#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
IL9R	3581	broad.mit.edu	37	X	155227436	155227436	+	Silent	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:155227436C>A	ENST00000244174.5	+	1	191	c.12C>A	c.(10-12)ggC>ggA	p.G4G	IL9R_ENST00000540897.1_5'UTR|IL9R_ENST00000369423.2_Missense_Mutation_p.Q10K|IL9R_ENST00000424344.3_5'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	4					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGGACTGGGCAGATGCATCT	0.542																																						ENST00000369423.2																			0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(28-30)Cag>Aag		interleukin 9 receptor							381.0	343.0	356.0					X																	155227436		2203	4296	6499	SO:0001819	synonymous_variant	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155227436C>A	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.12C>A	X.37:g.155227436C>A						IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000244174.5_Silent_p.G4G|IL9R_ENST00000540897.1_5'UTR	p.Q10K			Q01113	IL9R_HUMAN			1	66	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		0					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.28C>A	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	c	11.74	1.730162	0.30684	.	.	ENSG00000124334	ENST00000369423	T	0.24151	1.87	1.4	0.437	0.16555	.	.	.	.	.	T	0.16938	0.0407	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.26643	-1.0097	8	0.87932	D	0	.	4.3158	0.10993	0.3912:0.6088:0.0:0.0	.	10	B9ZVT0	.	K	10	ENSP00000358431:Q10K	ENSP00000358431:Q10K	Q	+	1	0	IL9R	154880630	0.014000	0.17966	0.001000	0.08648	0.790000	0.44656	0.526000	0.22971	0.069000	0.16605	0.279000	0.19357	CAG		0.542	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		10	81	1	0	1.58986e-06	0.361761	1.87194e-06	10	81				
OR5B2	390190	broad.mit.edu	37	11	58189994	58189994	+	Silent	SNP	G	G	T	rs150284257		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:58189994G>T	ENST00000302581.2	-	1	792	c.741C>A	c.(739-741)tcC>tcA	p.S247S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CATAGAAGACGGAGACTGCAG	0.463																																						ENST00000302581.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(739-741)tcC>tcA		olfactory receptor, family 5, subfamily B, member 2							128.0	117.0	121.0					11																	58189994		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58189994G>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.741C>A	11.37:g.58189994G>T							p.S247S	NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN			1	792	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	247					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.741C>A	CCDS31550.1																																																																																				0.463	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		9	46	1	0	0.000274275	0.307466	0.000305681	9	46				
GAB3	139716	broad.mit.edu	37	X	153924265	153924265	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:153924265C>A	ENST00000369575.3	-	8	1485	c.1454G>T	c.(1453-1455)aGa>aTa	p.R485I	GAB3_ENST00000424127.2_Missense_Mutation_p.R486I|GAB3_ENST00000496390.1_5'UTR	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	485					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATACCATTTCTTTCTGGAGA	0.373																																						ENST00000369575.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25						c.(1453-1455)aGa>aTa		GRB2-associated binding protein 3							62.0	55.0	57.0					X																	153924265		2203	4300	6503	SO:0001583	missense	139716							g.chrX:153924265C>A	AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1454G>T	X.37:g.153924265C>A	ENSP00000358588:p.Arg485Ile					GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.R486I	p.R485I	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN			8	1485	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		485					A6NHF8|E9PB44	Missense_Mutation	SNP	ENST00000369575.3	37	c.1454G>T	CCDS14760.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465954	0.84425	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.24723	1.84;1.84;1.84	5.44	5.44	0.79542	.	0.430961	0.26394	N	0.024629	T	0.49643	0.1569	M	0.84846	2.72	0.58432	D	0.999995	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.59288	0.855;0.855;0.855	T	0.50915	-0.8771	10	0.24483	T	0.36	-23.7068	15.5927	0.76550	0.0:1.0:0.0:0.0	.	486;486;485	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	I	485;486;486	ENSP00000358588:R485I;ENSP00000358581:R486I;ENSP00000399588:R486I	ENSP00000358581:R486I	R	-	2	0	GAB3	153577459	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.683000	0.54663	2.277000	0.76020	0.513000	0.50165	AGA		0.373	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061192.2	NM_001081573		14	78	1	0	3.35478e-16	0.479597	4.15082e-16	14	78				
SLC5A11	115584	broad.mit.edu	37	16	24921693	24921693	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:24921693G>A	ENST00000347898.3	+	15	2339	c.1717G>A	c.(1717-1719)Gct>Act	p.A573T	SLC5A11_ENST00000545376.1_Missense_Mutation_p.A503T|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A503T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A509T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A417T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A538T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A538T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A509T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A417T	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		ACCACCAGCAGCTCCCTTGTC	0.542																																						ENST00000347898.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1717-1719)Gct>Act		solute carrier family 5 (sodium/inositol cotransporter), member 11							149.0	127.0	134.0					16																	24921693		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921693G>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1717G>A	16.37:g.24921693G>A	ENSP00000289932:p.Ala573Thr					SLC5A11_ENST00000568579.1_Missense_Mutation_p.A503T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.A417T|SLC5A11_ENST00000449109.2_Missense_Mutation_p.A417T|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A503T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A509T|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A538T|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A509T|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A538T	p.A573T	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	15	2339	+			573						Missense_Mutation	SNP	ENST00000347898.3	37	c.1717G>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	G	6.159	0.397500	0.11638	.	.	ENSG00000158865	ENST00000347898;ENST00000449109;ENST00000424767;ENST00000545376;ENST00000539472	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	4.14	-1.25	0.09405	.	2.766910	0.00792	N	0.001352	T	0.40522	0.1120	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.0	T	0.11518	-1.0584	10	0.15499	T	0.54	.	3.6054	0.08041	0.3369:0.0:0.4429:0.2201	.	503;538;573;417	B7Z329;Q8WWX8-2;Q8WWX8;Q05BF1	.;.;SC5AB_HUMAN;.	T	573;417;538;503;509	ENSP00000289932:A573T;ENSP00000389606:A417T;ENSP00000416782:A538T;ENSP00000441384:A503T;ENSP00000441018:A509T	ENSP00000289932:A573T	A	+	1	0	SLC5A11	24829194	0.000000	0.05858	0.060000	0.19600	0.047000	0.14425	-0.232000	0.09055	-0.120000	0.11809	-0.492000	0.04666	GCT		0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		25	119	0	0	0	0.681144	0	25	119				
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	rs587780070		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)	skin(28)|upper_aerodigestive_tract(27)|large_intestine(27)|lung(27)|breast(18)|haematopoietic_and_lymphoid_tissue(11)|oesophagus(11)|central_nervous_system(8)|ovary(8)|stomach(7)|liver(7)|bone(5)|urinary_tract(3)|soft_tissue(2)|pancreas(2)|cervix(1)|vulva(1)|eye(1)|kidney(1)|endometrium(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM067054	TP53	M		c.(535-537)Cat>Tat	Other conserved DNA damage response genes	tumor protein p53							47.0	47.0	47.0					17																	7578395		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578395G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.535C>T	17.37:g.7578395G>A	ENSP00000269305:p.His179Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y	p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	179		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.535C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	58	0	0	0	0.520397	0	15	58				
