#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KTN1	3895	broad.mit.edu	37	14	56084854	56084854	+	Splice_Site	SNP	T	T	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr14:56084854T>C	ENST00000395314.3	+	4	900		c.e4+2		KTN1_ENST00000416613.1_Splice_Site|KTN1_ENST00000395308.1_Splice_Site|KTN1_ENST00000395311.1_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000413890.2_Splice_Site|KTN1_ENST00000395309.3_Splice_Site	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)						microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.?(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTGACAAAGGTAATATATGGG	0.338			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Unknown(1)	p.?(1)	kidney(1)	breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.e3+2		kinectin 1 (kinesin receptor)							74.0	77.0	76.0					14																	56084854		2199	4297	6496	SO:0001630	splice_region_variant	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56084854T>C		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.832+2T>C	14.37:g.56084854T>C						KTN1_ENST00000395308.1_Splice_Site|KTN1_ENST00000395309.3_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000395311.1_Splice_Site|KTN1_ENST00000413890.2_Splice_Site|KTN1_ENST00000395314.3_Splice_Site				Q86UP2	KTN1_HUMAN			3	904	+								B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Splice_Site	SNP	ENST00000395314.3	37		CCDS41957.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.864836	0.71949	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1758	0.81851	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KTN1	55154607	1.000000	0.71417	0.998000	0.56505	0.872000	0.50106	6.478000	0.73596	2.225000	0.72522	0.477000	0.44152	.		0.338	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		Intron	14	35	0	0	0	1	0	14	35				
GRM3	2913	broad.mit.edu	37	7	86415889	86415889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:86415889C>T	ENST00000361669.2	+	3	1880	c.781C>T	c.(781-783)Cga>Tga	p.R261*	GRM3_ENST00000394720.2_Nonsense_Mutation_p.R259*|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Nonsense_Mutation_p.R133*|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Nonsense_Mutation_p.R261*|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	261					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CAGCGTGATCCGAGAACTGTT	0.652																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(781-783)Cga>Tga		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						48.0	52.0	51.0					7																	86415889		2203	4300	6503	SO:0001587	stop_gained	0				synaptic transmission	integral to plasma membrane		g.chr7:86415889C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.781C>T	7.37:g.86415889C>T	ENSP00000355316:p.Arg261*					AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Nonsense_Mutation_p.R261*|GRM3_ENST00000394720.2_Nonsense_Mutation_p.R259*|GRM3_ENST00000546348.1_Intron|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Nonsense_Mutation_p.R133*	p.R261*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			3	1880	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		261					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Nonsense_Mutation	SNP	ENST00000361669.2	37	c.781C>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	C	38	6.986672	0.97983	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	.	.	.	6.07	6.07	0.98685	.	0.052518	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1068	0.59252	0.2494:0.7506:0.0:0.0	.	.	.	.	X	261;133;133;261;259	.	ENSP00000355316:R261X	R	+	1	2	GRM3	86253825	1.000000	0.71417	0.923000	0.36655	0.990000	0.78478	3.130000	0.50508	2.885000	0.99019	0.655000	0.94253	CGA		0.652	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			9	38	0	0	0	1	0	9	38				
FOXI1	2299	broad.mit.edu	37	5	169533422	169533422	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr5:169533422C>T	ENST00000306268.6	+	1	522	c.461C>T	c.(460-462)gCc>gTc	p.A154V	FOXI1_ENST00000449804.2_Missense_Mutation_p.A154V			Q12951	FOXI1_HUMAN	forkhead box I1	154					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTACGTGGCCGACAACTTC	0.612									Pendred syndrome																													ENST00000449804.2																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(460-462)gCc>gTc		forkhead box I1							51.0	49.0	50.0					5																	169533422		2203	4300	6503	SO:0001583	missense	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533422C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.461C>T	5.37:g.169533422C>T	ENSP00000304286:p.Ala154Val					FOXI1_ENST00000306268.6_Missense_Mutation_p.A154V	p.A154V	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	506	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	154					Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	37	c.461C>T	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301134	0.81136	.	.	ENSG00000168269	ENST00000306268;ENST00000449804	D;D	0.95377	-3.69;-3.69	4.86	4.86	0.63082	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	N	0.10945	0.07	0.80722	D	1	P;D	0.89917	0.937;1.0	P;D	0.91635	0.478;0.999	D	0.96538	0.9398	10	0.72032	D	0.01	.	18.1961	0.89822	0.0:1.0:0.0:0.0	.	154;154	Q12951-2;Q12951	.;FOXI1_HUMAN	V	154	ENSP00000304286:A154V;ENSP00000415483:A154V	ENSP00000304286:A154V	A	+	2	0	FOXI1	169466000	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	7.646000	0.83445	2.513000	0.84729	0.650000	0.86243	GCC		0.612	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		17	14	0	0	0	1	0	17	14				
SOX5	6660	broad.mit.edu	37	12	23716299	23716299	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:23716299G>C	ENST00000451604.2	-	11	1482	c.1381C>G	c.(1381-1383)Caa>Gaa	p.Q461E	SOX5_ENST00000546136.1_Missense_Mutation_p.Q448E|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000381381.2_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.Q451E|SOX5_ENST00000537393.1_Missense_Mutation_p.Q426E|SOX5_ENST00000396007.2_Missense_Mutation_p.Q75E|SOX5_ENST00000309359.1_Missense_Mutation_p.Q448E			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	461					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)			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						CGAGCTTCTTGGATTGCCTTG	0.448																																						ENST00000546136.1																			0				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						c.(1342-1344)Caa>Gaa		SRY (sex determining region Y)-box 5							171.0	147.0	155.0					12																	23716299		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23716299G>C	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.1381C>G	12.37:g.23716299G>C	ENSP00000398273:p.Gln461Glu					SOX5_ENST00000396007.2_Missense_Mutation_p.Q75E|SOX5_ENST00000451604.2_Missense_Mutation_p.Q461E|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.Q448E|SOX5_ENST00000537393.1_Missense_Mutation_p.Q426E|SOX5_ENST00000545921.1_Missense_Mutation_p.Q451E|SOX5_ENST00000381381.2_Intron	p.Q448E			P35711	SOX5_HUMAN			10	1344	-			461					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1342C>G	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.740484	0.49045	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	5.93	5.93	0.95920	.	0.118041	0.64402	D	0.000018	T	0.53916	0.1826	M	0.67397	2.05	0.80722	D	1	B;B;B	0.32939	0.391;0.271;0.051	B;B;B	0.35727	0.209;0.103;0.025	T	0.53795	-0.8388	10	0.54805	T	0.06	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	426;461;75	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	E	448;448;461;413;426;75;451	ENSP00000437487:Q448E;ENSP00000308927:Q448E;ENSP00000398273:Q461E;ENSP00000439832:Q426E;ENSP00000379328:Q75E;ENSP00000443520:Q451E	ENSP00000308927:Q448E	Q	-	1	0	SOX5	23607566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.937000	0.70162	2.814000	0.96858	0.591000	0.81541	CAA		0.448	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		26	56	0	0	0	1	0	26	56				
COMMD5	28991	broad.mit.edu	37	8	146076589	146076589	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr8:146076589C>T	ENST00000305103.3	-	2	387	c.135G>A	c.(133-135)agG>agA	p.R45R	AF235103.1_ENST00000578937.1_RNA|COMMD5_ENST00000402718.3_Silent_p.R45R|COMMD5_ENST00000450361.2_Silent_p.R45R	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	45						nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TGAACGTGCTCCTGTCTAGGT	0.607																																						ENST00000450361.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11						c.(133-135)agG>agA		COMM domain containing 5							55.0	55.0	55.0					8																	146076589		2203	4300	6503	SO:0001819	synonymous_variant	28991					nucleus	protein binding	g.chr8:146076589C>T	AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.135G>A	8.37:g.146076589C>T						COMMD5_ENST00000305103.3_Silent_p.R45R|COMMD5_ENST00000402718.3_Silent_p.R45R	p.R45R	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)		2	556	-	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		45					D3DWN7|Q9NVN6|Q9UHX5	Silent	SNP	ENST00000305103.3	37	c.135G>A	CCDS6436.1																																																																																				0.607	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000382962.1	NM_014066		32	33	0	0	0	1	0	32	33				
PYDC1	260434	broad.mit.edu	37	16	31230715	31230715	+	5'Flank	SNP	C	C	T	rs200796476		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr16:31230715C>T	ENST00000302964.3	-	0	0				TRIM72_ENST00000322122.3_Missense_Mutation_p.R198W	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1						innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of interleukin-1 beta secretion (GO:0050718)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGAGCGTGTACGGGGTGAGGC	0.682													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15557	0.0		0.0	False		,,,				2504	0.0					ENST00000322122.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						c.(592-594)Cgg>Tgg		tripartite motif containing 72		C	TRP/ARG	1,4393	2.1+/-5.4	0,1,2196	47.0	50.0	49.0		592	3.3	0.1	16		49	0,8598		0,0,4299	yes	missense	TRIM72	NM_001008274.3	101	0,1,6495	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	198/478	31230715	1,12991	2197	4299	6496	SO:0001631	upstream_gene_variant	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31230715C>T		CCDS10710.1	16p11.2	2008-02-05	2005-12-02		ENSG00000169900	ENSG00000169900			30261	protein-coding gene	gene with protein product		615700	"""pyrin domain containing 1"""			11786556, 16905547	Standard	NM_152901		Approved	ASC2, POP1	uc002ebo.3	Q8WXC3	OTTHUMG00000132407		16.37:g.31230715C>T	Exception_encountered						p.R198W	NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN			4	876	+			198					B2R8L4|Q8NFP8	Missense_Mutation	SNP	ENST00000302964.3	37	c.592C>T	CCDS10710.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	8.114	0.779469	0.16120	2.28E-4	0.0	ENSG00000177238	ENST00000322122	T	0.65178	-0.14	5.37	3.28	0.37604	.	0.616595	0.14872	N	0.293482	T	0.42921	0.1224	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.34625	-0.9821	10	0.87932	D	0	.	4.7924	0.13256	0.1765:0.6108:0.1233:0.0894	.	198	Q6ZMU5	TRI72_HUMAN	W	198	ENSP00000312675:R198W	ENSP00000312675:R198W	R	+	1	2	TRIM72	31138216	0.006000	0.16342	0.118000	0.21660	0.069000	0.16628	0.406000	0.21032	1.255000	0.44051	0.655000	0.94253	CGG		0.682	PYDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255543.2	NM_152901		7	37	0	0	0	1	0	7	37				
