP00000381120:L334P	L	+	2	0	CMIP	80269629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.303000	0.78871	1.860000	0.53959	0.459000	0.35465	CTC		0.667	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2		NM_030629	
DBH	1621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136505100	136505100	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr9:136505100G>A	ENST00000393056.2	+	2	484	c.472G>A	c.(472-474)Gat>Aat	p.D158N		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	158	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)	p.D158N(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CGACCCCAAGGATTACCTCAT	0.592																																																	1	Substitution - Missense(1)	kidney(1)											51.0	46.0	48.0					9																	136505100		2203	4300	6503	SO:0001583	missense	1621			X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.472G>A	9.37:g.136505100G>A	ENSP00000376776:p.Asp158Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	29.6	5.020337	0.93462	.	.	ENSG00000123454	ENST00000393056	D	0.82433	-1.61	4.89	4.89	0.63831	DOMON domain (3);	0.000000	0.85682	D	0.000000	D	0.92938	0.7753	M	0.92122	3.275	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	D	0.94688	0.7871	10	0.72032	D	0.01	-14.1206	17.6356	0.88121	0.0:0.0:1.0:0.0	.	158	P09172	DOPO_HUMAN	N	158	ENSP00000376776:D158N	ENSP00000376776:D158N	D	+	1	0	DBH	135494921	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	9.196000	0.94978	2.246000	0.74042	0.561000	0.74099	GAT		0.592	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2		NM_000787	
ECSIT	51295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11618611	11618611	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr19:11618611G>T	ENST00000270517.7	-	6	986	c.851C>A	c.(850-852)cCt>cAt	p.P284H	ECSIT_ENST00000591104.1_Intron|ECSIT_ENST00000591352.1_5'UTR|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000417981.2_Missense_Mutation_p.P70H|ECSIT_ENST00000252440.7_Intron|CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000592312.1_Missense_Mutation_p.L215M|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000588998.1_Intron	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	284					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P284H(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AACAAAGACAGGCCGGGCTGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											40.0	41.0	41.0					19																	11618611		2203	4300	6503	SO:0001583	missense	51295			BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.851C>A	19.37:g.11618611G>T	ENSP00000270517:p.Pro284His	Somatic		WXS	Illumina HiSeq	Phase_I	E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143322	0.57044	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	T;T	0.50548	0.74;0.74	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.70806	0.3266	M	0.80982	2.52	0.35482	D	0.798243	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81424	-0.0939	10	0.87932	D	0	-10.259	16.7205	0.85409	0.0:0.0:1.0:0.0	.	70;284	E9PAN9;Q9BQ95	.;ECSIT_HUMAN	H	284;70	ENSP00000270517:P284H;ENSP00000412712:P70H	ENSP00000270517:P284H	P	-	2	0	ECSIT	11479611	1.000000	0.71417	0.775000	0.31657	0.043000	0.13939	9.129000	0.94430	2.216000	0.71823	0.491000	0.48974	CCT		0.627	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2		NM_016581	
ERCC1	2067	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45923622	45923622	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr19:45923622C>T	ENST00000300853.3	-	4	976	c.385G>A	c.(385-387)Gac>Aac	p.D129N	ERCC1_ENST00000423698.2_Missense_Mutation_p.D57N|ERCC1_ENST00000589165.1_Missense_Mutation_p.D129N|ERCC1_ENST00000340192.7_Missense_Mutation_p.D129N|ERCC1_ENST00000591636.1_Missense_Mutation_p.D129N|ERCC1_ENST00000013807.5_Missense_Mutation_p.D129N	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	129					cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)	p.D129N(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AGCACATAGTCGGGAATTACG	0.617								Nucleotide excision repair (NER)																																									2	Substitution - Missense(2)	kidney(2)											103.0	79.0	87.0					19																	45923622		2203	4300	6503	SO:0001583	missense	2067				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.385G>A	19.37:g.45923622C>T	ENSP00000300853:p.Asp129Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RC01|B3KRR0|Q7Z7F5|Q96S40	Missense_Mutation	SNP	ENST00000300853.3	37	CCDS12662.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014325	0.93404	.	.	ENSG00000012061	ENST00000300853;ENST00000340192;ENST00000423698;ENST00000013807	D;D;T;D	0.90676	-2.48;-2.71;-0.93;-2.71	5.28	5.28	0.74379	Restriction endonuclease, type II-like (1);	0.000000	0.85682	D	0.000000	D	0.96343	0.8807	H	0.94462	3.54	0.80722	D	1	D;D;D;D	0.89917	1.0;0.995;0.998;0.999	D;P;D;P	0.69479	0.964;0.752;0.916;0.892	D	0.97131	0.9818	10	0.72032	D	0.01	-21.144	14.4	0.67037	0.0:1.0:0.0:0.0	.	129;57;129;129	Q7Z7F5;B3KRR0;Q96S40;P07992	.;.;.;ERCC1_HUMAN	N	129;129;57;129	ENSP00000300853:D129N;ENSP00000345203:D129N;ENSP00000394875:D57N;ENSP00000013807:D129N	ENSP00000013807:D129N	D	-	1	0	ERCC1	50615462	1.000000	0.71417	0.944000	0.38274	0.548000	0.35241	6.491000	0.73649	2.489000	0.83994	0.455000	0.32223	GAC		0.617	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1		NM_001983	