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000361570.3_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|E -> K (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1343	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(9)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(150)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CD972119	CDKN2A	D		c.(358-360)Gag>Tag		cyclin-dependent kinase inhibitor 2A							24.0	27.0	26.0					9																	21971000		2202	4298	6500	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971000C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.358G>T	9.37:g.21971000C>A	ENSP00000307101:p.Glu120*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000530628.2_3'UTR	p.E120*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	628	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	120		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.358G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.320898	0.97471	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.0988	14.364	0.66792	0.0:0.8518:0.1482:0.0	.	.	.	.	X	120	.	ENSP00000307101:E120X	E	-	1	0	CDKN2A	21961000	0.585000	0.26774	1.000000	0.80357	0.613000	0.37349	1.323000	0.33701	1.489000	0.48450	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		21	31	1	0	1.87028e-06	0.608945	2.18449e-06	21	31				
ADIPOR2	79602	broad.mit.edu	37	12	1889793	1889793	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:1889793C>T	ENST00000357103.4	+	5	891	c.640C>T	c.(640-642)Ctc>Ttc	p.L214F		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	214					adiponectin-activated signaling pathway (GO:0033211)|fatty acid oxidation (GO:0019395)|female pregnancy (GO:0007565)|heart development (GO:0007507)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of cell growth (GO:0030308)|positive regulation of glucose import (GO:0046326)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|receptor activity (GO:0004872)			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			GGTCTCTCGGCTCTTCTCTAA	0.428																																						ENST00000357103.4																			0				endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12						c.(640-642)Ctc>Ttc		adiponectin receptor 2							127.0	131.0	130.0					12																	1889793		2203	4300	6503	SO:0001583	missense	79602				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	g.chr12:1889793C>T	AY424280	CCDS8511.1	12p13	2012-08-22			ENSG00000006831	ENSG00000006831		"""GPCR / Unclassified : Adiponectin receptors"""	24041	protein-coding gene	gene with protein product		607946				12802337	Standard	NM_024551		Approved	PAQR2, ACDCR2	uc001qjm.3	Q86V24	OTTHUMG00000130139	ENST00000357103.4:c.640C>T	12.37:g.1889793C>T	ENSP00000349616:p.Leu214Phe						p.L214F	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000382)		5	891	+	Ovarian(42;0.107)		214					Q53YY5|Q9H737	Missense_Mutation	SNP	ENST00000357103.4	37	c.640C>T	CCDS8511.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468586	0.43839	.	.	ENSG00000006831	ENST00000357103	T	0.28454	1.61	5.79	-0.0787	0.13714	.	0.240983	0.42294	D	0.000735	T	0.24122	0.0584	L	0.42529	1.33	0.41098	D	0.985641	B	0.25850	0.136	B	0.31442	0.13	T	0.08106	-1.0738	10	0.18710	T	0.47	-9.6208	11.6803	0.51453	0.4671:0.368:0.1649:0.0	.	214	Q86V24	ADR2_HUMAN	F	214	ENSP00000349616:L214F	ENSP00000349616:L214F	L	+	1	0	ADIPOR2	1760054	0.102000	0.21896	0.881000	0.34555	0.972000	0.66771	0.223000	0.17719	0.065000	0.16485	-0.152000	0.13540	CTC		0.428	ADIPOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252447.2	NM_024551		54	258	0	0	0	0.870114	0	54	258				
HDAC7	51564	broad.mit.edu	37	12	48179336	48179336	+	Intron	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:48179336C>T	ENST00000427332.2	-	24	2746				HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000380610.4_Intron|HDAC7_ENST00000080059.7_Intron|AC004466.1_ENST00000599515.1_Silent_p.F140F|HDAC7_ENST00000354334.3_Intron			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7						cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCCCAGCCTTCTAGCCACAAG	0.577																																						ENST00000599515.1																			0											c.(418-420)ttC>ttT																																						SO:0001627	intron_variant	51564							g.chr12:48179336C>T	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2590-82G>A	12.37:g.48179336C>T						HDAC7_ENST00000380610.4_Intron|HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000427332.2_Intron|HDAC7_ENST00000354334.3_Intron|HDAC7_ENST00000080059.7_Intron	p.F140F							1	631	+								B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Silent	SNP	ENST00000427332.2	37	c.420C>T																																																																																					0.577	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2			4	9	0	0	0	0.557998	0	4	9				
LVRN	206338	broad.mit.edu	37	5	115298653	115298653	+	Silent	SNP	G	G	A	rs370148178		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:115298653G>A	ENST00000357872.4	+	1	463	c.339G>A	c.(337-339)ccG>ccA	p.P113P	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		113						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AGCTGTGGCCGCAGCTGAGGC	0.701																																						ENST00000357872.4																			0											c.(337-339)ccG>ccA				G		1,4403		0,1,2201	38.0	44.0	42.0		339	-2.6	0.6	5		42	0,8594		0,0,4297	no	coding-synonymous	AQPEP	NM_173800.4		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		113/991	115298653	1,12997	2202	4297	6499	SO:0001819	synonymous_variant	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115298653G>A																												ENST00000357872.4:c.339G>A	5.37:g.115298653G>A						AQPEP_ENST00000395528.2_5'UTR	p.P113P	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN			1	463	+			113					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	ENST00000357872.4	37	c.339G>A	CCDS4124.1																																																																																				0.701	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			6	79	0	0	0	0.248553	0	6	79				
RIMS2	9699	broad.mit.edu	37	8	105161040	105161040	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:105161040C>T	ENST00000436393.2	+	23	3593	c.3352C>T	c.(3352-3354)Cgg>Tgg	p.R1118W	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTCTGTCACGGAAAAGTCG	0.463										HNSCC(12;0.0054)																												ENST00000436393.2																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(3352-3354)Cgg>Tgg		regulating synaptic membrane exocytosis 2							130.0	123.0	125.0					8																	105161040		876	1991	2867	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105161040C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3352C>T	8.37:g.105161040C>T	ENSP00000390665:p.Arg1118Trp	HNSCC(12;0.0054)				RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron	p.R1118W			Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		23	3593	+			1157					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.3352C>T		.	.	.	.	.	.	.	.	.	.	C	17.94	3.510684	0.64522	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.19532	2.14;2.61	5.69	2.8	0.32819	.	.	.	.	.	T	0.48021	0.1477	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.53816	-0.8385	8	0.87932	D	0	.	15.1294	0.72511	0.5038:0.4962:0.0:0.0	.	1118	D6RA03	.	W	1107;1118	ENSP00000386228:R1107W;ENSP00000390665:R1118W	ENSP00000386228:R1107W	R	+	1	2	RIMS2	105230216	0.211000	0.23529	0.974000	0.42286	0.998000	0.95712	0.831000	0.27476	0.278000	0.22164	0.655000	0.94253	CGG		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		20	104	0	0	0	0.654019	0	20	104				
MYO18B	84700	broad.mit.edu	37	22	26168444	26168444	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:26168444G>T	ENST00000407587.2	+	7	2005	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	MYO18B_ENST00000335473.7_Missense_Mutation_p.Q612H|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q612H			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	612	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTGTCCTCCAGCCCCGGGGGC	0.637																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(1834-1836)caG>caT		myosin XVIIIB							39.0	41.0	40.0					22																	26168444		2013	4164	6177	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26168444G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.1836G>T	22.37:g.26168444G>T	ENSP00000386096:p.Gln612His					MYO18B_ENST00000407587.2_Missense_Mutation_p.Q612H|MYO18B_ENST00000536101.1_Missense_Mutation_p.Q612H	p.Q612H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			7	2086	+			612			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.1836G>T		.	.	.	.	.	.	.	.	.	.	G	13.56	2.272892	0.40194	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87179	-2.22;-2.22;-2.22	5.19	4.16	0.48862	Myosin head, motor domain (2);	0.263729	0.34700	N	0.003754	D	0.90421	0.7001	L	0.56769	1.78	0.31124	N	0.708526	D;D;D;D	0.76494	0.998;0.998;0.999;0.998	D;D;D;D	0.68943	0.929;0.961;0.952;0.935	D	0.88579	0.3135	10	0.72032	D	0.01	.	10.4175	0.44331	0.076:0.133:0.791:0.0	.	125;612;612;612	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	H	612	ENSP00000441229:Q612H;ENSP00000334563:Q612H;ENSP00000386096:Q612H	ENSP00000334563:Q612H	Q	+	3	2	MYO18B	24498444	1.000000	0.71417	0.998000	0.56505	0.043000	0.13939	1.353000	0.34045	2.431000	0.82371	0.655000	0.94253	CAG		0.637	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		7	37	1	0	2.0095e-06	0.248553	2.32847e-06	7	37				