OR13C8	138802	broad.mit.edu	37	9	107332225	107332225	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr9:107332225C>T	ENST00000335040.1	+	1	777	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCATGTACGCAAAGCCTG	0.453																																						ENST00000335040.1																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(775-777)taC>taT		olfactory receptor, family 13, subfamily C, member 8							111.0	98.0	103.0					9																	107332225		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332225C>T		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.777C>T	9.37:g.107332225C>T							p.Y259Y	NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN			1	777	+			259					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.777C>T	CCDS35090.1																																																																																				0.453	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1			9	40	0	0	0	1	0	9	40				
KDM6B	23135	broad.mit.edu	37	17	7750173	7750173	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:7750173C>G	ENST00000448097.2	+	9	1079	c.748C>G	c.(748-750)Cca>Gca	p.P250A	KDM6B_ENST00000254846.5_Missense_Mutation_p.P250A			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	250	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						gcctccaccaccattaccacc	0.622																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(748-750)Cca>Gca		lysine (K)-specific demethylase 6B							34.0	30.0	31.0					17																	7750173		2196	4290	6486	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7750173C>G	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.748C>G	17.37:g.7750173C>G	ENSP00000412513:p.Pro250Ala					KDM6B_ENST00000448097.2_Missense_Mutation_p.P250A	p.P250A	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			9	1137	+			250			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.748C>G		.	.	.	.	.	.	.	.	.	.	C	11.57	1.677436	0.29783	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.31510	1.49;1.49	4.83	3.86	0.44501	.	0.414645	0.17568	U	0.169563	T	0.17704	0.0425	N	0.08118	0	0.26109	N	0.98071	P	0.49783	0.928	P	0.47673	0.554	T	0.03463	-1.1034	10	0.38643	T	0.18	-6.9055	5.4076	0.16330	0.2019:0.6979:0.0:0.1002	.	250	O15054-1	.	A	250	ENSP00000254846:P250A;ENSP00000412513:P250A	ENSP00000254846:P250A	P	+	1	0	KDM6B	7690898	0.432000	0.25554	0.998000	0.56505	0.886000	0.51366	-0.118000	0.10692	2.619000	0.88677	0.462000	0.41574	CCA		0.622	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		6	8	0	0	0	1	0	6	8				
SLC2A9	56606	broad.mit.edu	37	4	9998546	9998546	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:9998546T>C	ENST00000264784.3	-	3	322	c.269A>G	c.(268-270)aAt>aGt	p.N90S	SLC2A9_ENST00000506583.1_Missense_Mutation_p.N61S|SLC2A9_ENST00000309065.3_Missense_Mutation_p.N61S	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	90					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCATGACTCATTGTAAAAGGC	0.443																																						ENST00000506583.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(181-183)aAt>aGt		solute carrier family 2 (facilitated glucose transporter), member 9							144.0	133.0	137.0					4																	9998546		2203	4300	6503	SO:0001583	missense	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:9998546T>C	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.269A>G	4.37:g.9998546T>C	ENSP00000264784:p.Asn90Ser					SLC2A9_ENST00000309065.3_Missense_Mutation_p.N61S|SLC2A9_ENST00000264784.3_Missense_Mutation_p.N90S	p.N61S			Q9NRM0	GTR9_HUMAN			5	399	-			90					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Missense_Mutation	SNP	ENST00000264784.3	37	c.182A>G	CCDS3407.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698393	0.68386	.	.	ENSG00000109667	ENST00000506583;ENST00000264784;ENST00000309065;ENST00000513129	T;T;T;T	0.81163	0.28;-1.37;0.28;-1.46	5.21	4.03	0.46877	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.153416	0.56097	D	0.000026	D	0.85496	0.5710	M	0.69463	2.115	0.34975	D	0.753535	P;D	0.58268	0.942;0.982	P;D	0.65573	0.831;0.936	D	0.87581	0.2484	9	.	.	.	.	7.976	0.30155	0.0:0.0933:0.0:0.9067	.	61;90	Q9NRM0-2;Q9NRM0	.;GTR9_HUMAN	S	61;90;61;61	ENSP00000422209:N61S;ENSP00000264784:N90S;ENSP00000311383:N61S;ENSP00000426800:N61S	.	N	-	2	0	SLC2A9	9607644	1.000000	0.71417	0.929000	0.37066	0.981000	0.71138	4.445000	0.60007	0.966000	0.38159	0.524000	0.50904	AAT		0.443	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			5	72	0	0	0	1	0	5	72				
NBPF10	100132406	broad.mit.edu	37	1	145293269	145293269	+	Splice_Site	SNP	G	G	A	rs61350760		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:145293269G>A	ENST00000468030.1	+	5	1125		c.e5+1		NBPF10_ENST00000369338.1_Splice_Site|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000342960.5_5'Flank																							TTTCACAACAGTAAGTTAAGA	0.423																																						ENST00000369338.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.e1+1		neuroblastoma breakpoint family, member 10																																				SO:0001630	splice_region_variant	100132406							g.chr1:145293269G>A																												ENST00000468030.1:c.714+1G>A	1.37:g.145293269G>A						RP11-458D21.5_ENST00000468030.1_Splice_Site|NBPF10_ENST00000369339.2_Intron				A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	1	155	+	all_hematologic(923;0.032)								Splice_Site	SNP	ENST00000468030.1	37																																																																																						0.423	RP11-458D21.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000038553.9		Intron	5	33	0	0	0	1	0	5	33				
SLITRK3	22865	broad.mit.edu	37	3	164907773	164907773	+	Silent	SNP	G	G	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:164907773G>T	ENST00000475390.1	-	2	1289	c.846C>A	c.(844-846)ccC>ccA	p.P282P	SLITRK3_ENST00000241274.3_Silent_p.P282P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	282	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGACAACAAGGGACAGAGTT	0.478										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(844-846)ccC>ccA		SLIT and NTRK-like family, member 3							111.0	115.0	113.0					3																	164907773		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164907773G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.846C>A	3.37:g.164907773G>T		HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Silent_p.P282P	p.P282P			O94933	SLIK3_HUMAN			2	1289	-			282			LRRCT 1.		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.846C>A	CCDS3197.1																																																																																				0.478	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		13	57	1	0	2.27111e-07	1	2.34321e-07	13	57				
ARHGAP10	79658	broad.mit.edu	37	4	148985641	148985641	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:148985641G>A	ENST00000336498.3	+	22	2494	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G350E	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTGAAATAGGAGCAATTTTT	0.463																																						ENST00000336498.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(2254-2256)gGa>gAa		Rho GTPase activating protein 10							123.0	117.0	119.0					4																	148985641		2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148985641G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.2255G>A	4.37:g.148985641G>A	ENSP00000336923:p.Gly752Glu					ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G350E	p.G752E	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	22	2494	+	all_hematologic(180;0.151)	Renal(17;0.0166)	752			SH3.		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.2255G>A	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585793	0.86748	.	.	ENSG00000071205	ENST00000336498;ENST00000414545	T;T	0.69685	-0.42;-0.42	5.62	5.62	0.85841	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.87779	0.6263	H	0.95043	3.615	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.91012	0.4850	10	0.87932	D	0	.	18.4615	0.90739	0.0:0.0:1.0:0.0	.	185;333;350;752	Q9H7G7;Q86T21;E7EUW5;A1A4S6	.;.;.;RHG10_HUMAN	E	752;350	ENSP00000336923:G752E;ENSP00000406624:G350E	ENSP00000336923:G752E	G	+	2	0	ARHGAP10	149205091	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.837000	0.86796	2.648000	0.89879	0.650000	0.86243	GGA		0.463	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605		7	25	0	0	0	1	0	7	25				
DNAH7	56171	broad.mit.edu	37	2	196728873	196728873	+	Splice_Site	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr2:196728873C>T	ENST00000312428.6	-	41	7606	c.7506G>A	c.(7504-7506)caG>caA	p.Q2502Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2502	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGACAATACCTGAAACCAGT	0.388																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.e41+1		dynein, axonemal, heavy chain 7							60.0	57.0	58.0					2																	196728873		1885	4106	5991	SO:0001630	splice_region_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196728873C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7506+1G>A	2.37:g.196728873C>T							p.Q2502_splice	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			41	7606	-			2502			AAA 4 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	ENST00000312428.6	37	c.7506_splice	CCDS42794.1																																																																																				0.388	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	Silent	18	23	0	0	0	1	0	18	23				
CLEC1B	51266	broad.mit.edu	37	12	10145811	10145811	+	Silent	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:10145811G>A	ENST00000298527.6	-	6	800	c.621C>T	c.(619-621)ttC>ttT	p.F207F	CLEC1B_ENST00000348658.4_Silent_p.F174F|CLEC1B_ENST00000428126.2_Silent_p.F174F	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	207	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TGTTCTCACAGAAGGTAGGGT	0.378																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(520-522)ttC>ttT		C-type lectin domain family 1, member B							184.0	168.0	173.0					12																	10145811		1881	4107	5988	SO:0001819	synonymous_variant	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10145811G>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.621C>T	12.37:g.10145811G>A						CLEC1B_ENST00000298527.6_Silent_p.F207F|CLEC1B_ENST00000348658.4_Silent_p.F174F	p.F174F			Q9P126	CLC1B_HUMAN			7	791	-			207			C-type lectin.		Q6UWX7|Q8NHR6	Silent	SNP	ENST00000298527.6	37	c.522C>T	CCDS41752.1																																																																																				0.378	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		31	105	0	0	0	1	0	31	105				
TRAF5	7188	broad.mit.edu	37	1	211526628	211526628	+	Missense_Mutation	SNP	G	G	A	rs377497907		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:211526628G>A	ENST00000261464.5	+	2	101	c.47G>A	c.(46-48)cGc>cAc	p.R16H	TRAF5_ENST00000336184.2_Missense_Mutation_p.R16H|TRAF5_ENST00000427925.2_Missense_Mutation_p.R16H|TRAF5_ENST00000367004.3_Missense_Mutation_p.R16H|TRAF5_ENST00000462410.1_3'UTR	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	16					apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GGTTTCATCCGCCAGAATTCC	0.483											OREG0014232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000336184.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(46-48)cGc>cAc		TNF receptor-associated factor 5		G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	133.0	132.0	133.0		47,47,47	2.8	1.0	1		133	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TRAF5	NM_145759.2,NM_004619.3,NM_001033910.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	16/558,16/558,16/558	211526628	1,13005	2203	4300	6503	SO:0001583	missense	7188				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:211526628G>A	AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.47G>A	1.37:g.211526628G>A	ENSP00000261464:p.Arg16His		OREG0014232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2198	TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Missense_Mutation_p.R16H|TRAF5_ENST00000427925.2_Missense_Mutation_p.R16H|TRAF5_ENST00000261464.5_Missense_Mutation_p.R16H	p.R16H	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)	2	107	+			16					B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	ENST00000261464.5	37	c.47G>A	CCDS1497.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651832	0.47362	0.0	1.16E-4	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.39592	1.96;1.07;1.96;1.96	4.85	2.84	0.33178	.	0.539961	0.17647	N	0.166832	T	0.22244	0.0536	N	0.17082	0.46	0.31115	N	0.709542	B;B;B	0.33135	0.022;0.399;0.14	B;B;B	0.23275	0.011;0.045;0.015	T	0.15378	-1.0439	10	0.36615	T	0.2	-3.3874	10.226	0.43225	0.0786:0.1388:0.7825:0.0	.	16;16;16	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	H	16	ENSP00000336825:R16H;ENSP00000389891:R16H;ENSP00000261464:R16H;ENSP00000355971:R16H	ENSP00000261464:R16H	R	+	2	0	TRAF5	209593251	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	3.717000	0.54911	2.387000	0.81309	0.655000	0.94253	CGC		0.483	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089825.1	NM_004619		18	102	0	0	0	1	0	18	102				