NXPE2	120406	broad.mit.edu;ucsc.edu	37	11	114569272	114569272	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr11:114569272G>A	ENST00000389586.4	+	3	828	c.638G>A	c.(637-639)aGg>aAg	p.R213K	NXPE2_ENST00000375475.5_Missense_Mutation_p.R213K	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	213						integral component of membrane (GO:0016021)		p.R213K(2)									GGATGTGATAGGATCATCTTC	0.517																																																	2	Substitution - Missense(2)	kidney(2)											108.0	106.0	107.0					11																	114569272		692	1591	2283	SO:0001583	missense	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.638G>A	11.37:g.114569272G>A	ENSP00000374237:p.Arg213Lys	Somatic		WXS	Illumina GAIIx	Phase_I	Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	G	2.819	-0.245325	0.05906	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.19669	2.66;2.13	4.55	0.99	0.19807	.	0.372941	0.24176	N	0.040846	T	0.08626	0.0214	N	0.11651	0.15	0.09310	N	1	B	0.12013	0.005	B	0.18871	0.023	T	0.39623	-0.9605	10	0.10636	T	0.68	.	7.4916	0.27464	0.4569:0.0:0.5431:0.0	.	213	Q96DL1	FA55B_HUMAN	K	213	ENSP00000374237:R213K;ENSP00000364624:R213K	ENSP00000364624:R213K	R	+	2	0	FAM55B	114074482	0.008000	0.16893	0.001000	0.08648	0.023000	0.10783	0.287000	0.18920	0.043000	0.15746	-1.094000	0.02160	AGG		0.517	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1		NM_182495	
NXPE2	120406	broad.mit.edu;ucsc.edu	37	11	114569274	114569274	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr11:114569274A>G	ENST00000389586.4	+	3	830	c.640A>G	c.(640-642)Atc>Gtc	p.I214V	NXPE2_ENST00000375475.5_Missense_Mutation_p.I214V	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	214						integral component of membrane (GO:0016021)		p.I214V(2)									ATGTGATAGGATCATCTTCAC	0.517																																																	2	Substitution - Missense(2)	kidney(2)											108.0	107.0	107.0					11																	114569274		692	1591	2283	SO:0001583	missense	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.640A>G	11.37:g.114569274A>G	ENSP00000374237:p.Ile214Val	Somatic		WXS	Illumina GAIIx	Phase_I	Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	A	0.015	-1.553101	0.00918	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.14893	2.93;2.47	4.45	-0.65	0.11457	.	0.556195	0.15835	N	0.242308	T	0.04497	0.0123	N	0.02142	-0.665	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.41945	-0.9480	10	0.02654	T	1	.	8.2676	0.31824	0.5809:0.0:0.4191:0.0	.	214	Q96DL1	FA55B_HUMAN	V	214	ENSP00000374237:I214V;ENSP00000364624:I214V	ENSP00000364624:I214V	I	+	1	0	FAM55B	114074484	0.090000	0.21635	0.000000	0.03702	0.004000	0.04260	0.290000	0.18975	-0.443000	0.07180	-1.039000	0.02377	ATC		0.517	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1		NM_182495	
FAM86DP	692099	broad.mit.edu	37	3	75475719	75475719	+	RNA	SNP	C	C	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr3:75475719C>G	ENST00000459803.1	-	0	810					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.S257S(1)									TCCCGACCAGCGACACGATGG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)																																										0			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475719C>G		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000459803.1	37																																																																																					0.572	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1		NR_024241	
FECH	2235	broad.mit.edu;ucsc.edu	37	18	55221616	55221616	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr18:55221616G>T	ENST00000262093.5	-	9	1104	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	FECH_ENST00000382873.3_Missense_Mutation_p.S324Y	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	318					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)	p.S324Y(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				CCCTTTGATAGATTCGTCTGT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											163.0	146.0	152.0					18																	55221616		2203	4300	6503	SO:0001583	missense	2235			D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.953C>A	18.37:g.55221616G>T	ENSP00000262093:p.Ser318Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165847	0.78339	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.97016	-4.21;-4.21	6.17	5.29	0.74685	.	0.510935	0.24424	N	0.038660	D	0.95787	0.8629	L	0.31578	0.945	0.31705	N	0.640248	D;D	0.65815	0.995;0.994	P;P	0.55508	0.777;0.768	D	0.95888	0.8904	10	0.87932	D	0	-5.5402	17.1601	0.86802	0.0:0.1265:0.8735:0.0	.	318;324	P22830;P22830-2	HEMH_HUMAN;.	Y	318;324	ENSP00000262093:S318Y;ENSP00000372326:S324Y	ENSP00000262093:S318Y	S	-	2	0	FECH	53372614	0.998000	0.40836	0.148000	0.22405	0.905000	0.53344	5.797000	0.69087	1.593000	0.50029	0.655000	0.94253	TCT		0.488	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			