NOTCH1	4851	broad.mit.edu	37	9	139412213	139412213	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:139412213A>T	ENST00000277541.6	-	8	1507	c.1432T>A	c.(1432-1434)Tgc>Agc	p.C478S	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	478	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCGGGCATGCAGATGCACTGG	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1432-1434)Tgc>Agc		notch 1							49.0	55.0	53.0					9																	139412213		2108	4212	6320	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139412213A>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1432T>A	9.37:g.139412213A>T	ENSP00000277541:p.Cys478Ser	HNSCC(8;0.001)					p.C478S	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1507	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	478			EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1432T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909447	0.72868	.	.	ENSG00000148400	ENST00000277541	D	0.99429	-5.89	4.47	4.47	0.54385	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	H	0.99929	4.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96559	0.9414	10	0.87932	D	0	.	12.9116	0.58182	1.0:0.0:0.0:0.0	.	478	P46531	NOTC1_HUMAN	S	478	ENSP00000277541:C478S	ENSP00000277541:C478S	C	-	1	0	NOTCH1	138532034	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	8.679000	0.91220	1.649000	0.50652	0.379000	0.24179	TGC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		10	70	0	0	0	0.361761	0	10	70				
FIGN	55137	broad.mit.edu	37	2	164467456	164467456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:164467456G>A	ENST00000333129.3	-	3	1200	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	296					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CCATGGCCCTGGTAGGTGTAG	0.577																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(886-888)Cag>Tag		fidgetin							49.0	53.0	52.0					2																	164467456		1986	4150	6136	SO:0001587	stop_gained	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164467456G>A	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.886C>T	2.37:g.164467456G>A	ENSP00000333836:p.Gln296*					FIGN_ENST00000409634.1_Intron	p.Q296*	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	1200	-			296					B3KWM0|Q9H6M5|Q9NVZ9	Nonsense_Mutation	SNP	ENST00000333129.3	37	c.886C>T	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	37	6.592195	0.97688	.	.	ENSG00000182263	ENST00000333129	.	.	.	5.94	5.94	0.96194	.	0.148429	0.47852	D	0.000217	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-4.7723	20.3666	0.98879	0.0:0.0:1.0:0.0	.	.	.	.	X	296	.	ENSP00000333836:Q296X	Q	-	1	0	FIGN	164175702	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.824000	0.99380	2.814000	0.96858	0.563000	0.77884	CAG		0.577	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		8	78	0	0	0	0.278610	0	8	78				
FOXP2	93986	broad.mit.edu	37	7	114271582	114271582	+	Splice_Site	SNP	G	G	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:114271582G>C	ENST00000393494.2	+	6	876		c.e6-1		FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000393500.3_Splice_Site|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000360232.4_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCTGATACcagcagcagcagc	0.517																																						ENST00000393500.3																			3	Unknown(3)	p.?(3)	endometrium(3)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.e12-1		forkhead box P2																																				SO:0001630	splice_region_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114271582G>C	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.598-1G>C	7.37:g.114271582G>C						FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000393491.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site				O15409	FOXP2_HUMAN			12	1192	+								A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Splice_Site	SNP	ENST00000393494.2	37		CCDS5760.1																																																																																				0.517	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	Intron	2	4	0	0	0	0.115264	0	2	4				
CYP4F11	57834	broad.mit.edu	37	19	16038133	16038133	+	Silent	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:16038133C>A	ENST00000402119.4	-	4	840	c.414G>T	c.(412-414)ctG>ctT	p.L138L	CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000326742.8_Silent_p.L138L|CYP4F11_ENST00000248041.8_Silent_p.L138L	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CACCACCACTCAGCAGGAGCC	0.527																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(412-414)ctG>ctT		cytochrome P450, family 4, subfamily F, polypeptide 11							90.0	90.0	90.0					19																	16038133		2203	4300	6503	SO:0001819	synonymous_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16038133C>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.414G>T	19.37:g.16038133C>A						CYP4F11_ENST00000402119.3_Silent_p.L138L|CYP4F11_ENST00000248041.7_Silent_p.L138L	p.L138L			Q9HBI6	CP4FB_HUMAN			4	415	-			138						Silent	SNP	ENST00000402119.4	37	c.414G>T	CCDS12337.1																																																																																				0.527	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		21	102	1	0	0.00229938	0.624587	0.00248673	21	102				
MYO16	23026	broad.mit.edu	37	13	109777522	109777522	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:109777522G>A	ENST00000357550.2	+	29	3573	c.3532G>A	c.(3532-3534)Gtg>Atg	p.V1178M	MYO16_ENST00000356711.2_Missense_Mutation_p.V1178M|MYO16_ENST00000457511.2_Missense_Mutation_p.V690M	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACAACAAGAGGTGACTTCTAT	0.438																																						ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(3532-3534)Gtg>Atg		myosin XVI							74.0	71.0	72.0					13																	109777522		2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109777522G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.3532G>A	13.37:g.109777522G>A	ENSP00000350160:p.Val1178Met					MYO16_ENST00000357550.2_Missense_Mutation_p.V1178M|MYO16_ENST00000457511.2_Missense_Mutation_p.V690M	p.V1178M	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		30	3658	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1178						Missense_Mutation	SNP	ENST00000357550.2	37	c.3532G>A	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790753	0.31685	.	.	ENSG00000041515	ENST00000356711;ENST00000357550;ENST00000457511	D;D;D	0.90385	-1.5;-1.5;-2.66	5.51	1.67	0.24075	.	0.203595	0.23995	U	0.042540	D	0.87700	0.6243	L	0.54323	1.7	0.23936	N	0.996416	P;P	0.50443	0.935;0.868	P;B	0.48738	0.588;0.38	T	0.78971	-0.1993	9	.	.	.	.	4.0917	0.09972	0.1348:0.2326:0.5127:0.1198	.	690;1178	F8W883;Q9Y6X6	.;MYO16_HUMAN	M	1178;1178;690	ENSP00000349145:V1178M;ENSP00000350160:V1178M;ENSP00000401633:V690M	.	V	+	1	0	MYO16	108575523	1.000000	0.71417	0.317000	0.25265	0.481000	0.33189	2.865000	0.48412	-0.002000	0.14469	0.655000	0.94253	GTG		0.438	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		17	25	0	0	0	0.500413	0	17	25				
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:7578271T>G	ENST00000269305.4	-	6	767	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000420246.2_Missense_Mutation_p.H193P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM083194|CM951225	TP53	M		c.(577-579)cAt>cCt	Other conserved DNA damage response genes	tumor protein p53							97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578271T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>C	17.37:g.7578271T>G	ENSP00000269305:p.His193Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000269305.4_Missense_Mutation_p.H193P	p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	710	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	193		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.578A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377907	0.42105	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88906	2.99	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97320	0.9943	10	0.87932	D	0	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193P;ENSP00000352610:H193P;ENSP00000269305:H193P;ENSP00000398846:H193P;ENSP00000391127:H193P;ENSP00000391478:H193P;ENSP00000425104:H61P;ENSP00000423862:H100P	ENSP00000269305:H193P	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		8	50	0	0	0	0.307466	0	8	50				
NCKAP1L	3071	broad.mit.edu	37	12	54891638	54891638	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:54891638G>T	ENST00000293373.6	+	1	144	c.65G>T	c.(64-66)gGt>gTt	p.G22V	RP11-753H16.3_ENST00000550474.1_RNA|NCKAP1L_ENST00000545638.2_5'Flank	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	22					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AATGATCGCGGTCAGGGGGTT	0.453																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(64-66)gGt>gTt		NCK-associated protein 1-like							116.0	97.0	103.0					12																	54891638		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54891638G>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.65G>T	12.37:g.54891638G>T	ENSP00000293373:p.Gly22Val						p.G22V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			1	144	+			22					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.65G>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107594	0.77096	.	.	ENSG00000123338	ENST00000293373	T	0.38077	1.16	5.91	5.02	0.67125	.	0.053492	0.85682	D	0.000000	T	0.58004	0.2092	M	0.74881	2.28	0.80722	D	1	D	0.63046	0.992	D	0.67548	0.952	T	0.62412	-0.6860	10	0.66056	D	0.02	-14.3148	12.8999	0.58119	0.078:0.0:0.9219:0.0	.	22	P55160	NCKPL_HUMAN	V	22	ENSP00000293373:G22V	ENSP00000293373:G22V	G	+	2	0	NCKAP1L	53177905	1.000000	0.71417	0.996000	0.52242	0.846000	0.48090	7.019000	0.76412	1.505000	0.48720	-0.140000	0.14226	GGT		0.453	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		5	52	1	0	1.23904e-05	0.184627	1.40232e-05	5	52				