CCDC68	80323	broad.mit.edu	37	18	52602091	52602091	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr18:52602091T>C	ENST00000591504.1	-	7	834	c.560A>G	c.(559-561)cAa>cGa	p.Q187R	CCDC68_ENST00000337363.4_Missense_Mutation_p.Q187R|CCDC68_ENST00000432185.1_Missense_Mutation_p.Q187R	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	187										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTCTGTAATTTGACTGTGTTT	0.353																																						ENST00000591504.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14						c.(559-561)cAa>cGa		coiled-coil domain containing 68							177.0	161.0	166.0					18																	52602091		2203	4300	6503	SO:0001583	missense	80323							g.chr18:52602091T>C		CCDS11959.1	18q21	2006-02-07			ENSG00000166510	ENSG00000166510			24350	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma associated antigen"""					11149944, 15142679	Standard	NM_025214		Approved	SE57-1	uc002lft.3	Q9H2F9	OTTHUMG00000132708	ENST00000591504.1:c.560A>G	18.37:g.52602091T>C	ENSP00000466690:p.Gln187Arg					CCDC68_ENST00000337363.4_Missense_Mutation_p.Q187R|CCDC68_ENST00000432185.1_Missense_Mutation_p.Q187R	p.Q187R	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN		Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)	7	834	-			187					B2R9I3	Missense_Mutation	SNP	ENST00000591504.1	37	c.560A>G	CCDS11959.1	.	.	.	.	.	.	.	.	.	.	T	4.749	0.139329	0.09083	.	.	ENSG00000166510	ENST00000337363;ENST00000432185	T;T	0.26373	1.74;1.74	5.27	2.91	0.33838	.	0.333064	0.26116	N	0.026247	T	0.18841	0.0452	L	0.46947	1.48	0.28288	N	0.92369	B	0.19073	0.033	B	0.20577	0.03	T	0.28839	-1.0031	10	0.13108	T	0.6	-2.0289	7.4791	0.27393	0.0:0.1737:0.0:0.8263	.	187	Q9H2F9	CCD68_HUMAN	R	187	ENSP00000337209:Q187R;ENSP00000413406:Q187R	ENSP00000337209:Q187R	Q	-	2	0	CCDC68	50753089	0.983000	0.35010	0.840000	0.33206	0.990000	0.78478	0.476000	0.22180	0.347000	0.23924	0.528000	0.53228	CAA		0.353	CCDC68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256006.1	NM_025214		10	62	0	0	0	1	0	10	62				
TMEM45B	120224	broad.mit.edu	37	11	129722502	129722502	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr11:129722502A>C	ENST00000524567.1	+	2	406	c.125A>C	c.(124-126)tAt>tCt	p.Y42S	TMEM45B_ENST00000281441.3_Missense_Mutation_p.Y42S			Q96B21	TM45B_HUMAN	transmembrane protein 45B	42						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTACATTACTATCAGCGTCTC	0.498																																						ENST00000281441.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						c.(124-126)tAt>tCt		transmembrane protein 45B							154.0	140.0	145.0					11																	129722502		2201	4297	6498	SO:0001583	missense	120224					integral to membrane		g.chr11:129722502A>C	AK098106	CCDS8482.1	11q24.3	2008-02-05				ENSG00000151715			25194	protein-coding gene	gene with protein product						12477932	Standard	NM_138788		Approved	BC016153, FLJ40787	uc001qfe.1	Q96B21		ENST00000524567.1:c.125A>C	11.37:g.129722502A>C	ENSP00000436293:p.Tyr42Ser					TMEM45B_ENST00000524567.1_Missense_Mutation_p.Y42S	p.Y42S	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)	2	213	+	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	42					A8K2L8	Missense_Mutation	SNP	ENST00000524567.1	37	c.125A>C	CCDS8482.1	.	.	.	.	.	.	.	.	.	.	A	12.07	1.826964	0.32329	.	.	ENSG00000151715	ENST00000281441;ENST00000524567	T;T	0.29655	1.56;1.56	5.64	1.93	0.25924	.	.	.	.	.	T	0.22859	0.0552	L	0.53249	1.67	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.30475	-0.9977	9	0.20046	T	0.44	-1.0943	2.3703	0.04329	0.4351:0.0:0.1885:0.3764	.	42	Q96B21	TM45B_HUMAN	S	42	ENSP00000281441:Y42S;ENSP00000436293:Y42S	ENSP00000281441:Y42S	Y	+	2	0	TMEM45B	129227712	0.401000	0.25303	0.000000	0.03702	0.020000	0.10135	4.173000	0.58249	0.356000	0.24157	0.533000	0.62120	TAT		0.498	TMEM45B-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386062.1	NM_138788		5	57	0	0	0	1	0	5	57				
SAMD9	54809	broad.mit.edu	37	7	92733350	92733350	+	Silent	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:92733350G>A	ENST00000379958.2	-	3	2330	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	687						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGACACTTTGCCACCTCGAT	0.353																																						ENST00000379958.2																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2059-2061)ggC>ggT		sterile alpha motif domain containing 9							152.0	147.0	149.0					7																	92733350		2203	4300	6503	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92733350G>A	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2061C>T	7.37:g.92733350G>A							p.G687G	NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2330	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		687					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.2061C>T	CCDS34680.1																																																																																				0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		26	125	0	0	0	1	0	26	125				
ASB5	140458	broad.mit.edu	37	4	177142621	177142621	+	Missense_Mutation	SNP	G	G	A	rs545829322		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:177142621G>A	ENST00000296525.3	-	4	628	c.515C>T	c.(514-516)aCg>aTg	p.T172M	ASB5_ENST00000512254.1_Missense_Mutation_p.T119M|ASB5_ENST00000511879.1_5'Flank	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	172					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.T172M(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGCCTCATGCGTTGGGGATGG	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		19939	0.0		0.0	False		,,,				2504	0.001					ENST00000296525.3																			1	Substitution - Missense(1)	p.T172M(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34						c.(514-516)aCg>aTg		ankyrin repeat and SOCS box containing 5							122.0	119.0	120.0					4																	177142621		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177142621G>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.515C>T	4.37:g.177142621G>A	ENSP00000296525:p.Thr172Met					ASB5_ENST00000512254.1_Missense_Mutation_p.T119M	p.T172M	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	4	628	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	172					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.515C>T	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.308229	0.23821	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.63913	0.66;-0.07	5.91	3.89	0.44902	Ankyrin repeat-containing domain (3);	0.483471	0.24120	N	0.041363	T	0.32436	0.0829	N	0.01168	-0.975	0.09310	N	1	B;B	0.16396	0.004;0.017	B;B	0.11329	0.004;0.006	T	0.33111	-0.9881	10	0.72032	D	0.01	-17.7835	10.1648	0.42873	0.2328:0.0:0.7672:0.0	.	172;119	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	M	172;119	ENSP00000296525:T172M;ENSP00000422877:T119M	ENSP00000296525:T172M	T	-	2	0	ASB5	177379615	0.022000	0.18835	0.954000	0.39281	0.309000	0.27889	1.252000	0.32874	1.511000	0.48818	0.655000	0.94253	ACG		0.493	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			8	71	0	0	0	1	0	8	71				
NISCH	11188	broad.mit.edu	37	3	52525392	52525392	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:52525392C>T	ENST00000479054.1	+	21	3839	c.3767C>T	c.(3766-3768)aCg>aTg	p.T1256M	NISCH_ENST00000345716.4_Missense_Mutation_p.T1256M			Q9Y2I1	NISCH_HUMAN	nischarin	1256					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CAGGTGGTCACGTGCTTGACG	0.667																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(3766-3768)aCg>aTg		nischarin							77.0	58.0	65.0					3																	52525392		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52525392C>T	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.3767C>T	3.37:g.52525392C>T	ENSP00000418232:p.Thr1256Met					NISCH_ENST00000479054.1_Missense_Mutation_p.T1256M	p.T1256M	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	20	3901	+			1256					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.3767C>T	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732072	0.69189	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.13657	2.57;2.57	5.65	5.65	0.86999	.	0.171455	0.49916	D	0.000127	T	0.23210	0.0561	L	0.32530	0.975	0.44194	D	0.997015	D	0.69078	0.997	P	0.54210	0.745	T	0.00346	-1.1800	10	0.87932	D	0	-18.7152	19.7312	0.96182	0.0:1.0:0.0:0.0	.	1256	Q9Y2I1	NISCH_HUMAN	M	1256;1256;180;600	ENSP00000418232:T1256M;ENSP00000339958:T1256M	ENSP00000339958:T1256M	T	+	2	0	NISCH	52500432	0.980000	0.34600	0.410000	0.26471	0.610000	0.37248	5.002000	0.63952	2.677000	0.91161	0.561000	0.74099	ACG		0.667	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		12	14	0	0	0	1	0	12	14				
WFIKKN2	124857	broad.mit.edu	37	17	48918243	48918243	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:48918243G>A	ENST00000311378.4	+	2	2122	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E439K|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	532	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CATCATGGGGGAGGTGGACGG	0.642																																						ENST00000311378.4																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(1594-1596)Gag>Aag		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2							57.0	44.0	48.0					17																	48918243		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48918243G>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.1594G>A	17.37:g.48918243G>A	ENSP00000311184:p.Glu532Lys					WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E439K|RP11-506D12.5_ENST00000572491.2_RNA	p.E532K	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	2122	+			532			NTR.		Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.1594G>A	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126196	0.56721	.	.	ENSG00000173714	ENST00000426127;ENST00000311378;ENST00000393226	T;T	0.21361	2.01;2.01	5.12	5.12	0.69794	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (1);	0.102578	0.64402	D	0.000005	T	0.22820	0.0551	L	0.38175	1.15	0.43756	D	0.996268	B	0.29590	0.25	B	0.33254	0.16	T	0.03503	-1.1030	10	0.48119	T	0.1	.	18.9277	0.92552	0.0:0.0:1.0:0.0	.	532	Q8TEU8	WFKN2_HUMAN	K	439;532;238	ENSP00000405889:E439K;ENSP00000311184:E532K	ENSP00000311184:E532K	E	+	1	0	WFIKKN2	46273242	0.997000	0.39634	0.996000	0.52242	0.968000	0.65278	2.442000	0.44873	2.539000	0.85634	0.561000	0.74099	GAG		0.642	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		7	19	0	0	0	1	0	7	19				