GRIK1	2897	broad.mit.edu;hgsc.bcm.edu	37	21	31023608	31023608	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr21:31023608A>T	ENST00000399907.1	-	6	1195	c.784T>A	c.(784-786)Tta>Ata	p.L262I	GRIK1_ENST00000399914.1_Missense_Mutation_p.L262I|GRIK1_ENST00000309434.7_Missense_Mutation_p.L262I|GRIK1_ENST00000399913.1_Missense_Mutation_p.L262I|GRIK1_ENST00000389124.2_Missense_Mutation_p.L262I|GRIK1_ENST00000535441.1_Missense_Mutation_p.L262I|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000327783.4_Missense_Mutation_p.L262I|GRIK1_ENST00000389125.3_Missense_Mutation_p.L262I|GRIK1_ENST00000399909.1_Missense_Mutation_p.L262I	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	262					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.L262I(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	AAAGCAAATAAGTCCTGCATA	0.353																																																	2	Substitution - Missense(2)	kidney(2)											54.0	47.0	49.0					21																	31023608		2203	4300	6503	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.784T>A	21.37:g.31023608A>T	ENSP00000382791:p.Leu262Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	A	12.93	2.086588	0.36855	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67	4.96	2.59	0.31030	Extracellular ligand-binding receptor (1);	0.072152	0.56097	D	0.000026	D	0.85379	0.5683	M	0.62088	1.915	0.51767	D	0.999937	B;B;B;B;B;B	0.32010	0.291;0.291;0.351;0.291;0.187;0.278	P;P;B;P;P;P	0.49387	0.609;0.609;0.268;0.609;0.486;0.474	T	0.80448	-0.1378	10	0.37606	T	0.19	.	8.7164	0.34414	0.7727:0.0:0.2273:0.0	.	262;262;262;262;262;262	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	I	262;262;262;262;262;206;262;262;262;262	ENSP00000327687:L262I;ENSP00000373777:L262I;ENSP00000382797:L262I;ENSP00000382798:L262I;ENSP00000446326:L262I;ENSP00000373776:L262I;ENSP00000382791:L262I;ENSP00000382793:L262I;ENSP00000311646:L262I	ENSP00000311646:L262I	L	-	1	2	GRIK1	29945479	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	1.789000	0.38724	0.458000	0.26988	-0.899000	0.02877	TTA		0.353	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			
CLUH	23277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2606746	2606746	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr17:2606746A>T	ENST00000570628.2	-	3	332	c.227T>A	c.(226-228)gTg>gAg	p.V76E	CLUH_ENST00000435359.1_Missense_Mutation_p.V76E|CLUH_ENST00000538975.1_Missense_Mutation_p.V76E			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	76					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.V76E(2)									GTCCATGAGCACCTGGTGAAT	0.657																																																	2	Substitution - Missense(2)	kidney(2)											38.0	46.0	43.0					17																	2606746		2132	4222	6354	SO:0001583	missense	0			AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.227T>A	17.37:g.2606746A>T	ENSP00000458986:p.Val76Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.038071	0.93630	.	.	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	D;D	0.81659	-1.52;-1.52	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.87253	0.6131	M	0.73962	2.25	0.80722	D	1	D;D	0.61697	0.97;0.99	P;P	0.59761	0.737;0.863	D	0.88496	0.3079	10	0.59425	D	0.04	.	14.1049	0.65083	1.0:0.0:0.0:0.0	.	76;76	O75153;C9J6D7	K0664_HUMAN;.	E	76	ENSP00000388872:V76E;ENSP00000439628:V76E	ENSP00000320468:V76E	V	-	2	0	KIAA0664	2553496	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.297000	0.96120	1.924000	0.55735	0.459000	0.35465	GTG		0.657	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2		NM_015229	
MFI2	4241	broad.mit.edu	37	3	196733606	196733606	+	Splice_Site	SNP	G	G	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr3:196733606G>T	ENST00000296350.5	-	14	1865	c.1752C>A	c.(1750-1752)ggC>ggA	p.G584G	MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000424769.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	584	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)	p.G584G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CGGAATTGTGGCCTGAGGGGG	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											23.0	22.0	23.0					3																	196733606		2203	4300	6503	SO:0001630	splice_region_variant	4241				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.1751-1C>A	3.37:g.196733606G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q9BQE2	Silent	SNP	ENST00000296350.5	37	CCDS3325.1																																																																																				0.612	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			Silent
MGA	23269	hgsc.bcm.edu;ucsc.edu	37	15	41961876	41961876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr15:41961876delG	ENST00000570161.1	+	1	784	c.784delG	c.(784-786)gggfs	p.G262fs	MGA_ENST00000219905.7_Frame_Shift_Del_p.G262fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.G262fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.G262fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.G262fs|MGA_ENST00000568630.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCGGGATGATGGGCTGAATAA	0.418																																																	0													60.0	57.0	58.0					15																	41961876		1850	4112	5962	SO:0001589	frameshift_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.784delG	15.37:g.41961876delG	ENSP00000457035:p.Gly262fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	CCDS55959.1																																																																																				0.418	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1		NM_001164273.1	