SBNO1	55206	broad.mit.edu	37	12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:123782584C>T	ENST00000602398.1	-	31	4107	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D|SBNO1_ENST00000420886.2_Missense_Mutation_p.G1327D|SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1327					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3979-3981)gGc>gAc		strawberry notch homolog 1 (Drosophila)							215.0	186.0	196.0					12																	123782584		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123782584C>T	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3980G>A	12.37:g.123782584C>T	ENSP00000473665:p.Gly1327Asp					SBNO1_ENST00000602750.1_Missense_Mutation_p.G1326D|SBNO1_ENST00000602398.1_Missense_Mutation_p.G1327D|SBNO1_ENST00000267176.4_Missense_Mutation_p.G1326D	p.G1327D	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	30	3979	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1327					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.3980G>A	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955457	0.92726	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.81739	-1.53;-1.53	5.63	5.63	0.86233	.	0.057330	0.64402	D	0.000001	D	0.89382	0.6699	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.85568	0.1232	10	0.23302	T	0.38	-3.4964	20.1116	0.97914	0.0:1.0:0.0:0.0	.	1327;1326	A3KN83;A3KN83-2	SBNO1_HUMAN;.	D	1327;1326	ENSP00000387361:G1327D;ENSP00000267176:G1326D	ENSP00000267176:G1326D	G	-	2	0	SBNO1	122348537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.729000	0.84864	2.833000	0.97629	0.650000	0.86243	GGC		0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		4	125	0	0	0	0.184627	0	4	125				
SCARB1	949	broad.mit.edu	37	12	125270878	125270878	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:125270878G>A	ENST00000415380.2	-	11	1551	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000535005.1_Intron|SCARB1_ENST00000544327.1_Missense_Mutation_p.R422W|SCARB1_ENST00000540495.1_Missense_Mutation_p.R439W|SCARB1_ENST00000261693.6_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.R435W|SCARB1_ENST00000376788.1_Intron			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	476					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTGTCAGCCCGGGCTGCCCTC	0.667																																						ENST00000415380.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17						c.(1426-1428)Cgg>Tgg		scavenger receptor class B, member 1	Phosphatidylserine(DB00144)						79.0	80.0	80.0					12																	125270878		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125270878G>A	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1426C>T	12.37:g.125270878G>A	ENSP00000414979:p.Arg476Trp					SCARB1_ENST00000540495.1_Missense_Mutation_p.R439W|SCARB1_ENST00000261693.6_Intron|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.R435W|SCARB1_ENST00000544327.1_Missense_Mutation_p.R422W|SCARB1_ENST00000535005.1_Intron	p.R476W			Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	11	1551	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		476					F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.1426C>T		.	.	.	.	.	.	.	.	.	.	G	8.590	0.884316	0.17467	.	.	ENSG00000073060	ENST00000415380;ENST00000541205;ENST00000544327;ENST00000540495	T;T;T;T	0.63096	0.18;-0.02;-0.02;-0.02	3.02	-6.03	0.02185	.	.	.	.	.	T	0.42832	0.1220	.	.	.	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.04013	0.001;0.001;0.001	T	0.29181	-1.0020	8	0.72032	D	0.01	.	0.1492	0.00091	0.3293:0.1842:0.1565:0.3301	.	435;476;476	B3KW46;B4E3I1;Q8WTV0	.;.;SCRB1_HUMAN	W	476;435;422;439	ENSP00000414979:R476W;ENSP00000446107:R435W;ENSP00000444851:R422W;ENSP00000443286:R439W	ENSP00000414979:R476W	R	-	1	2	SCARB1	123836831	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.060000	0.00624	-5.074000	0.00022	-1.321000	0.01291	CGG		0.667	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		26	126	0	0	0	0.693898	0	26	126				
ITGA9	3680	broad.mit.edu	37	3	37818922	37818922	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:37818922C>T	ENST00000264741.5	+	24	2837	c.2581C>T	c.(2581-2583)Cca>Tca	p.P861S	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	861					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CCAGAAAAACCCAACTCCCTG	0.413																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(2581-2583)Cca>Tca		integrin, alpha 9							113.0	110.0	111.0					3																	37818922		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37818922C>T	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2581C>T	3.37:g.37818922C>T	ENSP00000264741:p.Pro861Ser					AC093415.2_ENST00000438136.1_RNA	p.P861S	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	24	2837	+			861					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.2581C>T	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839732	0.91117	.	.	ENSG00000144668	ENST00000264741	T	0.59638	0.25	5.66	5.66	0.87406	Integrin alpha-2 (1);	0.048715	0.85682	D	0.000000	T	0.58524	0.2128	L	0.60455	1.87	0.80722	D	1	B	0.21821	0.061	B	0.23150	0.044	T	0.55692	-0.8101	10	0.56958	D	0.05	.	18.8957	0.92423	0.0:1.0:0.0:0.0	.	861	Q13797	ITA9_HUMAN	S	861	ENSP00000264741:P861S	ENSP00000264741:P861S	P	+	1	0	ITGA9	37793926	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	7.065000	0.76727	2.832000	0.97577	0.655000	0.94253	CCA		0.413	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		8	49	0	0	0	0.278610	0	8	49				
SOX13	9580	broad.mit.edu	37	1	204085665	204085665	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:204085665T>C	ENST00000367204.1	+	5	558	c.449T>C	c.(448-450)cTc>cCc	p.L150P	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	150					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAGGAGCTCCAGCTTCTG	0.522																																						ENST00000367204.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(448-450)cTc>cCc		SRY (sex determining region Y)-box 13							73.0	79.0	77.0					1																	204085665		1997	4165	6162	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204085665T>C		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.449T>C	1.37:g.204085665T>C	ENSP00000356172:p.Leu150Pro					SOX13_ENST00000367203.4_3'UTR	p.L150P	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	558	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		150					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.449T>C	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.377342	0.61735	.	.	ENSG00000143842	ENST00000367204;ENST00000528591	D	0.97976	-4.64	5.21	5.21	0.72293	.	0.129068	0.53938	D	0.000057	D	0.98365	0.9457	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.942;0.998;0.999	D	0.98942	1.0791	10	0.49607	T	0.09	.	14.7531	0.69543	0.0:0.0:0.0:1.0	.	17;18;150;132	B4DX26;B4E3N9;Q9UN79;Q5SXX2	.;.;SOX13_HUMAN;.	P	150	ENSP00000356172:L150P	ENSP00000356172:L150P	L	+	2	0	SOX13	202352288	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.868000	0.56055	1.957000	0.56846	0.533000	0.62120	CTC		0.522	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		19	77	0	0	0	0.592651	0	19	77				
WNK1	65125	broad.mit.edu	37	12	971429	971429	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:971429C>T	ENST00000315939.6	+	8	2775	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	WNK1_ENST00000535572.1_Missense_Mutation_p.S711L|WNK1_ENST00000537687.1_Missense_Mutation_p.S711L|WNK1_ENST00000530271.2_Missense_Mutation_p.S711L|WNK1_ENST00000340908.4_Missense_Mutation_p.S304L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	711					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TATCCACCCTCAAGTGTGGTA	0.428																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(2131-2133)tCa>tTa		WNK lysine deficient protein kinase 1							101.0	89.0	93.0					12																	971429		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:971429C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2132C>T	12.37:g.971429C>T	ENSP00000313059:p.Ser711Leu					WNK1_ENST00000340908.4_Missense_Mutation_p.S304L|WNK1_ENST00000315939.6_Missense_Mutation_p.S711L|WNK1_ENST00000535572.1_Missense_Mutation_p.S711L|WNK1_ENST00000530271.2_Missense_Mutation_p.S711L	p.S711L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		8	2775	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		711					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2132C>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.454420	0.43634	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.55	6.17	5.28	0.74379	.	0.222293	0.31909	N	0.006869	T	0.12774	0.0310	L	0.29908	0.895	0.27156	N	0.961284	B;B;B	0.12013	0.005;0.002;0.002	B;B;B	0.09377	0.004;0.004;0.002	T	0.20739	-1.0266	10	0.09084	T	0.74	-11.6784	15.327	0.74172	0.0:0.9337:0.0:0.0663	.	711;711;711	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	L	711;711;711;158;711;304;10	ENSP00000441972:S711L;ENSP00000313059:S711L;ENSP00000444465:S711L;ENSP00000433548:S711L;ENSP00000341292:S304L;ENSP00000439552:S10L	ENSP00000252477:S158L	S	+	2	0	WNK1	841690	1.000000	0.71417	0.991000	0.47740	0.825000	0.46686	4.415000	0.59809	1.620000	0.50308	0.655000	0.94253	TCA		0.428	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		17	53	0	0	0	0.500413	0	17	53				