STAMBPL1	57559	broad.mit.edu	37	10	90673204	90673204	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr10:90673204G>A	ENST00000371926.3	+	6	1725	c.767G>A	c.(766-768)aGt>aAt	p.S256N	STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S256N|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.S90N|STAMBPL1_ENST00000371927.3_Missense_Mutation_p.S256N	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	256						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		GCTACTCTAAGTGCTGTTCAG	0.448																																						ENST00000371927.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(766-768)aGt>aAt		STAM binding protein-like 1							75.0	73.0	74.0					10																	90673204		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90673204G>A	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.767G>A	10.37:g.90673204G>A	ENSP00000360994:p.Ser256Asn					STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S256N|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.S90N|STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S256N	p.S256N			Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1725	+		Colorectal(252;0.0381)	256					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.767G>A	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.917962	0.52546	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	T;T;T;T	0.25250	1.84;1.81;1.84;1.81	5.75	5.75	0.90469	.	0.106703	0.64402	D	0.000005	T	0.17023	0.0409	N	0.08118	0	0.36510	D	0.869533	B;D	0.53151	0.095;0.958	B;P	0.45232	0.051;0.474	T	0.14671	-1.0464	10	0.19590	T	0.45	-4.124	16.6581	0.85234	0.0:0.0:1.0:0.0	.	256;256	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	N	256;256;256;90	ENSP00000360994:S256N;ENSP00000360995:S256N;ENSP00000360992:S256N;ENSP00000360990:S90N	ENSP00000360990:S90N	S	+	2	0	STAMBPL1	90663184	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.620000	0.67736	2.712000	0.92718	0.650000	0.86243	AGT		0.448	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		21	27	0	0	0	1	0	21	27				
TACC2	10579	broad.mit.edu	37	10	123845220	123845220	+	Missense_Mutation	SNP	G	G	A	rs377162544		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr10:123845220G>A	ENST00000369005.1	+	4	3545	c.3205G>A	c.(3205-3207)Gga>Aga	p.G1069R	TACC2_ENST00000334433.3_Missense_Mutation_p.G1069R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.G1069R|TACC2_ENST00000515603.1_Missense_Mutation_p.G1069R|TACC2_ENST00000515273.1_Missense_Mutation_p.G1069R|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1069					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.G1069R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCCAGCCCCGGAGTCACACC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		15959	0.0		0.0	False		,,,				2504	0.001					ENST00000369005.1																			1	Substitution - Missense(1)	p.G1069R(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(3205-3207)Gga>Aga		transforming, acidic coiled-coil containing protein 2		G	,ARG/GLY	0,4406		0,0,2203	38.0	45.0	43.0		,3205	-11.6	0.0	10		43	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	TACC2	NM_206861.1,NM_206862.2	,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign	,1069/2949	123845220	1,13005	2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123845220G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.3205G>A	10.37:g.123845220G>A	ENSP00000358001:p.Gly1069Arg					TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.G1069R|TACC2_ENST00000515273.1_Missense_Mutation_p.G1069R|TACC2_ENST00000515603.1_Missense_Mutation_p.G1069R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.G1069R	p.G1069R	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	3545	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1069					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.3205G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	2.120	-0.401691	0.04865	0.0	1.16E-4	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02606	4.23;4.25;4.26;4.23;4.25	5.8	-11.6	0.00059	.	2.281370	0.02211	N	0.063239	T	0.01156	0.0038	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.04013	0.001;0.001;0.001	T	0.41770	-0.9490	10	0.02654	T	1	5.0672	13.8593	0.63550	0.2455:0.1564:0.5981:0.0	.	1069;1069;1069	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	R	1069;1069;1069;1069;1069;1059	ENSP00000358001:G1069R;ENSP00000424467:G1069R;ENSP00000427618:G1069R;ENSP00000334280:G1069R;ENSP00000395048:G1069R	ENSP00000334280:G1069R	G	+	1	0	TACC2	123835210	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-1.065000	0.03458	-3.098000	0.00245	-0.272000	0.10252	GGA		0.642	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			4	42	0	0	0	1	0	4	42				
PAPPA2	60676	broad.mit.edu	37	1	176525894	176525894	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:176525894G>A	ENST00000367662.3	+	2	1600	c.436G>A	c.(436-438)Gct>Act	p.A146T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	146					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGATGATGACGCTTATCTCGG	0.542																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(436-438)Gct>Act		pappalysin 2							100.0	105.0	103.0					1																	176525894		2143	4249	6392	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525894G>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.436G>A	1.37:g.176525894G>A	ENSP00000356634:p.Ala146Thr					PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146T	p.A146T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1600	+			146					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.436G>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	1.425	-0.571793	0.03882	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.28454	4.83;1.61	4.63	2.2	0.27929	.	1.292050	0.05683	N	0.590846	T	0.06005	0.0156	N	0.00162	-1.95	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39761	-0.9598	10	0.02654	T	1	-0.5164	3.7284	0.08484	0.7055:0.0:0.1053:0.1892	.	146;146	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	T	146	ENSP00000356634:A146T;ENSP00000356633:A146T	ENSP00000356633:A146T	A	+	1	0	PAPPA2	174792517	1.000000	0.71417	0.957000	0.39632	0.681000	0.39784	2.050000	0.41297	0.149000	0.19098	-0.340000	0.08031	GCT		0.542	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			14	91	0	0	0	1	0	14	91				
EPPK1	83481	broad.mit.edu	37	8	144945386	144945386	+	Missense_Mutation	SNP	G	G	A	rs142055364	byFrequency	TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr8:144945386G>A	ENST00000525985.1	-	2	2107	c.2036C>T	c.(2035-2037)gCg>gTg	p.A679V				P58107	EPIPL_HUMAN	epiplakin 1	679						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCAGCTTCGCGAACACATC	0.602													G|||	6	0.00119808	0.0	0.0	5008	,	,		20104	0.005		0.0	False		,,,				2504	0.001					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2035-2037)gCg>gTg		epiplakin 1		G	VAL/ALA	1,4373		0,1,2186	50.0	51.0	51.0		2036	-0.7	0.0	8	dbSNP_134	51	0,8556		0,0,4278	yes	missense	EPPK1	NM_031308.1	64	0,1,6464	AA,AG,GG		0.0,0.0229,0.0077	benign	679/2420	144945386	1,12929	2187	4278	6465	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945386G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2036C>T	8.37:g.144945386G>A	ENSP00000436337:p.Ala679Val						p.A679V			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	2107	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		679					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.2036C>T		6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	4.460	0.085291	0.08583	2.29E-4	0.0	ENSG00000227184	ENST00000525985	T	0.72615	-0.67	5.06	-0.72	0.11195	.	.	.	.	.	T	0.41396	0.1157	N	0.22421	0.69	0.09310	N	1	B	0.26120	0.142	B	0.22386	0.039	T	0.23619	-1.0183	9	0.30078	T	0.28	.	4.9506	0.14011	0.1853:0.0:0.2833:0.5314	.	679	E9PPU0	.	V	679	ENSP00000436337:A679V	ENSP00000436337:A679V	A	-	2	0	EPPK1	145017374	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.359000	0.20233	0.009000	0.14813	-0.345000	0.07892	GCG		0.602	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		3	26	0	0	0	1	0	3	26				
OS9	10956	broad.mit.edu	37	12	58087892	58087892	+	5'Flank	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:58087892G>A	ENST00000315970.7	+	0	0				OS9_ENST00000552285.1_De_novo_Start_OutOfFrame|OS9_ENST00000389146.6_5'Flank|OS9_ENST00000439210.2_5'Flank|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_5'Flank|OS9_ENST00000413095.2_5'Flank|OS9_ENST00000551035.1_5'Flank|OS9_ENST00000389142.5_5'Flank|OS9_ENST00000257966.8_5'Flank	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin						ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGTTGAGGCCGCTGCCTGGCT	0.532											OREG0021950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000552285.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21								osteosarcoma amplified 9, endoplasmic reticulum lectin																																				SO:0001631	upstream_gene_variant	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58087892G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284		12.37:g.58087892G>A	Exception_encountered		OREG0021950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1028					Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		0	155	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)							A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Translation_Start_Site	SNP	ENST00000315970.7	37		CCDS31843.1																																																																																				0.532	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		3	34	0	0	0	1	0	3	34				
TRPM7	54822	broad.mit.edu	37	15	50905958	50905958	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:50905958C>T	ENST00000313478.7	-	15	1997	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	TRPM7_ENST00000560955.1_Silent_p.K572K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	572					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCATTTTTTCCTTTTTATCTG	0.368																																						ENST00000313478.7																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(1714-1716)aaG>aaA		transient receptor potential cation channel, subfamily M, member 7							114.0	100.0	104.0					15																	50905958		1843	4085	5928	SO:0001819	synonymous_variant	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50905958C>T	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.1716G>A	15.37:g.50905958C>T						TRPM7_ENST00000560955.1_Silent_p.K572K	p.K572K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	15	1997	-			572					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Silent	SNP	ENST00000313478.7	37	c.1716G>A	CCDS42035.1																																																																																				0.368	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	NM_017672		4	25	0	0	0	1	0	4	25				
PRPF40B	25766	broad.mit.edu	37	12	50035727	50035727	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:50035727G>A	ENST00000380281.1	+	18	1802	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K	PRPF40B_ENST00000261897.1_Missense_Mutation_p.E567K|FMNL3_ENST00000550668.1_5'Flank|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E602K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	580	FF 5.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACGGCCTTTGAGGACTTCGC	0.617																																						ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1699-1701)Gag>Aag		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							97.0	90.0	92.0					12																	50035727		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50035727G>A	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1738G>A	12.37:g.50035727G>A	ENSP00000369634:p.Glu580Lys					FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E602K|PRPF40B_ENST00000380281.1_Missense_Mutation_p.E580K	p.E567K			Q6NWY9	PR40B_HUMAN			18	2250	+			580					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1699G>A		.	.	.	.	.	.	.	.	.	.	G	29.8	5.034718	0.93575	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.29655	1.64;1.56	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000010	T	0.50120	0.1597	M	0.82823	2.61	0.80722	D	1	P;P;P	0.45126	0.609;0.729;0.851	B;P;P	0.49829	0.258;0.623;0.525	T	0.56733	-0.7930	10	0.59425	D	0.04	-21.2838	17.2809	0.87128	0.0:0.0:1.0:0.0	.	580;567;580	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	K	567;580	ENSP00000261897:E567K;ENSP00000369634:E580K	ENSP00000261897:E567K	E	+	1	0	PRPF40B	48321994	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.417000	0.97391	2.704000	0.92352	0.655000	0.94253	GAG		0.617	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		10	33	0	0	0	1	0	10	33				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	32	0	0	0	1	0	18	32				