NCDN	23154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36026446	36026446	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr1:36026446G>C	ENST00000373243.2	+	3	1077	c.694G>C	c.(694-696)Gct>Cct	p.A232P	NCDN_ENST00000356090.4_Missense_Mutation_p.A232P|NCDN_ENST00000373253.3_Missense_Mutation_p.A215P	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	232					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.A215P(1)|p.A232P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTCCAGAAAGCTGAGGATGC	0.647																																																	2	Substitution - Missense(2)	kidney(2)											51.0	49.0	50.0					1																	36026446		2203	4300	6503	SO:0001583	missense	23154			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.694G>C	1.37:g.36026446G>C	ENSP00000362340:p.Ala232Pro	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315744	0.60524	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000437806	T;T;T	0.68025	-0.3;-0.3;-0.3	4.85	4.85	0.62838	.	0.058880	0.64402	D	0.000002	T	0.73063	0.3539	L	0.38175	1.15	0.58432	D	0.999997	D	0.65815	0.995	D	0.63703	0.917	T	0.72956	-0.4134	10	0.42905	T	0.14	.	17.1306	0.86725	0.0:0.0:1.0:0.0	.	232	Q9UBB6	NCDN_HUMAN	P	215;232;232;215	ENSP00000362350:A215P;ENSP00000348394:A232P;ENSP00000362340:A232P	ENSP00000348394:A232P	A	+	1	0	NCDN	35799033	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	3.800000	0.55537	2.517000	0.84864	0.462000	0.41574	GCT		0.647	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1		NM_014284	
NIPAL4	348938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156899742	156899742	+	Missense_Mutation	SNP	C	C	T	rs199652326		TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr5:156899742C>T	ENST00000311946.7	+	6	1291	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.S373L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	392						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.S330L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GGCACCCTCTCGGGCTTTGTC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											87.0	83.0	85.0					5																	156899742		2116	4246	6362	SO:0001583	missense	348938			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1175C>T	5.37:g.156899742C>T	ENSP00000311687:p.Ser392Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	ENST00000311946.7	37	CCDS47328.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822062	0.32237	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90197	-2.63;-2.63	5.93	5.93	0.95920	.	0.256467	0.44483	D	0.000450	D	0.85305	0.5666	L	0.38838	1.175	0.43698	D	0.996151	P;P	0.42248	0.733;0.774	B;B	0.35655	0.131;0.207	D	0.85907	0.1438	10	0.48119	T	0.1	-34.9928	14.6991	0.69145	0.0:0.7453:0.2547:0.0	.	373;392	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	L	373;392	ENSP00000406456:S373L;ENSP00000311687:S392L	ENSP00000311687:S392L	S	+	2	0	NIPAL4	156832320	0.998000	0.40836	0.128000	0.21923	0.648000	0.38561	6.635000	0.74295	2.815000	0.96918	0.561000	0.74099	TCG		0.537	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1		NM_001099287	
NONO	4841	broad.mit.edu;hgsc.bcm.edu	37	X	70511743	70511743	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chrX:70511743T>G	ENST00000276079.8	+	4	474	c.269T>G	c.(268-270)aTg>aGg	p.M90R	NONO_ENST00000535149.1_Start_Codon_SNP_p.M1R|NONO_ENST00000373856.3_Missense_Mutation_p.M90R|NONO_ENST00000373841.1_Missense_Mutation_p.M90R	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	90	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.M90R(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GAGGAAGAAATGAGGAAACTA	0.423			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	1	Substitution - Missense(1)	kidney(1)											91.0	87.0	88.0					X																	70511743		2203	4297	6500	SO:0001583	missense	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.269T>G	X.37:g.70511743T>G	ENSP00000276079:p.Met90Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	22.8|22.8	4.340075|4.340075	0.81911|0.81911	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000420903;ENST00000413858;ENST00000454976|ENST00000418921	T;T;T;T;T;T;T|.	0.19394|.	2.15;2.36;2.36;2.36;2.36;2.36;2.36|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.087497|.	0.85682|.	D|.	0.000000|.	T|.	0.60869|.	0.2302|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P|.	0.45531|.	0.86|.	P|.	0.50162|.	0.633|.	T|.	0.58808|.	-0.7571|.	10|.	0.87932|.	D|.	0|.	-10.613|-10.613	13.8804|13.8804	0.63678|0.63678	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	90|.	Q15233|.	NONO_HUMAN|.	R|G	1;90;90;90;90;90;90|9	ENSP00000441364:M1R;ENSP00000276079:M90R;ENSP00000362963:M90R;ENSP00000362947:M90R;ENSP00000410299:M90R;ENSP00000413350:M90R;ENSP00000406673:M90R|.	ENSP00000276079:M90R|.	M|X	+|+	2|1	0|0	NONO|NONO	70428468|70428468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.819000|7.819000	0.86621|0.86621	1.852000|1.852000	0.53769|0.53769	0.430000|0.430000	0.28490|0.28490	ATG|TGA		0.423	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1		NM_007363	