GLCCI1	113263	broad.mit.edu	37	7	8110681	8110681	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:8110681G>T	ENST00000223145.5	+	6	1654	c.1097G>T	c.(1096-1098)tGt>tTt	p.C366F		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	366						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CATTCACCCTGTGTCTCCCCT	0.512																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1096-1098)tGt>tTt		glucocorticoid induced transcript 1							156.0	139.0	145.0					7																	8110681		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8110681G>T	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1097G>T	7.37:g.8110681G>T	ENSP00000223145:p.Cys366Phe						p.C366F	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	6	1654	+		Ovarian(82;0.0608)	366					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.1097G>T	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401471	0.83120	.	.	ENSG00000106415	ENST00000223145	.	.	.	5.02	5.02	0.67125	.	0.044191	0.85682	D	0.000000	T	0.75752	0.3892	L	0.51422	1.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76402	-0.2972	9	0.59425	D	0.04	-16.8505	18.9063	0.92462	0.0:0.0:1.0:0.0	.	366	Q86VQ1	GLCI1_HUMAN	F	366	.	ENSP00000223145:C366F	C	+	2	0	GLCCI1	8077206	1.000000	0.71417	0.957000	0.39632	0.967000	0.64934	6.394000	0.73223	2.765000	0.95021	0.650000	0.86243	TGT		0.512	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		68	167	1	0	2.48295e-43	0.870114	3.15227e-43	68	167				
ZNF658	26149	broad.mit.edu	37	9	40773300	40773300	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:40773300C>T	ENST00000602553.1	-	5	2269	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ZNF658_ENST00000377626.3_Missense_Mutation_p.E659K|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	659					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATTACATTCATAGGGTTTC	0.418																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(1975-1977)Gaa>Aaa		zinc finger protein 658							131.0	137.0	135.0					9																	40773300		2202	4297	6499	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40773300C>T	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1975G>A	9.37:g.40773300C>T	ENSP00000473484:p.Glu659Lys					ZNF658_ENST00000377626.3_Missense_Mutation_p.E659K|ZNF658_ENST00000441795.1_Intron	p.E659K			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2269	-			659					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.1975G>A	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	9.285	1.049208	0.19827	.	.	ENSG00000196409	ENST00000377626	T	0.06608	3.28	1.98	-0.0348	0.13895	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04815	0.0130	N	0.02412	-0.56	0.09310	N	1	D	0.69078	0.997	D	0.79108	0.992	T	0.25813	-1.0121	9	0.07030	T	0.85	.	4.5057	0.11887	0.0:0.6348:0.0:0.3652	.	659	Q5TYW1	ZN658_HUMAN	K	659	ENSP00000366853:E659K	ENSP00000366853:E659K	E	-	1	0	ZNF658	40763300	0.000000	0.05858	0.157000	0.22605	0.986000	0.74619	-3.026000	0.00640	-0.006000	0.14370	0.518000	0.50308	GAA		0.418	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		70	266	0	0	0	0.870114	0	70	266				
DPP6	1804	broad.mit.edu	37	7	154672633	154672633	+	Missense_Mutation	SNP	G	G	A	rs550563959		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:154672633G>A	ENST00000377770.3	+	21	2255	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	DPP6_ENST00000332007.3_Missense_Mutation_p.R643H|DPP6_ENST00000404039.1_Missense_Mutation_p.R641H|DPP6_ENST00000427557.1_Missense_Mutation_p.R598H			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	705					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GACAGGACGCGCGTGGCCGTG	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		15848	0.0		0.001	False		,,,				2504	0.0				NSCLC(125;1384 1783 2490 7422 34254)	ENST00000404039.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(1921-1923)cGc>cAc		dipeptidyl-peptidase 6							105.0	115.0	112.0					7																	154672633		2140	4240	6380	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154672633G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2114G>A	7.37:g.154672633G>A	ENSP00000367001:p.Arg705His					DPP6_ENST00000427557.1_Missense_Mutation_p.R598H|DPP6_ENST00000332007.3_Missense_Mutation_p.R643H|DPP6_ENST00000377770.3_Missense_Mutation_p.R705H	p.R641H	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		21	2509	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	705						Missense_Mutation	SNP	ENST00000377770.3	37	c.1922G>A		.	.	.	.	.	.	.	.	.	.	G	16.72	3.202550	0.58234	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	4.54	4.54	0.55810	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72145	0.3424	M	0.71206	2.165	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.77005	-0.2748	10	0.87932	D	0	-13.6191	17.2999	0.87180	0.0:0.0:1.0:0.0	.	598;643;705;641	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	H	641;705;643;598	ENSP00000385578:R641H;ENSP00000367001:R705H;ENSP00000328226:R643H;ENSP00000397303:R598H	ENSP00000328226:R643H	R	+	2	0	DPP6	154303566	0.997000	0.39634	0.209000	0.23619	0.067000	0.16453	8.135000	0.89608	2.061000	0.61500	0.313000	0.20887	CGC		0.552	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		8	68	0	0	0	0.335167	0	8	68				
WFDC1	58189	broad.mit.edu	37	16	84328674	84328674	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:84328674A>T	ENST00000219454.5	+	1	423	c.97A>T	c.(97-99)Aat>Tat	p.N33Y	RP11-558A11.2_ENST00000569200.1_RNA|WFDC1_ENST00000568638.1_Missense_Mutation_p.N33Y	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	33				N -> D (in Ref. 3; BAC11377). {ECO:0000305}.	negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|response to drug (GO:0042493)|response to estradiol (GO:0032355)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCTGCCAAGAATATCTGGAA	0.632																																						ENST00000219454.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						c.(97-99)Aat>Tat		WAP four-disulfide core domain 1							78.0	86.0	83.0					16																	84328674		2200	4300	6500	SO:0001583	missense	58189				negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity	g.chr16:84328674A>T	AF302109	CCDS10946.1	16q24.1	2013-01-21			ENSG00000103175	ENSG00000103175		"""WAP four-disulfide core domain containing"""	15466	protein-coding gene	gene with protein product		605322				10967136	Standard	NM_021197		Approved	PS20	uc002fhw.3	Q9HC57	OTTHUMG00000137641	ENST00000219454.5:c.97A>T	16.37:g.84328674A>T	ENSP00000219454:p.Asn33Tyr					WFDC1_ENST00000568638.1_Missense_Mutation_p.N33Y	p.N33Y			Q9HC57	WFDC1_HUMAN			1	423	+			33	N -> D (in Ref. 3; BAC11377).				D3DUL7|Q8NC27|Q9HAU1	Missense_Mutation	SNP	ENST00000219454.5	37	c.97A>T	CCDS10946.1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.661652	0.47572	.	.	ENSG00000103175	ENST00000219454	T	0.32023	1.47	4.26	-2.74	0.05932	.	0.511347	0.20836	N	0.084792	T	0.14830	0.0358	L	0.29908	0.895	0.09310	N	1	B	0.29136	0.234	B	0.22753	0.041	T	0.12682	-1.0538	10	0.28530	T	0.3	-0.2097	5.4514	0.16566	0.4222:0.1596:0.4182:0.0	.	33	Q9HC57	WFDC1_HUMAN	Y	33	ENSP00000219454:N33Y	ENSP00000219454:N33Y	N	+	1	0	WFDC1	82886175	0.008000	0.16893	0.000000	0.03702	0.092000	0.18411	0.393000	0.20817	-0.649000	0.05430	-0.648000	0.03929	AAT		0.632	WFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269083.2			25	120	0	0	0	0.681144	0	25	120				