SPTBN5	51332	broad.mit.edu	37	15	42153664	42153664	+	Missense_Mutation	SNP	G	G	A	rs375028833		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:42153664G>A	ENST00000320955.6	-	46	7995	c.7768C>T	c.(7768-7770)Cgt>Tgt	p.R2590C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2590					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAAAGCCAACGTTCCATCTTC	0.547																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(7768-7770)Cgt>Tgt		spectrin, beta, non-erythrocytic 5		G	CYS/ARG	1,4031		0,1,2015	72.0	75.0	74.0		7663	0.5	0.1	15		74	0,8354		0,0,4177	no	missense	SPTBN5	NM_016642.2	180	0,1,6192	AA,AG,GG		0.0,0.0248,0.0081	probably-damaging	2555/3640	42153664	1,12385	2016	4177	6193	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42153664G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.7768C>T	15.37:g.42153664G>A	ENSP00000317790:p.Arg2590Cys						p.R2590C	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	46	7995	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	2590						Missense_Mutation	SNP	ENST00000320955.6	37	c.7768C>T		.	.	.	.	.	.	.	.	.	.	.	12.35	1.910982	0.33721	2.48E-4	0.0	ENSG00000137877	ENST00000320955	T	0.50813	0.73	5.01	0.52	0.17040	.	0.521930	0.17433	N	0.174413	T	0.35248	0.0925	L	0.36672	1.1	0.31844	N	0.623152	D	0.54047	0.964	P	0.47075	0.536	T	0.44003	-0.9356	10	0.52906	T	0.07	.	1.7461	0.02962	0.2141:0.0852:0.2014:0.4994	.	2590	Q9NRC6	SPTN5_HUMAN	C	2590	ENSP00000317790:R2590C	ENSP00000317790:R2590C	R	-	1	0	SPTBN5	39940956	0.933000	0.31639	0.108000	0.21378	0.020000	0.10135	0.853000	0.27777	-0.127000	0.11661	-0.229000	0.12294	CGT		0.547	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		18	20	0	0	0	1	0	18	20				
RASGRF1	5923	broad.mit.edu	37	15	79292184	79292184	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:79292184C>T	ENST00000419573.3	-	18	2969	c.2695G>A	c.(2695-2697)Gcc>Acc	p.A899T	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.A883T|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A115T	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	899					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCGACAAGGCACTGCGGTTA	0.572																																						ENST00000419573.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2695-2697)Gcc>Acc		Ras protein-specific guanine nucleotide-releasing factor 1							144.0	119.0	127.0					15																	79292184		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79292184C>T	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.2695G>A	15.37:g.79292184C>T	ENSP00000405963:p.Ala899Thr					RASGRF1_ENST00000558480.2_Missense_Mutation_p.A883T|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A115T|RASGRF1_ENST00000560334.1_5'UTR	p.A899T	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN			18	2969	-			901					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.2695G>A	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213728	0.39102	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	T;T	0.63744	-0.06;-0.06	4.3	2.38	0.29361	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34513	0.0900	N	0.11201	0.11	0.37686	D	0.923654	B;B;B;B	0.11235	0.001;0.004;0.002;0.004	B;B;B;B	0.13407	0.002;0.004;0.004;0.009	T	0.07309	-1.0779	10	0.20046	T	0.44	.	4.233	0.10613	0.0:0.5984:0.1932:0.2084	.	295;883;901;883	B7Z6Z6;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	T	899;883;115	ENSP00000405963:A899T;ENSP00000378228:A115T	ENSP00000378224:A883T	A	-	1	0	RASGRF1	77079239	0.987000	0.35691	0.248000	0.24265	0.971000	0.66376	2.693000	0.47027	0.442000	0.26555	0.586000	0.80456	GCC		0.572	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891		28	34	0	0	0	1	0	28	34				
LARP7	51574	broad.mit.edu	37	4	113565994	113565994	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:113565994C>A	ENST00000344442.5	+	2	447	c.169C>A	c.(169-171)Ctt>Att	p.L57I	MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.L57I|LARP7_ENST00000509061.1_Missense_Mutation_p.L64I|MIR302B_ENST00000510655.1_RNA	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	57	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GGATAGATTTCTTCGAGAACA	0.343																																						ENST00000509061.1																			0				endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17						c.(190-192)Ctt>Att		La ribonucleoprotein domain family, member 7							81.0	78.0	79.0					4																	113565994		1816	4073	5889	SO:0001583	missense	51574				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr4:113565994C>A	AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.169C>A	4.37:g.113565994C>A	ENSP00000344950:p.Leu57Ile					LARP7_ENST00000344442.5_Missense_Mutation_p.L57I|LARP7_ENST00000324052.6_Missense_Mutation_p.L57I	p.L64I	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	4	493	+		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	57			HTH La-type RNA-binding.		B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	ENST00000344442.5	37	c.190C>A	CCDS3701.2	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930645	0.73327	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000508577;ENST00000505034;ENST00000324052;ENST00000507443	T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.17	4.31	0.51392	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.135481	0.52532	D	0.000079	D	0.86087	0.5849	M	0.92459	3.31	0.47441	D	0.999426	P;D	0.64830	0.73;0.994	P;D	0.65987	0.644;0.94	D	0.88947	0.3384	10	0.59425	D	0.04	-20.5495	14.1054	0.65085	0.0:0.9254:0.0:0.0746	.	57;57	D6RFF0;Q4G0J3	.;LARP7_HUMAN	I	57;64;57;57;57;57	ENSP00000344950:L57I;ENSP00000422626:L64I;ENSP00000426646:L57I;ENSP00000421541:L57I;ENSP00000314311:L57I;ENSP00000421963:L57I	ENSP00000314311:L57I	L	+	1	0	LARP7	113785443	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.953000	0.40352	2.396000	0.81511	0.644000	0.83932	CTT		0.343	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256417.2	NM_016648		16	50	1	0	1.45105e-14	1	1.52126e-14	16	50				
ITPKB	3707	broad.mit.edu	37	1	226924704	226924704	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:226924704C>T	ENST00000272117.3	-	1	455	c.456G>A	c.(454-456)gcG>gcA	p.A152A	ITPKB_ENST00000429204.1_Silent_p.A152A|ITPKB_ENST00000366784.1_Silent_p.A152A			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	152					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.A152A(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTGGATGTGCGCCTCAAACA	0.667																																					Colon(84;110 1851 5306 33547)	ENST00000429204.1																			1	Substitution - coding silent(1)	p.A152A(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30						c.(454-456)gcG>gcA		inositol-trisphosphate 3-kinase B							80.0	81.0	81.0					1																	226924704		2196	4283	6479	SO:0001819	synonymous_variant	3707						ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr1:226924704C>T	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.456G>A	1.37:g.226924704C>T						ITPKB_ENST00000272117.3_Silent_p.A152A|ITPKB_ENST00000366784.1_Silent_p.A152A	p.A152A	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN			2	783	-		Prostate(94;0.0773)	152					Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	Silent	SNP	ENST00000272117.3	37	c.456G>A	CCDS1555.1																																																																																				0.667	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091632.1	NM_002221		19	73	0	0	0	1	0	19	73				
TAAR8	83551	broad.mit.edu	37	6	132874313	132874313	+	Missense_Mutation	SNP	C	C	T	rs140382740		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr6:132874313C>T	ENST00000275200.1	+	1	482	c.482C>T	c.(481-483)aCg>aTg	p.T161M		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	161					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTGCCTCTCACGTACAGCGGT	0.488																																						ENST00000275200.1																			0				endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(481-483)aCg>aTg		trace amine associated receptor 8		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	315.0	296.0	302.0		482	-3.5	0.0	6	dbSNP_134	302	0,8600		0,0,4300	no	missense	TAAR8	NM_053278.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	161/343	132874313	1,13005	2203	4300	6503	SO:0001583	missense	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874313C>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.482C>T	6.37:g.132874313C>T	ENSP00000275200:p.Thr161Met						p.T161M	NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	482	+	Breast(56;0.112)		161					Q5VUQ0	Missense_Mutation	SNP	ENST00000275200.1	37	c.482C>T	CCDS5154.1	.	.	.	.	.	.	.	.	.	.	C	1.897	-0.454021	0.04540	2.27E-4	0.0	ENSG00000146385	ENST00000275200	T	0.37411	1.2	4.72	-3.48	0.04739	GPCR, rhodopsin-like superfamily (1);	0.669254	0.12627	N	0.452508	T	0.12433	0.0302	L	0.49778	1.585	0.09310	N	1	B	0.20052	0.041	B	0.23419	0.046	T	0.40534	-0.9558	10	0.52906	T	0.07	-1.8525	7.4945	0.27481	0.0:0.4138:0.1192:0.4669	.	161	Q969N4	TAAR8_HUMAN	M	161	ENSP00000275200:T161M	ENSP00000275200:T161M	T	+	2	0	TAAR8	132916006	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.354000	0.07681	-0.468000	0.06922	-1.110000	0.02074	ACG		0.488	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		8	218	0	0	0	1	0	8	218				
MYH15	22989	broad.mit.edu	37	3	108117645	108117645	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:108117645C>T	ENST00000273353.3	-	36	5088	c.5032G>A	c.(5032-5034)Gat>Aat	p.D1678N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1678						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCTTCAGATCACTGTTCAGT	0.522																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5032-5034)Gat>Aat		myosin, heavy chain 15							145.0	149.0	147.0					3																	108117645		2095	4225	6320	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108117645C>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5032G>A	3.37:g.108117645C>T	ENSP00000273353:p.Asp1678Asn						p.D1678N	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			36	5088	-			1678						Missense_Mutation	SNP	ENST00000273353.3	37	c.5032G>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483899	0.84854	.	.	ENSG00000144821	ENST00000273353	D	0.84070	-1.8	5.23	1.1	0.20463	Myosin tail (1);	.	.	.	.	D	0.83459	0.5259	L	0.60067	1.865	0.41158	D	0.986077	P	0.38863	0.65	P	0.51701	0.677	T	0.79619	-0.1728	9	0.72032	D	0.01	.	4.7492	0.13052	0.1231:0.6214:0.1192:0.1363	.	1678	Q9Y2K3	MYH15_HUMAN	N	1678	ENSP00000273353:D1678N	ENSP00000273353:D1678N	D	-	1	0	MYH15	109600335	0.786000	0.28738	0.533000	0.28001	0.906000	0.53458	2.030000	0.41108	0.151000	0.19162	0.655000	0.94253	GAT		0.522	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		10	140	0	0	0	1	0	10	140				