BACE2	25825	hgsc.bcm.edu	37	21	42551425	42551425	+	Intron	SNP	C	C	G	rs5019195		TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr21:42551425C>G	ENST00000330333.6	+	1	775				PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000328735.6_Intron|PLAC4_ENST00000430327.2_RNA|BACE2-IT1_ENST00000433378.1_RNA|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000440221.2_RNA|PLAC4_ENST00000414699.1_RNA	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGAGGAGTGACGGTGTCTGGG	0.607																																																	0													130.0	112.0	118.0					21																	42551425		2197	4276	6473	SO:0001627	intron_variant	191585			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10923C>G	21.37:g.42551425C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	CCDS13668.1																																																																																				0.607	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			
PTPRM	5797	broad.mit.edu	37	18	8253332	8253332	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr18:8253332G>A	ENST00000332175.8	+	17	3672	c.2635G>A	c.(2635-2637)Gcc>Acc	p.A879T	PTPRM_ENST00000400053.4_Missense_Mutation_p.A817T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A666T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A893T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A892T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	879					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A879T(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTCCACCCCGCCATCCGGGT	0.602																																																	1	Substitution - Missense(1)	kidney(1)											41.0	32.0	35.0					18																	8253332		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2635G>A	18.37:g.8253332G>A	ENSP00000331418:p.Ala879Thr	Somatic		WXS	Illumina GAIIx	Phase_I	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	35	5.517846	0.96416	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.53423	0.94;1.01;0.76;0.62	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.79784	0.993;0.95;0.95	T	0.72737	-0.4203	10	0.56958	D	0.05	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	666;892;879	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	879;893;817;666	ENSP00000331418:A879T;ENSP00000382933:A893T;ENSP00000382927:A817T;ENSP00000387608:A666T	ENSP00000331418:A879T	A	+	1	0	PTPRM	8243332	1.000000	0.71417	0.990000	0.47175	0.986000	0.74619	9.864000	0.99589	2.873000	0.98535	0.561000	0.74099	GCC		0.602	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			
SALL1	6299	hgsc.bcm.edu;ucsc.edu	37	16	51172715	51172716	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr16:51172715_51172716insA	ENST00000251020.4	-	2	3450_3451	c.3417_3418insT	c.(3415-3420)tgtggcfs	p.G1140fs	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Frame_Shift_Ins_p.G1043fs	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1140					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGGTTTTGCCACATGTGTTGC	0.545																																					GBM(103;1352 1446 1855 4775 8890)												0																																										SO:0001589	frameshift_variant	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3418dupT	16.37:g.51172716_51172716dupA	ENSP00000251020:p.Gly1140fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q99881|Q9NSC3|Q9P1R0	Frame_Shift_Ins	INS	ENST00000251020.4	37	CCDS10747.1																																																																																				0.545	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2		NM_002968	
SEMA3A	10371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	83590955	83590955	+	Missense_Mutation	SNP	C	C	T	rs199821305		TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr7:83590955C>T	ENST00000265362.4	-	17	2362	c.2048G>A	c.(2047-2049)gGa>gAa	p.G683E	SEMA3A_ENST00000436949.1_Missense_Mutation_p.G683E	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	683					apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.G683E(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AGAGCCATCTCCATCATCATC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											196.0	176.0	183.0					7																	83590955		2203	4300	6503	SO:0001583	missense	10371			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2048G>A	7.37:g.83590955C>T	ENSP00000265362:p.Gly683Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000265362.4	37	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	4.108	0.018248	0.07959	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.25912	1.77;1.77	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.15912	0.0383	N	0.12887	0.27	0.54753	D	0.999986	B	0.06786	0.001	B	0.06405	0.002	T	0.13308	-1.0514	10	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	683	Q14563	SEM3A_HUMAN	E	683	ENSP00000265362:G683E;ENSP00000415260:G683E	ENSP00000265362:G683E	G	-	2	0	SEMA3A	83428891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.540000	0.67205	2.941000	0.99782	0.655000	0.94253	GGA		0.443	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2		NM_006080	