TSHZ3	57616	broad.mit.edu	37	19	31768676	31768676	+	Missense_Mutation	SNP	G	G	A	rs143305127		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:31768676G>A	ENST00000240587.4	-	2	2350	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	675					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CACCCATCCCGCGGGGGGCTG	0.652																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(2023-2025)Cgg>Tgg		teashirt zinc finger homeobox 3		G	TRP/ARG	0,4394		0,0,2197	25.0	28.0	27.0		2023	1.9	0.0	19	dbSNP_134	27	2,8578		0,2,4288	yes	missense	TSHZ3	NM_020856.2	101	0,2,6485	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	675/1082	31768676	2,12972	2197	4290	6487	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768676G>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2023C>T	19.37:g.31768676G>A	ENSP00000240587:p.Arg675Trp						p.R675W	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	2350	-	Esophageal squamous(110;0.226)		675					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.2023C>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528353	0.27299	0.0	2.33E-4	ENSG00000121297	ENST00000240587	T	0.39787	1.06	5.5	1.94	0.25998	.	0.353536	0.29053	N	0.013294	T	0.34250	0.0891	N	0.14661	0.345	0.31399	N	0.676919	D	0.64830	0.994	P	0.50570	0.644	T	0.47873	-0.9083	10	0.72032	D	0.01	-14.3004	13.4026	0.60891	0.0:0.0:0.283:0.717	.	675	Q63HK5	TSH3_HUMAN	W	675	ENSP00000240587:R675W	ENSP00000240587:R675W	R	-	1	2	TSHZ3	36460516	0.803000	0.28956	0.023000	0.16930	0.159000	0.22180	0.886000	0.28241	0.617000	0.30160	0.650000	0.86243	CGG		0.652	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		15	56	0	0	0	0.500413	0	15	56				
SCP2D1	140856	broad.mit.edu	37	20	18794840	18794840	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr20:18794840G>A	ENST00000377428.2	+	1	471	c.381G>A	c.(379-381)aaG>aaA	p.K127K	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	127	SCP2.																ACCCGCAGAAGGCTTTCCTTG	0.483																																						ENST00000377428.2																			0											c.(379-381)aaG>aaA		SCP2 sterol-binding domain containing 1							55.0	59.0	58.0					20																	18794840		2203	4300	6503	SO:0001819	synonymous_variant	140856							g.chr20:18794840G>A	AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.381G>A	20.37:g.18794840G>A						C20orf78_ENST00000278779.4_Intron	p.K127K	NM_178483.2	NP_848578.1					1	471	+								Q548A4	Silent	SNP	ENST00000377428.2	37	c.381G>A	CCDS13139.1																																																																																				0.483	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078193.1	NM_178483		24	82	0	0	0	0.654019	0	24	82				
BRMS1	25855	broad.mit.edu	37	11	66109064	66109064	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:66109064C>T	ENST00000359957.3	-	3	330	c.170G>A	c.(169-171)cGc>cAc	p.R57H	BRMS1_ENST00000425825.2_Missense_Mutation_p.R57H|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	57					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						ACACTCGCTGCGGCGTCGCTC	0.582																																					GBM(7;55 307 2662 20856 28942)	ENST00000359957.3																			0				large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						c.(169-171)cGc>cAc		breast cancer metastasis suppressor 1							227.0	209.0	215.0					11																	66109064		2200	4295	6495	SO:0001583	missense	25855				apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding	g.chr11:66109064C>T	AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.170G>A	11.37:g.66109064C>T	ENSP00000353042:p.Arg57His					BRMS1_ENST00000425825.2_Missense_Mutation_p.R57H	p.R57H	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN			3	330	-			57					Q6IAI2	Missense_Mutation	SNP	ENST00000359957.3	37	c.170G>A	CCDS8135.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919618	0.92249	.	.	ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756	.	.	.	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.74504	0.3725	L	0.54323	1.7	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.85130	0.98;0.997	T	0.76780	-0.2833	9	0.66056	D	0.02	-15.276	14.9566	0.71120	0.0:1.0:0.0:0.0	.	57;57	Q9HCU9;G5E9I4	BRMS1_HUMAN;.	H	57	.	ENSP00000353042:R57H	R	-	2	0	BRMS1	65865640	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	6.269000	0.72558	2.482000	0.83794	0.655000	0.94253	CGC		0.582	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392958.2	NM_015399		5	278	0	0	0	0.217242	0	5	278				
PRRC2A	7916	broad.mit.edu	37	6	31604645	31604645	+	Missense_Mutation	SNP	C	C	T	rs373808174		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr6:31604645C>T	ENST00000376033.2	+	28	6304	c.6070C>T	c.(6070-6072)Cgg>Tgg	p.R2024W	PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	2024	3 X 50 AA type C repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R2024W(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTGGCTGTGCGGCCCCCACC	0.672																																						ENST00000376033.2																			1	Substitution - Missense(1)	p.R2024W(1)	lung(1)	breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(6070-6072)Cgg>Tgg		proline-rich coiled-coil 2A		C	TRP/ARG,TRP/ARG	0,3014		0,0,1507	78.0	103.0	94.0		6070,6070	5.5	1.0	6		94	1,5415		0,1,2707	no	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	101,101	0,1,4214	TT,TC,CC		0.0185,0.0,0.0119	probably-damaging,probably-damaging	2024/2158,2024/2158	31604645	1,8429	1507	2708	4215	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31604645C>T	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.6070C>T	6.37:g.31604645C>T	ENSP00000365201:p.Arg2024Trp					PRRC2A_ENST00000376007.4_Missense_Mutation_p.R2024W	p.R2024W	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			28	6304	+			2024			3 X 50 AA type C repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.6070C>T	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610312	0.28712	0.0	1.85E-4	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01998	4.51;4.51	5.48	5.48	0.80851	.	0.127126	0.36519	N	0.002556	T	0.02610	0.0079	N	0.19112	0.55	0.36539	D	0.87119	D	0.76494	0.999	D	0.64877	0.93	T	0.54906	-0.8223	10	0.87932	D	0	-3.4827	11.736	0.51765	0.1756:0.8244:0.0:0.0	.	2024	P48634	PRC2A_HUMAN	W	2016;2005;2024;2024;1249	ENSP00000365175:R2024W;ENSP00000365201:R2024W	ENSP00000365175:R2024W	R	+	1	2	PRRC2A	31712624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.801000	0.27055	2.852000	0.98041	0.643000	0.83706	CGG		0.672	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		5	209	0	0	0	0.184627	0	5	209				
RTL1	388015	broad.mit.edu	37	14	101349254	101349254	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:101349254T>A	ENST00000534062.1	-	1	1930	c.1872A>T	c.(1870-1872)caA>caT	p.Q624H	MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR127_ENST00000384876.1_RNA|MIR432_ENST00000606207.1_RNA|MIR431_ENST00000385266.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	624					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TGGCTCTTTCTTGCATCCTGG	0.547																																						ENST00000534062.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						c.(1870-1872)caA>caT		retrotransposon-like 1							69.0	58.0	61.0					14																	101349254		692	1591	2283	SO:0001583	missense	388015							g.chr14:101349254T>A		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1872A>T	14.37:g.101349254T>A	ENSP00000435342:p.Gln624His						p.Q624H	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN			1	1930	-			624					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.1872A>T	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708585	0.30322	.	.	ENSG00000254656	ENST00000534062	T	0.42900	0.96	3.54	-0.15	0.13416	.	0.596206	0.12791	N	0.438897	T	0.39911	0.1096	L	0.44542	1.39	0.09310	N	1	D	0.58620	0.983	P	0.50231	0.635	T	0.28364	-1.0046	10	0.87932	D	0	.	7.0617	0.25129	0.0:0.4578:0.0:0.5422	.	624	E9PKS8	.	H	624	ENSP00000435342:Q624H	ENSP00000435342:Q624H	Q	-	3	2	RTL1	100419007	0.951000	0.32395	0.041000	0.18516	0.533000	0.34776	0.323000	0.19593	-0.027000	0.13873	0.383000	0.25322	CAA		0.547	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888		4	19	0	0	0	0.150653	0	4	19				
FAT2	2196	broad.mit.edu	37	5	150930202	150930202	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:150930202C>T	ENST00000261800.5	-	7	4539	c.4527G>A	c.(4525-4527)gtG>gtA	p.V1509V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1509	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAATTTTCCCACCGTTACCA	0.522																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(4525-4527)gtG>gtA		FAT atypical cadherin 2							96.0	87.0	90.0					5																	150930202		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150930202C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4527G>A	5.37:g.150930202C>T							p.V1509V	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	4539	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1509			Cadherin 13.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.4527G>A	CCDS4317.1																																																																																				0.522	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		16	80	0	0	0	0.575678	0	16	80				
MMP16	4325	broad.mit.edu	37	8	89180109	89180109	+	Silent	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:89180109T>A	ENST00000286614.6	-	4	779	c.498A>T	c.(496-498)acA>acT	p.T166T	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	166					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CTTCTTCAAATGTCAGAGGAG	0.423																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(496-498)acA>acT		matrix metallopeptidase 16 (membrane-inserted)							101.0	91.0	94.0					8																	89180109		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180109T>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.498A>T	8.37:g.89180109T>A						MMP16_ENST00000544227.1_5'UTR	p.T166T	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			4	779	-			166					B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.498A>T	CCDS6246.1																																																																																				0.423	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		9	79	0	0	0	0.335167	0	9	79				