CFHR2	3080	broad.mit.edu	37	1	196871561	196871561	+	Intron	SNP	T	T	C			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:196871561T>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Silent_p.C23C|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Silent_p.C24C|CFHR4_ENST00000251424.4_Silent_p.C24C			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.C24*(1)|p.C23*(1)		large_intestine(2)|ovary(1)|skin(3)	6						TGAAACCTTGTGATTTTCCAG	0.279																																						ENST00000367416.2																			2	Substitution - Nonsense(2)	p.C24*(1)|p.C23*(1)	NS(2)	NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(67-69)tgT>tgC		complement factor H-related 4							83.0	83.0	83.0					1																	196871561		1835	4121	5956	SO:0001627	intron_variant	10877							g.chr1:196871561T>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-47024T>C	1.37:g.196871561T>C						CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Silent_p.C24C|CFHR2_ENST00000367421.3_Intron	p.C23C	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					2	206	+								Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37	c.69T>C																																																																																					0.279	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		6	96	0	0	0	1	0	6	96				
PIK3CA	5290	broad.mit.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		15	Substitution - Missense(13)|Deletion - In frame(2)	p.K111E(13)|p.K111_L113delKIL(2)	endometrium(8)|breast(2)|ovary(2)|large_intestine(1)|urinary_tract(1)|lung(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(331-333)Aag>Gag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							83.0	79.0	80.0					3																	178916944		1819	4069	5888	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916944A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.331A>G	3.37:g.178916944A>G	ENSP00000263967:p.Lys111Glu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.K111E	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	488	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		111					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.331A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522008	0.85600	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76448	0.86;-1.02	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	D	0.87742	0.2586	9	.	.	.	-23.7658	15.6301	0.76899	1.0:0.0:0.0:0.0	.	111	P42336	PK3CA_HUMAN	E	111	ENSP00000263967:K111E;ENSP00000417479:K111E	.	K	+	1	0	PIK3CA	180399638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.047000	0.76599	2.089000	0.63090	0.454000	0.30748	AAG		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			33	48	0	0	0	1	0	33	48				
SGK1	6446	broad.mit.edu	37	6	134491421	134491421	+	Silent	SNP	C	C	T	rs372966158		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr6:134491421C>T	ENST00000237305.7	-	12	1369	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	SGK1_ENST00000528577.1_Silent_p.T455T|SGK1_ENST00000489458.2_5'Flank|SGK1_ENST00000367858.5_Silent_p.T522T|SGK1_ENST00000367857.5_Silent_p.T417T|SGK1_ENST00000475719.2_Silent_p.T383T|SGK1_ENST00000413996.3_Silent_p.T441T	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	427	AGC-kinase C-terminal.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGAAAGAGTCCGTGGGAGGCG	0.527																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1564-1566)acG>acA		serum/glucocorticoid regulated kinase 1		C	,,,	0,4406		0,0,2203	59.0	63.0	62.0		1566,1365,1323,1281	4.4	1.0	6		62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SGK1	NM_001143676.1,NM_001143677.1,NM_001143678.1,NM_005627.3	,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,	522/527,455/460,441/446,427/432	134491421	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134491421C>T	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.1281G>A	6.37:g.134491421C>T						SGK1_ENST00000528577.1_Silent_p.T455T|SGK1_ENST00000237305.7_Silent_p.T427T|SGK1_ENST00000367857.5_Silent_p.T417T|SGK1_ENST00000413996.3_Silent_p.T441T|SGK1_ENST00000475719.2_Silent_p.T383T	p.T522T	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	14	2163	-	Colorectal(23;0.221)		427					B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.1566G>A	CCDS5170.1																																																																																				0.527	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			8	27	0	0	0	1	0	8	27				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	31	0	0	0	1	0	3	31				
GPR174	84636	broad.mit.edu	37	X	78427140	78427140	+	Silent	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chrX:78427140G>A	ENST00000276077.1	+	1	672	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTTTATCACTGCAAGATAAAT	0.438										HNSCC(63;0.18)																												ENST00000276077.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(634-636)ctG>ctA		G protein-coupled receptor 174							93.0	91.0	92.0					X																	78427140		2203	4300	6503	SO:0001819	synonymous_variant	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427140G>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.636G>A	X.37:g.78427140G>A		HNSCC(63;0.18)					p.L212L	NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN			1	672	+			212					Q2M3F7	Silent	SNP	ENST00000276077.1	37	c.636G>A	CCDS14443.1																																																																																				0.438	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		19	43	0	0	0	1	0	19	43				
NCF1	653361	broad.mit.edu	37	7	74193659	74193659	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:74193659G>A	ENST00000289473.4	+	4	356	c.286G>A	c.(286-288)Gag>Aag	p.E96K	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	96	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	CACACTTACCGAGTACTGCGG	0.642																																						ENST00000289473.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						c.(286-288)Gag>Aag		neutrophil cytosolic factor 1							31.0	18.0	23.0					7																	74193659		2171	4249	6420	SO:0001583	missense	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74193659G>A	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.286G>A	7.37:g.74193659G>A	ENSP00000289473:p.Glu96Lys					NCF1_ENST00000443956.3_3'UTR	p.E96K	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN			4	356	+			96			PX.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.286G>A	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.953871	0.53293	.	.	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000471594;ENST00000442021	T;T;T	0.39787	1.06;1.06;1.06	3.38	3.38	0.38709	Phox homologous domain (5);	0.446978	0.25436	N	0.030691	T	0.52853	0.1760	L	0.58101	1.795	0.58432	D	0.999997	D;D	0.71674	0.998;0.989	P;P	0.55965	0.542;0.788	T	0.58719	-0.7587	10	0.56958	D	0.05	-23.2933	14.1418	0.65325	0.0:0.0:1.0:0.0	.	96;96	P14598-2;P14598	.;NCF1_HUMAN	K	96;96;70;103	ENSP00000289473:E96K;ENSP00000392870:E96K;ENSP00000401935:E103K	ENSP00000289473:E96K	E	+	1	0	NCF1	73831595	1.000000	0.71417	0.100000	0.21137	0.137000	0.21094	7.240000	0.78192	1.631000	0.50456	0.442000	0.29010	GAG		0.642	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		4	6	0	0	0	1	0	4	6				
IFT140	9742	broad.mit.edu	37	16	1614053	1614053	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr16:1614053C>T	ENST00000426508.2	-	17	2375	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	671					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGGCTGGGAGCGCGGCGTCTC	0.582																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(2011-2013)cGc>cAc		intraflagellar transport 140 homolog (Chlamydomonas)							55.0	63.0	60.0					16																	1614053		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1614053C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.2012G>A	16.37:g.1614053C>T	ENSP00000406012:p.Arg671His					IFT140_ENST00000439987.2_5'UTR	p.R671H	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			17	2375	-		Hepatocellular(780;0.219)	671					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.2012G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025067	0.35701	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.58652	0.32	4.35	2.23	0.28157	.	0.381500	0.26987	N	0.021483	T	0.25680	0.0625	N	0.08118	0	0.09310	N	1	P;P	0.44521	0.837;0.818	B;B	0.33295	0.161;0.067	T	0.14699	-1.0463	10	0.42905	T	0.14	.	4.5526	0.12120	0.1875:0.6214:0.0:0.1911	.	671;396	Q96RY7;B4DR58	IF140_HUMAN;.	H	671	ENSP00000406012:R671H	ENSP00000380562:R671H	R	-	2	0	IFT140	1554054	0.000000	0.05858	0.013000	0.15412	0.013000	0.08279	0.945000	0.29056	2.135000	0.66039	0.467000	0.42956	CGC		0.582	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		19	49	0	0	0	1	0	19	49				
NRCAM	4897	broad.mit.edu	37	7	107823282	107823282	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:107823282G>A	ENST00000425651.2	-	20	2386	c.2387C>T	c.(2386-2388)aCa>aTa	p.T796I	NRCAM_ENST00000379024.4_Missense_Mutation_p.T777I|NRCAM_ENST00000413765.2_Missense_Mutation_p.T777I|NRCAM_ENST00000379022.4_Missense_Mutation_p.T796I|NRCAM_ENST00000351718.4_Missense_Mutation_p.T780I|NRCAM_ENST00000379028.3_Missense_Mutation_p.T796I	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	796	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AACCACAGATGTCCATTCATC	0.453																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(2386-2388)aCa>aTa		neuronal cell adhesion molecule							113.0	109.0	110.0					7																	107823282		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107823282G>A		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2387C>T	7.37:g.107823282G>A	ENSP00000401244:p.Thr796Ile					NRCAM_ENST00000351718.4_Missense_Mutation_p.T780I|NRCAM_ENST00000379022.4_Missense_Mutation_p.T796I|NRCAM_ENST00000379024.4_Missense_Mutation_p.T777I|NRCAM_ENST00000413765.2_Missense_Mutation_p.T777I|NRCAM_ENST00000425651.2_Missense_Mutation_p.T796I	p.T796I			Q92823	NRCAM_HUMAN			23	2857	-			796			Fibronectin type-III 2.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.2387C>T	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.701819	0.88924	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.9	5.9	0.94986	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.140350	0.64402	D	0.000005	T	0.69097	0.3073	L	0.53617	1.68	0.80722	D	1	D;D;D;D;P	0.67145	0.99;0.996;0.983;0.979;0.918	P;D;D;P;P	0.66497	0.865;0.944;0.917;0.865;0.609	T	0.66329	-0.5951	10	0.48119	T	0.1	.	20.27	0.98469	0.0:0.0:1.0:0.0	.	796;777;777;780;796	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	I	796;796;777;796;780;777;796;796	ENSP00000368314:T796I;ENSP00000407858:T777I;ENSP00000325269:T780I;ENSP00000368310:T777I;ENSP00000401244:T796I;ENSP00000368308:T796I	ENSP00000325269:T780I	T	-	2	0	NRCAM	107610518	1.000000	0.71417	0.997000	0.53966	0.856000	0.48823	6.504000	0.73704	2.790000	0.95986	0.650000	0.86243	ACA		0.453	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		30	40	0	0	0	1	0	30	40				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	32	0	0	0	1	0	3	32				
DZIP3	9666	broad.mit.edu	37	3	108353774	108353774	+	Silent	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:108353774C>T	ENST00000361582.3	+	10	1103	c.873C>T	c.(871-873)tgC>tgT	p.C291C	DZIP3_ENST00000463306.1_Silent_p.C291C	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATAAAATTTGCTGGAAAAAGT	0.308																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(871-873)tgC>tgT		DAZ interacting zinc finger protein 3							71.0	75.0	74.0					3																	108353774		2201	4295	6496	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108353774C>T	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.873C>T	3.37:g.108353774C>T						DZIP3_ENST00000463306.1_Silent_p.C291C	p.C291C	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			10	1103	+			291					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.873C>T	CCDS2952.1																																																																																				0.308	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		3	42	0	0	0	1	0	3	42				