SIDT2	51092	broad.mit.edu;hgsc.bcm.edu	37	11	117052642	117052642	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr11:117052642C>A	ENST00000324225.4	+	3	956	c.425C>A	c.(424-426)aCc>aAc	p.T142N	SIDT2_ENST00000431081.2_Missense_Mutation_p.T142N|SIDT2_ENST00000530948.1_3'UTR	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	142					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.T142N(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CCAGTCAACACCACATACCAG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											84.0	75.0	78.0					11																	117052642		2201	4296	6497	SO:0001583	missense	51092			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.425C>A	11.37:g.117052642C>A	ENSP00000314023:p.Thr142Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NBY7|Q9Y357	Missense_Mutation	SNP	ENST00000324225.4	37	CCDS31682.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621682	0.66787	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000531353	T;T;T	0.18657	2.22;2.2;2.22	5.14	5.14	0.70334	.	0.055623	0.64402	D	0.000001	T	0.29355	0.0731	L	0.51422	1.61	0.48040	D	0.999572	B;D;P;B	0.53151	0.156;0.958;0.835;0.097	B;P;P;B	0.46543	0.271;0.466;0.52;0.14	T	0.03566	-1.1024	10	0.72032	D	0.01	-33.4603	18.7974	0.92001	0.0:1.0:0.0:0.0	.	142;142;142;142	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	N	142;142;142;41	ENSP00000314023:T142N;ENSP00000278951:T142N;ENSP00000399635:T142N	ENSP00000278951:T142N	T	+	2	0	SIDT2	116557852	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.051000	0.57412	2.676000	0.91093	0.561000	0.74099	ACC		0.577	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1		NM_015996	
SLC26A11	284129	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78199688	78199688	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr17:78199688A>G	ENST00000361193.3	+	6	846	c.566A>G	c.(565-567)cAc>cGc	p.H189R	SLC26A11_ENST00000572725.1_Missense_Mutation_p.H189R|SLC26A11_ENST00000546047.2_Missense_Mutation_p.H189R|SLC26A11_ENST00000411502.3_Missense_Mutation_p.H189R	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11									p.H189R(1)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAGGTGTACCACACCTTCCTC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											191.0	151.0	164.0					17																	78199688		2203	4300	6503	SO:0001583	missense	284129				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.566A>G	17.37:g.78199688A>G	ENSP00000355384:p.His189Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000361193.3	37	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	A	9.331	1.060430	0.19987	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.92595	-3.07;-3.07;-3.07	4.09	1.57	0.23409	Sulphate transporter (1);	0.632694	0.16967	N	0.192251	T	0.82089	0.4961	N	0.10685	0.025	0.34266	D	0.680468	B	0.13594	0.008	B	0.24006	0.05	T	0.77000	-0.2750	10	0.39692	T	0.17	-1.4566	9.9291	0.41512	0.6725:0.3275:0.0:0.0	.	189	Q86WA9	S2611_HUMAN	R	189	ENSP00000403998:H189R;ENSP00000440724:H189R;ENSP00000355384:H189R	ENSP00000355384:H189R	H	+	2	0	SLC26A11	75814283	1.000000	0.71417	0.620000	0.29132	0.872000	0.50106	5.011000	0.64011	0.420000	0.25954	0.383000	0.25322	CAC		0.567	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			
SLC45A1	50651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	8390936	8390936	+	Silent	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr1:8390936C>T	ENST00000471889.1	+	5	1768	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	SLC45A1_ENST00000377479.2_Silent_p.D495D|SLC45A1_ENST00000289877.8_Silent_p.D461D|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	461					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.D461D(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCCCGGACGCAGCCGGAG	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											51.0	64.0	59.0					1																	8390936		2203	4300	6503	SO:0001819	synonymous_variant	50651			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1383C>T	1.37:g.8390936C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	CCDS30577.1																																																																																				0.607	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			
SMARCA2	6595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	2056787	2056787	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr9:2056787A>T	ENST00000382203.1	+	7	1498	c.1289A>T	c.(1288-1290)gAg>gTg	p.E430V	SMARCA2_ENST00000382194.1_Missense_Mutation_p.E430V|SMARCA2_ENST00000357248.2_Missense_Mutation_p.E430V|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E430V			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	430					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.E430V(1)|p.E426V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CGCATGACCGAGAAGCTGGAG	0.567																																																	2	Substitution - Missense(2)	kidney(2)											79.0	75.0	77.0					9																	2056787		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1289A>T	9.37:g.2056787A>T	ENSP00000371638:p.Glu430Val	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.843899	0.91197	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.65312	0.2679	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.981	D;D;D	0.91635	0.999;0.991;0.966	T	0.75722	-0.3218	10	0.72032	D	0.01	-31.5341	14.3162	0.66452	1.0:0.0:0.0:0.0	.	31;430;430	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	V	430	ENSP00000265773:E430V;ENSP00000349788:E430V;ENSP00000392081:E430V;ENSP00000371638:E430V;ENSP00000371629:E430V	ENSP00000265773:E430V	E	+	2	0	SMARCA2	2046787	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	9.305000	0.96197	1.858000	0.53909	0.533000	0.62120	GAG		0.567	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1		NM_003070	