ASB2	51676	broad.mit.edu	37	14	94413768	94413768	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:94413768C>T	ENST00000315988.4	-	5	1323	c.835G>A	c.(835-837)Ggt>Agt	p.G279S	ASB2_ENST00000555019.1_Missense_Mutation_p.G327S|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	279					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCGTCGGCACCCTGTGACAGC	0.612																																						ENST00000555019.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27						c.(979-981)Ggt>Agt		ankyrin repeat and SOCS box containing 2							211.0	162.0	178.0					14																	94413768		2203	4300	6503	SO:0001583	missense	51676				intracellular signal transduction			g.chr14:94413768C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.835G>A	14.37:g.94413768C>T	ENSP00000320675:p.Gly279Ser					ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.G279S	p.G327S	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	7	1409	-		all_cancers(154;0.13)	279					B2RDP9|B4E166|Q9NSU5|Q9Y567	Missense_Mutation	SNP	ENST00000315988.4	37	c.979G>A	CCDS9915.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535369	0.85812	.	.	ENSG00000100628	ENST00000555019;ENST00000434324;ENST00000315988;ENST00000543546;ENST00000555507	T;T;T	0.65364	1.58;1.58;-0.15	5.19	5.19	0.71726	Ankyrin repeat-containing domain (3);	0.219510	0.47852	D	0.000206	D	0.83575	0.5284	M	0.90019	3.08	0.50171	D	0.99985	D;D;P	0.89917	0.973;1.0;0.938	P;D;P	0.97110	0.846;1.0;0.703	D	0.87264	0.2281	10	0.87932	D	0	-13.8524	18.7174	0.91680	0.0:1.0:0.0:0.0	.	295;327;279	B3KPZ6;B4E166;Q96Q27	.;.;ASB2_HUMAN	S	327;295;279;225;225	ENSP00000451575:G327S;ENSP00000320675:G279S;ENSP00000450940:G225S	ENSP00000320675:G279S	G	-	1	0	ASB2	93483521	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.134000	0.42102	2.417000	0.82017	0.462000	0.41574	GGT		0.612	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			19	72	0	0	0	0.557998	0	19	72				
OR52A4	390053	broad.mit.edu	37	11	5142407	5142407	+	RNA	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:5142407C>A	ENST00000498233.1	-	0	991							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAGCACGCCTCAGAGGATAAC	0.473																																						ENST00000498233.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22															68.0	61.0	64.0					11																	5142407		2201	4298	6499			390053							g.chr11:5142407C>A			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142407C>A													Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	0	991	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							RNA	SNP	ENST00000498233.1	37																																																																																						0.473	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		7	35	1	0	0.00198382	0.248553	0.00216147	7	35				
NKRF	55922	broad.mit.edu	37	X	118723942	118723942	+	Silent	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:118723942C>A	ENST00000371527.1	-	2	2098	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.V482V|NKRF_ENST00000542113.1_Silent_p.V497V	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	482					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.V482V(3)|p.V497V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TCTCTAGAATCACTTTGCATT	0.463																																						ENST00000371527.1																			4	Substitution - coding silent(4)	p.V482V(3)|p.V497V(1)	lung(2)|prostate(2)	breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						c.(1444-1446)gtG>gtT		NFKB repressing factor							101.0	101.0	101.0					X																	118723942		2203	4299	6502	SO:0001819	synonymous_variant	55922				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding	g.chrX:118723942C>A	AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1446G>T	X.37:g.118723942C>A						NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Silent_p.V482V|NKRF_ENST00000542113.1_Silent_p.V497V	p.V482V	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN			2	2098	-			482					G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	c.1446G>T	CCDS35375.1																																																																																				0.463	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		4	239	1	0	0.014758	0.184627	0.0158431	4	239				
ELAVL4	1996	broad.mit.edu	37	1	50659453	50659453	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:50659453C>T	ENST00000371823.4	+	4	595	c.371C>T	c.(370-372)cCg>cTg	p.P124L	ELAVL4_ENST00000371821.1_Missense_Mutation_p.P129L|ELAVL4_ENST00000357083.4_Missense_Mutation_p.P141L|ELAVL4_ENST00000371827.1_Missense_Mutation_p.P124L|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P129L|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P127L|ELAVL4_ENST00000371824.1_Missense_Mutation_p.P124L	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	124	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TATGCCCGTCCGAGCTCTGCC	0.507																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(370-372)cCg>cTg		ELAV like neuron-specific RNA binding protein 4							164.0	146.0	152.0					1																	50659453		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50659453C>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.371C>T	1.37:g.50659453C>T	ENSP00000360888:p.Pro124Leu					ELAVL4_ENST00000371821.1_Missense_Mutation_p.P129L|ELAVL4_ENST00000371823.4_Missense_Mutation_p.P124L|ELAVL4_ENST00000357083.4_Missense_Mutation_p.P141L|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P129L|ELAVL4_ENST00000371827.1_Missense_Mutation_p.P124L|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P127L	p.P124L			P26378	ELAV4_HUMAN			4	628	+			124			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.371C>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360627	0.82353	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2;1.2;1.2	5.58	5.58	0.84498	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	M	0.84433	2.695	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.996;0.99;0.987;0.998;0.998;0.997;0.998	T	0.70506	-0.4853	10	0.87932	D	0	.	19.769	0.96353	0.0:1.0:0.0:0.0	.	129;129;124;124;141;124;127	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	L	127;124;141;124;124;129;129	ENSP00000399939:P127L;ENSP00000360892:P124L;ENSP00000349594:P141L;ENSP00000360889:P124L;ENSP00000360888:P124L;ENSP00000360886:P129L;ENSP00000360884:P129L	ENSP00000349594:P141L	P	+	2	0	ELAVL4	50432040	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.604000	0.82830	2.906000	0.99361	0.655000	0.94253	CCG		0.507	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		20	113	0	0	0	0.575678	0	20	113				
OR5M1	390168	broad.mit.edu	37	11	56380079	56380079	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:56380079G>A	ENST00000526538.1	-	1	899	c.900C>T	c.(898-900)gcC>gcT	p.A300A		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTTGTTGCATGGCAAGGATTA	0.388																																						ENST00000526538.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						c.(898-900)gcC>gcT		olfactory receptor, family 5, subfamily M, member 1							165.0	162.0	163.0					11																	56380079		1850	4103	5953	SO:0001819	synonymous_variant	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380079G>A	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.900C>T	11.37:g.56380079G>A							p.A300A	NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN			1	899	-			300					Q6IF60|Q96RB6	Silent	SNP	ENST00000526538.1	37	c.900C>T	CCDS53631.1																																																																																				0.388	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		37	190	0	0	0	0.827153	0	37	190				
SPPL2C	162540	broad.mit.edu	37	17	43923368	43923368	+	Missense_Mutation	SNP	C	C	T	rs369336082		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:43923368C>T	ENST00000329196.5	+	1	1113	c.1096C>T	c.(1096-1098)Cgt>Tgt	p.R366C	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	366						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CGTCCTGCACCGTGTGCGGCT	0.582																																						ENST00000329196.5																			0											c.(1096-1098)Cgt>Tgt		signal peptide peptidase like 2C							61.0	57.0	58.0					17																	43923368		2203	4300	6503	SO:0001583	missense	162540					integral to membrane	aspartic-type endopeptidase activity	g.chr17:43923368C>T		CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1096C>T	17.37:g.43923368C>T	ENSP00000332488:p.Arg366Cys					MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	p.R366C	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN			1	1113	+			366					Q8TC67|Q8WVZ6	Missense_Mutation	SNP	ENST00000329196.5	37	c.1096C>T	CCDS32673.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951331	0.34471	.	.	ENSG00000185294	ENST00000329196	T	0.17054	2.3	5.57	5.57	0.84162	.	0.000000	0.44483	D	0.000448	T	0.22513	0.0543	M	0.72118	2.19	0.26960	N	0.965833	B	0.30114	0.269	B	0.26202	0.067	T	0.13150	-1.0520	10	0.54805	T	0.06	-5.1293	15.047	0.71835	0.0:1.0:0.0:0.0	.	366	Q8IUH8	IMP5_HUMAN	C	366	ENSP00000332488:R366C	ENSP00000332488:R366C	R	+	1	0	AC217771.1	41279148	0.233000	0.23772	0.268000	0.24571	0.002000	0.02628	1.929000	0.40114	2.619000	0.88677	0.561000	0.74099	CGT		0.582	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1	NM_175882		13	34	0	0	0	0.411799	0	13	34				