WDR72	256764	broad.mit.edu	37	15	53908182	53908182	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:53908182C>T	ENST00000396328.1	-	15	2460	c.2221G>A	c.(2221-2223)Gca>Aca	p.A741T	WDR72_ENST00000559418.1_Missense_Mutation_p.A751T|WDR72_ENST00000557913.1_Missense_Mutation_p.A738T|WDR72_ENST00000360509.5_Missense_Mutation_p.A741T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	741										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTGGCTAGTGCCTCTGCTGAA	0.443																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(2221-2223)Gca>Aca		WD repeat domain 72							85.0	80.0	81.0					15																	53908182		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53908182C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2221G>A	15.37:g.53908182C>T	ENSP00000379619:p.Ala741Thr					WDR72_ENST00000559418.1_Missense_Mutation_p.A751T|WDR72_ENST00000557913.1_Missense_Mutation_p.A738T|WDR72_ENST00000360509.5_Missense_Mutation_p.A741T	p.A741T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2460	-			741					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2221G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084930	0.36758	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34859	1.34;1.34	5.63	0.398	0.16319	.	0.586886	0.17572	N	0.169439	T	0.17152	0.0412	L	0.27053	0.805	0.09310	N	1	B	0.32245	0.361	B	0.25140	0.058	T	0.22626	-1.0211	10	0.10902	T	0.67	.	6.6496	0.22955	0.0:0.6062:0.1221:0.2717	.	741	Q3MJ13	WDR72_HUMAN	T	741	ENSP00000379619:A741T;ENSP00000353699:A741T	ENSP00000353699:A741T	A	-	1	0	WDR72	51695474	0.000000	0.05858	0.253000	0.24343	0.781000	0.44180	0.079000	0.14782	0.299000	0.22661	0.563000	0.77884	GCA		0.443	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		9	35	0	0	0	1	0	9	35				
PLCB1	23236	broad.mit.edu	37	20	8678347	8678347	+	Missense_Mutation	SNP	C	C	A	rs199900846		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr20:8678347C>A	ENST00000338037.6	+	11	1111	c.1084C>A	c.(1084-1086)Ctg>Atg	p.L362M	PLCB1_ENST00000378637.2_Missense_Mutation_p.L362M|PLCB1_ENST00000378641.3_Missense_Mutation_p.L362M	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	362	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGTGTGGAGCTGGACTGCTG	0.483																																						ENST00000378641.3																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(1084-1086)Ctg>Atg		phospholipase C, beta 1 (phosphoinositide-specific)							216.0	186.0	196.0					20																	8678347		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8678347C>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.1084C>A	20.37:g.8678347C>A	ENSP00000338185:p.Leu362Met					PLCB1_ENST00000338037.6_Missense_Mutation_p.L362M|PLCB1_ENST00000378637.2_Missense_Mutation_p.L362M	p.L362M	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN			11	1559	+			362			PI-PLC X-box.		D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.1084C>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114104	0.77210	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.65732	-0.17;-0.17;-0.17	5.65	2.6	0.31112	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.070879	0.64402	D	0.000017	D	0.83170	0.5196	M	0.93939	3.475	0.50632	D	0.999883	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.86466	0.1782	10	0.87932	D	0	.	14.4414	0.67321	0.0:0.9:0.0:0.1	.	362;362	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	M	362;362;362;282;282	ENSP00000367908:L362M;ENSP00000338185:L362M;ENSP00000367904:L362M	ENSP00000338185:L362M	L	+	1	2	PLCB1	8626347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.218000	0.51192	0.266000	0.21894	0.655000	0.94253	CTG		0.483	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			4	98	1	0	0.150653	1	0.150653	4	98				
AHNAK	79026	broad.mit.edu	37	11	62298554	62298554	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr11:62298554G>A	ENST00000378024.4	-	5	3609	c.3335C>T	c.(3334-3336)gCa>gTa	p.A1112V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1112					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCTGGTGCTTTAATATC	0.488																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3334-3336)gCa>gTa		AHNAK nucleoprotein							115.0	117.0	116.0					11																	62298554		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298554G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3335C>T	11.37:g.62298554G>A	ENSP00000367263:p.Ala1112Val					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.A1112V	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	3609	-		Melanoma(852;0.155)	1112					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3335C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	2.905	-0.226689	0.06022	.	.	ENSG00000124942	ENST00000378024	T	0.00912	5.55	4.74	2.83	0.33086	.	0.643585	0.12729	N	0.444035	T	0.00815	0.0027	N	0.25890	0.77	0.09310	N	1	B	0.28233	0.204	B	0.25140	0.058	T	0.49698	-0.8912	10	0.25751	T	0.34	-15.0649	5.3584	0.16073	0.2133:0.0:0.6323:0.1545	.	1112	Q09666	AHNK_HUMAN	V	1112	ENSP00000367263:A1112V	ENSP00000367263:A1112V	A	-	2	0	AHNAK	62055130	0.000000	0.05858	0.618000	0.29105	0.160000	0.22226	-1.188000	0.03064	0.414000	0.25790	0.550000	0.68814	GCA		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		23	120	0	0	0	1	0	23	120				
CLTC	1213	broad.mit.edu	37	17	57744174	57744174	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:57744174T>G	ENST00000269122.3	+	13	2238	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	CLTC_ENST00000393043.1_Missense_Mutation_p.F655C|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	655	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTCAACTACTTTGGTTCCTTA	0.363			T	"""ALK, TFE3"""	"""ALCL, renal """																																	ENST00000269122.3				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	"""ALK, TFE3"""		"""ALCL, renal """	CLTC/ALK(44)|CLTC/TFE3(2)	0				breast(2)|large_intestine(6)|ovary(1)	9						c.(1963-1965)tTt>tGt		clathrin, heavy chain (Hc)							73.0	69.0	71.0					17																	57744174		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57744174T>G	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.1964T>G	17.37:g.57744174T>G	ENSP00000269122:p.Phe655Cys					CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.F655C	p.F655C	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN			13	2238	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		655			Heavy chain arm.|Proximal segment.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.1964T>G	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.512690	0.85389	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.26067	1.76;1.76	5.84	5.84	0.93424	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.997	T	0.75196	-0.3403	10	0.87932	D	0	.	16.226	0.82293	0.0:0.0:0.0:1.0	.	655;655	Q00610;Q00610-2	CLH1_HUMAN;.	C	655	ENSP00000269122:F655C;ENSP00000376763:F655C	ENSP00000269122:F655C	F	+	2	0	CLTC	55098956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.230000	0.72887	0.528000	0.53228	TTT		0.363	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		19	31	0	0	0	1	0	19	31				
SFSWAP	6433	broad.mit.edu	37	12	132262624	132262624	+	Silent	SNP	G	G	A	rs202167599		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:132262624G>A	ENST00000261674.4	+	14	2298	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	SFSWAP_ENST00000541286.1_Silent_p.T719T	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	719					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CCAGCACTACGCCCTGCCCTC	0.448																																						ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2155-2157)acG>acA		splicing factor, suppressor of white-apricot homolog (Drosophila)							46.0	50.0	48.0					12																	132262624		2203	4300	6503	SO:0001819	synonymous_variant	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132262624G>A	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2157G>A	12.37:g.132262624G>A						SFSWAP_ENST00000541286.1_Silent_p.T719T	p.T719T	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			14	2298	+			719					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Silent	SNP	ENST00000261674.4	37	c.2157G>A	CCDS9273.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.384436	0.01194	.	.	ENSG00000061936	ENST00000537164	.	.	.	5.73	1.89	0.25635	.	.	.	.	.	T	0.36552	0.0971	.	.	.	0.25686	N	0.985747	.	.	.	.	.	.	T	0.24154	-1.0168	4	.	.	.	-1.5749	10.0781	0.42373	0.3567:0.0:0.6433:0.0	.	.	.	.	H	282	.	.	R	+	2	0	SFSWAP	130828577	0.000000	0.05858	0.064000	0.19789	0.013000	0.08279	0.130000	0.15850	0.079000	0.16929	-0.137000	0.14449	CGC		0.448	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		10	29	0	0	0	1	0	10	29				
CCL16	6360	broad.mit.edu	37	17	34304693	34304693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:34304693G>A	ENST00000293275.3	-	3	347	c.272C>T	c.(271-273)cCc>cTc	p.P91L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	91					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTAGGTTGGGATCCTTGAT	0.507																																						ENST00000293275.3																			0				endometrium(1)|lung(2)	3						c.(271-273)cCc>cTc		chemokine (C-C motif) ligand 16							226.0	198.0	207.0					17																	34304693		2203	4300	6503	SO:0001583	missense	6360				cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity	g.chr17:34304693G>A	AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"""Chemokine ligands"", ""Endogenous ligands"""	10614	protein-coding gene	gene with protein product		601394	"""small inducible cytokine subfamily A (Cys-Cys), member 16"""	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.272C>T	17.37:g.34304693G>A	ENSP00000293275:p.Pro91Leu						p.P91L	NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	347	-		Ovarian(249;0.17)	91					Q4KKU0	Missense_Mutation	SNP	ENST00000293275.3	37	c.272C>T	CCDS11303.1	.	.	.	.	.	.	.	.	.	.	G	7.193	0.591864	0.13812	.	.	ENSG00000161573	ENST00000293275	T	0.02525	4.26	4.93	4.93	0.64822	Chemokine interleukin-8-like domain (2);	0.480576	0.15855	N	0.241285	T	0.01765	0.0056	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.15052	0.012	T	0.41052	-0.9530	10	0.02654	T	1	.	13.5031	0.61469	0.0:0.0:1.0:0.0	.	91	O15467	CCL16_HUMAN	L	91	ENSP00000293275:P91L	ENSP00000293275:P91L	P	-	2	0	CCL16	31328806	0.942000	0.31987	0.059000	0.19551	0.704000	0.40688	3.812000	0.55628	2.566000	0.86566	0.561000	0.74099	CCC		0.507	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256579.1	NM_004590		30	87	0	0	0	1	0	30	87				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	62	0	0	0	1	0	3	62				
ZNF574	64763	broad.mit.edu	37	19	42584408	42584408	+	Silent	SNP	C	C	G			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr19:42584408C>G	ENST00000600245.1	+	2	2305	c.1650C>G	c.(1648-1650)ccC>ccG	p.P550P	ZNF574_ENST00000222339.7_Silent_p.P640P|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Silent_p.P550P			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GAGAGCGGCCCTACCGGTGTG	0.647																																						ENST00000600245.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1648-1650)ccC>ccG		zinc finger protein 574							89.0	96.0	93.0					19																	42584408		2203	4300	6503	SO:0001819	synonymous_variant	64763				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:42584408C>G	AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1650C>G	19.37:g.42584408C>G						ZNF574_ENST00000222339.7_Silent_p.P640P|ZNF574_ENST00000359044.4_Silent_p.P550P	p.P550P			Q6ZN55	ZN574_HUMAN			2	2305	+		Prostate(69;0.059)	550					Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Silent	SNP	ENST00000600245.1	37	c.1650C>G	CCDS12596.1																																																																																				0.647	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1	NM_022752		51	25	0	0	0	1	0	51	25				