SOX5	6660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	23818384	23818384	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr12:23818384C>T	ENST00000451604.2	-	7	1026	c.925G>A	c.(925-927)Gga>Aga	p.G309R	SOX5_ENST00000545921.1_Missense_Mutation_p.G299R|SOX5_ENST00000381381.2_Missense_Mutation_p.G296R|SOX5_ENST00000537393.1_Missense_Mutation_p.G274R|SOX5_ENST00000541536.1_Missense_Mutation_p.G296R|SOX5_ENST00000546136.1_Missense_Mutation_p.G296R|SOX5_ENST00000309359.1_Missense_Mutation_p.G296R			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	309					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G309R(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTACTACATCCAGCCTTATAG	0.478																																																	1	Substitution - Missense(1)	kidney(1)											122.0	128.0	126.0					12																	23818384		2203	4300	6503	SO:0001583	missense	6660			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.925G>A	12.37:g.23818384C>T	ENSP00000398273:p.Gly309Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063465	0.93898	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921	D;D;D;D;D;D;D	0.97378	-4.27;-4.27;-4.36;-4.27;-4.25;-4.36;-4.27	5.28	5.28	0.74379	.	0.393014	0.27478	N	0.019187	D	0.98024	0.9349	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.87578	0.9;0.998;0.942	D	0.98638	1.0674	10	0.62326	D	0.03	.	19.0818	0.93186	0.0:1.0:0.0:0.0	.	274;296;309	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	R	296;296;296;309;261;274;296;299	ENSP00000437487:G296R;ENSP00000308927:G296R;ENSP00000370788:G296R;ENSP00000398273:G309R;ENSP00000439832:G274R;ENSP00000441973:G296R;ENSP00000443520:G299R	ENSP00000308927:G296R	G	-	1	0	SOX5	23709651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.601000	0.82783	2.733000	0.93635	0.655000	0.94253	GGA		0.478	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940	
SPEF2	79925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35771808	35771808	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr5:35771808A>C	ENST00000356031.3	+	27	4053	c.3899A>C	c.(3898-3900)aAa>aCa	p.K1300T	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.K1295T	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1300					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.K1300T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCAAATAAAAAAGTCAAAAAG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											49.0	52.0	51.0					5																	35771808		1806	4066	5872	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.3899A>C	5.37:g.35771808A>C	ENSP00000348314:p.Lys1300Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	A	8.335	0.827358	0.16749	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.07800	3.16;3.26	5.68	4.38	0.52667	.	0.422689	0.28724	N	0.014348	T	0.16981	0.0408	M	0.69823	2.125	0.80722	D	1	D;P	0.61697	0.99;0.689	P;B	0.56865	0.808;0.286	T	0.01130	-1.1442	10	0.34782	T	0.22	.	4.9844	0.14182	0.7825:0.0:0.2175:0.0	.	1295;1300	Q9C093-2;Q9C093	.;SPEF2_HUMAN	T	1300;1295	ENSP00000348314:K1300T;ENSP00000412125:K1295T	ENSP00000348314:K1300T	K	+	2	0	SPEF2	35807565	0.160000	0.22878	0.264000	0.24511	0.036000	0.12997	1.814000	0.38972	2.296000	0.77279	0.482000	0.46254	AAA		0.423	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1		NM_144722	
SPINK5	11005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	147481422	147481423	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr5:147481422_147481423CC>AA	ENST00000256084.7	+	15	1423_1424	c.1381_1382CC>AA	c.(1381-1383)CCa>AAa	p.P461K	SPINK5_ENST00000359874.3_Missense_Mutation_p.P461K|SPINK5_ENST00000398454.1_Missense_Mutation_p.P461K	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	461	Kazal-like 7. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P461T(2)|p.P461>?(2)|p.P461Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCAGGGCCCAGATGGAAAA	0.5																																																	6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	Exception_encountered	5.37:g.147481422_147481423delinsAA	ENSP00000256084:p.Pro461Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1																																																																																				0.500	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2		NM_001127698	
SYNJ1	8867	broad.mit.edu;ucsc.edu	37	21	34011316	34011316	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr21:34011316G>A	ENST00000322229.7	-	30	3816	c.3817C>T	c.(3817-3819)Cag>Tag	p.Q1273*	SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.Q1257*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.Q1226*|SYNJ1_ENST00000382499.2_Nonsense_Mutation_p.Q1312*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.Q1312*			O43426	SYNJ1_HUMAN	synaptojanin 1	1273	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.Q1273*(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGGCCAGACTGAGGCATAGGT	0.567																																																	1	Substitution - Nonsense(1)	kidney(1)											151.0	161.0	157.0					21																	34011316		2203	4300	6503	SO:0001587	stop_gained	8867			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.3817C>T	21.37:g.34011316G>A	ENSP00000322234:p.Gln1273*	Somatic		WXS	Illumina GAIIx	Phase_I	O43425|O94984|Q4KMR1	Nonsense_Mutation	SNP	ENST00000322229.7	37	CCDS54484.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.669243|7.669243	0.98422|0.98422	.|.	.|.	ENSG00000159082|ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229|ENST00000438952	.|.	.|.	.|.	5.13|5.13	5.13|5.13	0.70059|0.70059	.|.	0.632230|.	0.17166|.	N|.	0.184459|.	.|T	.|0.75095	.|0.3803	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73933	.|-0.3826	.|3	0.06236|.	T|.	0.91|.	.|.	18.9629|18.9629	0.92684|0.92684	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1226;1257;1312;1312;1273|148	.|.	ENSP00000322234:Q1273X|.	Q|S	-|-	1|2	0|0	SYNJ1|SYNJ1	32933187|32933187	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.752000|0.752000	0.42762|0.42762	5.074000|5.074000	0.64401|0.64401	2.543000|2.543000	0.85770|0.85770	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.567	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				
TANC1	85461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160035470	160035470	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr2:160035470C>G	ENST00000263635.6	+	14	2543	c.2306C>G	c.(2305-2307)aCa>aGa	p.T769R	TANC1_ENST00000454300.1_Missense_Mutation_p.T663R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	769					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)		p.T769R(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CACCCCATGACAGACGAGCAG	0.552																																																	1	Substitution - Missense(1)	kidney(1)											170.0	174.0	173.0					2																	160035470		1998	4156	6154	SO:0001583	missense	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.2306C>G	2.37:g.160035470C>G	ENSP00000263635:p.Thr769Arg	Somatic		WXS	Illumina HiSeq	Phase_I	C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	c	26.8	4.773993	0.90108	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	T;T	0.72942	-0.68;-0.7	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83963	0.5368	M	0.66506	2.035	0.80722	D	1	D;D;P	0.89917	0.999;1.0;0.931	D;D;P	0.87578	0.996;0.998;0.688	D	0.83363	0.0003	10	0.54805	T	0.06	.	20.123	0.97969	0.0:1.0:0.0:0.0	.	761;663;769	B9EK39;Q9C0D5-2;Q9C0D5	.;.;TANC1_HUMAN	R	663;769	ENSP00000396339:T663R;ENSP00000263635:T769R	ENSP00000263635:T769R	T	+	2	0	TANC1	159743716	1.000000	0.71417	0.982000	0.44146	0.974000	0.67602	7.815000	0.86186	2.776000	0.95493	0.651000	0.88453	ACA		0.552	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			
TSIX	9383	broad.mit.edu;hgsc.bcm.edu	37	X	73040547	73040547	+	lincRNA	SNP	A	A	G			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chrX:73040547A>G	ENST00000604411.1	+	0	28508				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		GTTTGTTTCAATTGTGACATC	0.348																																																	0													31.0	30.0	31.0					X																	73040547		876	1991	2867			9383					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73040547A>G		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000604411.1	37																																																																																					0.348	TSIX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469120.1		NR_003255	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179452123	179452123	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4962-01A-01D-1462-08	TCGA-BP-4962-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	3454a6fe-2547-4531-a0be-cb27c1879e72	bb91bd89-bf58-47f8-a5fc-e54adf4264f8	g.chr2:179452123T>C	ENST00000591111.1	-	257	59116	c.58892A>G	c.(58891-58893)gAt>gGt	p.D19631G	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D12207G|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12332G|TTN_ENST00000342992.6_Missense_Mutation_p.D18704G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D21272G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12399G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19631	Fibronectin type-III 42. {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)	p.D12332G(1)|p.D12207G(1)|p.D18702G(1)|p.D12399G(1)|p.D18704G(1)		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)			AACTTTTAAATCAGACACAGG	0.428																																																	5	Substitution - Missense(5)	kidney(5)											43.0	38.0	40.0					2																	179452123		1869	4094	5963	SO:0001583	missense	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.58892A>G	2.37:g.179452123T>C	ENSP00000465570:p.Asp19631Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	14.76	2.632379	0.46944	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.98	5.98	0.97165	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39835	0.1093	N	0.13098	0.295	0.42587	D	0.993236	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.26360	-1.0105	9	0.87932	D	0	.	16.4781	0.84144	0.0:0.0:0.0:1.0	.	12207;12332;12399;19631	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	18704;12207;12399;12332;12205	ENSP00000343764:D18704G;ENSP00000434586:D12207G;ENSP00000340554:D12399G;ENSP00000352154:D12332G	ENSP00000340554:D12399G	D	-	2	0	TTN	179160369	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	3.090000	0.50191	2.288000	0.76882	0.528000	0.53228	GAT		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