CHST15	51363	broad.mit.edu	37	10	125804102	125804102	+	Missense_Mutation	SNP	G	G	A	rs559698999		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr10:125804102G>A	ENST00000346248.5	-	3	1522	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000435907.1_Missense_Mutation_p.R294C|CHST15_ENST00000421115.1_Missense_Mutation_p.R294C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	294					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCACCAAAGCGCTTCCGGGTC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16037	0.001		0.0	False		,,,				2504	0.0					ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(880-882)Cgc>Tgc		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							27.0	29.0	28.0					10																	125804102		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125804102G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.880C>T	10.37:g.125804102G>A	ENSP00000333947:p.Arg294Cys					CHST15_ENST00000421115.1_Missense_Mutation_p.R294C|CHST15_ENST00000435907.1_Missense_Mutation_p.R294C	p.R294C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			3	1522	-			294					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.880C>T	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172927	0.78452	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	T;T;T	0.56611	0.45;0.45;0.45	5.65	4.69	0.59074	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.65176	0.2666	L	0.47716	1.5	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.982	T	0.66670	-0.5865	10	0.59425	D	0.04	-32.5844	13.393	0.60834	0.0:0.0:0.8085:0.1915	.	294;294	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	C	294	ENSP00000333947:R294C;ENSP00000402394:R294C;ENSP00000412477:R294C	ENSP00000333947:R294C	R	-	1	0	CHST15	125794092	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	3.429000	0.52800	1.200000	0.43188	0.655000	0.94253	CGC		0.637	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		6	9	0	0	0	1	0	6	9				
ZNF563	147837	broad.mit.edu	37	19	12430201	12430201	+	Missense_Mutation	SNP	C	C	T	rs113773973	byFrequency	TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr19:12430201C>T	ENST00000293725.5	-	4	843	c.638G>A	c.(637-639)cGt>cAt	p.R213H	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	213					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCATGCATACGTAATAAACT	0.393																																					GBM(39;623 795 5132 29510 31476)	ENST00000293725.5																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(637-639)cGt>cAt		zinc finger protein 563		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	127.0	126.0		638	-2.0	0.0	19	dbSNP_132	126	0,8600		0,0,4300	no	missense	ZNF563	NM_145276.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	213/477	12430201	1,13005	2203	4300	6503	SO:0001583	missense	147837				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12430201C>T	BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.638G>A	19.37:g.12430201C>T	ENSP00000293725:p.Arg213His					ZNF563_ENST00000595977.1_Intron	p.R213H	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN			4	843	-			213					B2R9E7|Q8NAT7	Missense_Mutation	SNP	ENST00000293725.5	37	c.638G>A	CCDS12270.1	.	.	.	.	.	.	.	.	.	.	C	4.308	0.056402	0.08291	2.27E-4	0.0	ENSG00000188868	ENST00000293725	T	0.08102	3.13	1.0	-2.0	0.07433	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06050	0.0157	L	0.45422	1.42	0.09310	N	1	B	0.19706	0.038	B	0.12837	0.008	T	0.39860	-0.9593	9	0.35671	T	0.21	.	2.2724	0.04094	0.4105:0.2415:0.0:0.348	.	213	Q8TA94	ZN563_HUMAN	H	213	ENSP00000293725:R213H	ENSP00000293725:R213H	R	-	2	0	ZNF563	12291201	0.000000	0.05858	0.001000	0.08648	0.164000	0.22412	-0.599000	0.05700	-0.683000	0.05190	0.313000	0.20887	CGT		0.393	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276		55	77	0	0	0	1	0	55	77				
MYH2	4620	broad.mit.edu	37	17	10432210	10432210	+	Missense_Mutation	SNP	G	G	A	rs201768483		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:10432210G>A	ENST00000245503.5	-	27	3925	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1181					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCCTGCGCATTTTCTGG	0.592																																						ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3541-3543)Cgc>Tgc		myosin, heavy chain 2, skeletal muscle, adult							72.0	78.0	76.0					17																	10432210		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432210G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3541C>T	17.37:g.10432210G>A	ENSP00000245503:p.Arg1181Cys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C	p.R1181C	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3925	-			1181					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3541C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395488	0.62066	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.84070	-1.8;-1.8	5.18	5.18	0.71444	Myosin tail (1);	0.000000	0.40144	U	0.001162	D	0.94138	0.8120	H	0.98027	4.13	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	D	0.95556	0.8625	10	0.87932	D	0	.	13.8114	0.63266	0.0:0.0:0.847:0.153	.	1181	Q9UKX2	MYH2_HUMAN	C	1181	ENSP00000245503:R1181C;ENSP00000380367:R1181C	ENSP00000245503:R1181C	R	-	1	0	MYH2	10372935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.020000	0.64066	2.707000	0.92482	0.655000	0.94253	CGC		0.592	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		26	125	0	0	0	1	0	26	125				
SRM	6723	broad.mit.edu	37	1	11115092	11115092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:11115092G>A	ENST00000376957.2	-	7	895	c.815C>T	c.(814-816)gCg>gTg	p.A272V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	272					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	CTGCATCTGCGCCACCTGCTG	0.632																																						ENST00000376957.2																			0				large_intestine(1)|lung(1)|urinary_tract(1)	3						c.(814-816)gCg>gTg		spermidine synthase	S-Adenosylmethionine(DB00118)|Spermine(DB00127)						39.0	42.0	41.0					1																	11115092		2203	4300	6503	SO:0001583	missense	6723				spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity	g.chr1:11115092G>A	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.815C>T	1.37:g.11115092G>A	ENSP00000366156:p.Ala272Val						p.A272V	NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	7	895	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	272					B1AKP9|Q15511	Missense_Mutation	SNP	ENST00000376957.2	37	c.815C>T	CCDS125.1	.	.	.	.	.	.	.	.	.	.	G	8.434	0.849234	0.17034	.	.	ENSG00000116649	ENST00000376957	T	0.76186	-1.0	5.29	2.83	0.33086	.	0.211095	0.47852	D	0.000202	T	0.53400	0.1794	L	0.27053	0.805	0.25713	N	0.985464	B	0.30851	0.297	B	0.15870	0.014	T	0.37596	-0.9699	10	0.27785	T	0.31	.	7.4297	0.27120	0.137:0.0:0.1549:0.7081	.	272	P19623	SPEE_HUMAN	V	272	ENSP00000366156:A272V	ENSP00000366156:A272V	A	-	2	0	SRM	11037679	0.991000	0.36638	0.511000	0.27724	0.031000	0.12232	2.221000	0.42917	0.851000	0.35264	-0.397000	0.06425	GCG		0.632	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132		22	7	0	0	0	1	0	22	7				
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	lincRNA	DEL	G	G	-	rs370329361		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393																																						ENST00000441803.1																			0																																																			0							g.chr2:217475010delG																													2.37:g.217475010delG														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.393	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			2	4						2	4	---	---	---	---
ANTXR2	118429	broad.mit.edu	37	4	80905990	80905990	+	Frame_Shift_Del	DEL	C	C	-	rs386676514|rs12647691|rs556120147	byFrequency	TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:80905990delC	ENST00000307333.7	-	13	1071	c.1069delG	c.(1069-1071)gccfs	p.A357fs	ANTXR2_ENST00000403729.2_Frame_Shift_Del_p.A357fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.A280fs|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.A254fs	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	357	Poly-Pro.		A -> P (in dbSNP:rs12647691). {ECO:0000269|PubMed:11683410, ECO:0000269|PubMed:12700348, ECO:0000269|PubMed:14508707, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						GGTGCAGGGGCGGGTGGTGGT	0.348									Juvenile Hyaline Fibromatosis					5	0.000998403	0.0015	0.0014	5008	,	,		13171	0.0		0.0	False		,,,				2504	0.002					ENST00000403729.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(1069-1071)ccfs		anthrax toxin receptor 2							67.0	70.0	69.0					4																	80905990		1794	4063	5857	SO:0001589	frameshift_variant	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80905990delC	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.1069delG	4.37:g.80905990delC	ENSP00000306185:p.Ala357fs					ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.A357fs|ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.A280fs|ANTXR2_ENST00000346652.6_Frame_Shift_Del_p.A254fs	p.A357fs	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN			13	1594	-			357		A -> P (in dbSNP:rs12647691).	Poly-Pro.		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Frame_Shift_Del	DEL	ENST00000307333.7	37	c.1069delG	CCDS47086.1																																																																																				0.348	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		4	9						4	9	---	---	---	---
LRRN4	164312	broad.mit.edu	37	20	6033401	6033401	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr20:6033401delG	ENST00000378858.4	-	2	269	c.45delC	c.(43-45)cccfs	p.P15fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	15					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGCCCAGCTGGGGCGCAGCA	0.682																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(43-45)ccfs		leucine rich repeat neuronal 4							5.0	7.0	6.0					20																	6033401		2143	4225	6368	SO:0001589	frameshift_variant	164312					integral to membrane		g.chr20:6033401delG	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.45delC	20.37:g.6033401delG	ENSP00000368135:p.Pro15fs						p.P15fs	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			2	269	-			15					A8K258|Q5JWV6|Q9H419	Frame_Shift_Del	DEL	ENST00000378858.4	37	c.45delC	CCDS13097.1																																																																																				0.682	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		2	4						2	4	---	---	---	---
HDX	139324	broad.mit.edu	37	X	83730327	83730331	+	Frame_Shift_Del	DEL	TTTGA	TTTGA	-			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chrX:83730327_83730331delTTTGA	ENST00000297977.5	-	2	186_190	c.75_79delTCAAA	c.(73-81)aatcaaagtfs	p.NQS25fs	HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Frame_Shift_Del_p.NQS25fs	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	25						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CAATTTTTACTTTGATTTGTCATTC	0.327																																					Pancreas(53;231 1169 36156 43751 51139)	ENST00000297977.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(73-81)aagtfs		highly divergent homeobox																																				SO:0001589	frameshift_variant	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83730327_83730331delTTTGA	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.75_79delTCAAA	X.37:g.83730327_83730331delTTTGA	ENSP00000297977:p.Asn25fs					HDX_ENST00000373177.2_Frame_Shift_Del_p.NQS25fs|HDX_ENST00000506585.2_Intron	p.NQS25fs	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN			2	186_190	-			25					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Frame_Shift_Del	DEL	ENST00000297977.5	37	c.75_79delTCAAA	CCDS35342.1																																																																																				0.327	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		8	28						8	28	---	---	---	---