SNTG2	54221	broad.mit.edu	37	2	1263157	1263157	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:1263157T>G	ENST00000308624.5	+	13	1150	c.1021T>G	c.(1021-1023)Tgg>Ggg	p.W341G	SNTG2_ENST00000407292.1_Missense_Mutation_p.W214G	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	341	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CACATTCGATTGGGTGCGAGC	0.383																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1021-1023)Tgg>Ggg		syntrophin, gamma 2							109.0	105.0	106.0					2																	1263157		1879	4125	6004	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1263157T>G	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1021T>G	2.37:g.1263157T>G	ENSP00000311837:p.Trp341Gly					SNTG2_ENST00000407292.1_Missense_Mutation_p.W214G	p.W341G	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1150	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	341			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1021T>G	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260562	0.39995	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.76709	0.44;-1.04	4.76	4.76	0.60689	Pleckstrin homology domain (1);	0.130156	0.56097	D	0.000030	D	0.85526	0.5717	M	0.79926	2.475	0.58432	D	0.999998	D;D	0.60575	0.972;0.988	P;P	0.57204	0.797;0.815	D	0.87984	0.2745	10	0.87932	D	0	.	13.9441	0.64073	0.0:0.0:0.0:1.0	.	214;341	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	G	341;214	ENSP00000311837:W341G;ENSP00000385020:W214G	ENSP00000311837:W341G	W	+	1	0	SNTG2	1245757	1.000000	0.71417	0.921000	0.36526	0.027000	0.11550	5.073000	0.64395	1.778000	0.52293	0.519000	0.50382	TGG		0.383	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		12	92	0	0	0	0.411799	0	12	92				
TFPT	29844	broad.mit.edu	37	19	54613495	54613495	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:54613495G>A	ENST00000391759.1	-	3	697	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	TFPT_ENST00000391758.1_Missense_Mutation_p.R89W|TFPT_ENST00000391757.1_Missense_Mutation_p.R98W	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	98					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TTCAGGACCCGCTCGTTCACC	0.577			T	TCF3	pre-B ALL																																	ENST00000391759.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(292-294)Cgg>Tgg		TCF3 (E2A) fusion partner (in childhood Leukemia)							85.0	72.0	77.0					19																	54613495		2203	4300	6503	SO:0001583	missense	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54613495G>A	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.292C>T	19.37:g.54613495G>A	ENSP00000375639:p.Arg98Trp					TFPT_ENST00000391757.1_Missense_Mutation_p.R98W|TFPT_ENST00000391758.1_Missense_Mutation_p.R89W	p.R98W	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN			3	697	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		98						Missense_Mutation	SNP	ENST00000391759.1	37	c.292C>T	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.892021	0.72524	.	.	ENSG00000105619	ENST00000391759;ENST00000391758;ENST00000391757	.	.	.	4.54	4.54	0.55810	.	0.067697	0.53938	D	0.000048	T	0.61060	0.2317	M	0.62723	1.935	0.39668	D	0.970715	D	0.64830	0.994	P	0.50049	0.629	T	0.67991	-0.5527	9	0.87932	D	0	-7.994	10.4966	0.44780	0.0:0.0:0.6868:0.3132	.	98	P0C1Z6	TFPT_HUMAN	W	98;89;98	.	ENSP00000375637:R98W	R	-	1	2	TFPT	59305307	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.277000	0.58939	2.250000	0.74265	0.561000	0.74099	CGG		0.577	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		11	39	0	0	0	0.435327	0	11	39				
IRF2BPL	64207	broad.mit.edu	37	14	77492316	77492316	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:77492316G>A	ENST00000238647.3	-	1	2718	c.1820C>T	c.(1819-1821)tCc>tTc	p.S607F		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	607	Pro-rich.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GGTCCGGTTGGAATGGGGTCC	0.726																																						ENST00000238647.3																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(1819-1821)tCc>tTc		interferon regulatory factor 2 binding protein-like							5.0	6.0	5.0					14																	77492316		1979	3925	5904	SO:0001583	missense	64207					nucleus		g.chr14:77492316G>A	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1820C>T	14.37:g.77492316G>A	ENSP00000238647:p.Ser607Phe						p.S607F	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	2718	-			607			Pro-rich.		Q8NDQ2|Q96JG2|Q9H3I7	Missense_Mutation	SNP	ENST00000238647.3	37	c.1820C>T	CCDS9854.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166543	0.38217	.	.	ENSG00000119669	ENST00000238647	T	0.68181	-0.31	3.92	3.92	0.45320	.	0.188831	0.35235	U	0.003349	T	0.73233	0.3561	L	0.43923	1.385	0.43793	D	0.996336	D	0.59357	0.985	P	0.62382	0.901	T	0.76982	-0.2757	10	0.72032	D	0.01	-0.3734	14.6747	0.68969	0.0:0.0:1.0:0.0	.	607	Q9H1B7	I2BPL_HUMAN	F	607	ENSP00000238647:S607F	ENSP00000238647:S607F	S	-	2	0	IRF2BPL	76562069	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	6.355000	0.73041	2.013000	0.59113	0.462000	0.41574	TCC		0.726	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		3	12	0	0	0	0.115264	0	3	12				
LOC146880	146880	broad.mit.edu	37	17	62750129	62750129	+	RNA	SNP	G	G	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:62750129G>C	ENST00000400873.3	-	0	2228					NR_026899.1																						TTACCTGAAAGATATTTGAAA	0.383																																						ENST00000400873.3																			0																																																			146880							g.chr17:62750129G>C																													17.37:g.62750129G>C								NR_026899.1						0	2228	-									RNA	SNP	ENST00000400873.3	37																																																																																						0.383	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				80	373	0	0	0	0.870114	0	80	373				
E2F8	79733	broad.mit.edu	37	11	19252273	19252273	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:19252273G>A	ENST00000527884.1	-	8	1407	c.1175C>T	c.(1174-1176)aCt>aTt	p.T392I	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.T392I	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	392					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGGTGTCGAGTAAAGTTTGG	0.423																																						ENST00000527884.1																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1174-1176)aCt>aTt		E2F transcription factor 8							103.0	100.0	101.0					11																	19252273		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19252273G>A		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1175C>T	11.37:g.19252273G>A	ENSP00000434199:p.Thr392Ile					E2F8_ENST00000250024.4_Missense_Mutation_p.T392I|RP11-428C19.4_ENST00000527978.1_RNA	p.T392I	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN			8	1407	-			392					A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.1175C>T	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604795	0.87157	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.22336	1.96;1.96	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.46624	-0.9178	10	0.87932	D	0	-21.4425	19.571	0.95419	0.0:0.0:1.0:0.0	.	392	A0AVK6	E2F8_HUMAN	I	392	ENSP00000434199:T392I;ENSP00000250024:T392I	ENSP00000250024:T392I	T	-	2	0	E2F8	19208849	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	9.476000	0.97823	2.713000	0.92767	0.655000	0.94253	ACT		0.423	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1	NM_024680		18	84	0	0	0	0.539581	0	18	84				
DLGAP1	9229	broad.mit.edu	37	18	3880018	3880018	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr18:3880018G>A	ENST00000315677.3	-	4	646	c.51C>T	c.(49-51)gaC>gaT	p.D17D	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Silent_p.D17D|DLGAP1_ENST00000581527.1_Silent_p.D17D|DLGAP1_ENST00000584874.1_Silent_p.D17D	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	17					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CACAGGCCGAGTCGCAGGTGA	0.662																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(49-51)gaC>gaT		discs, large (Drosophila) homolog-associated protein 1							38.0	33.0	35.0					18																	3880018		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3880018G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.51C>T	18.37:g.3880018G>A						DLGAP1_ENST00000515196.2_Silent_p.D17D|DLGAP1_ENST00000584874.1_Silent_p.D17D|DLGAP1_ENST00000581527.1_Silent_p.D17D|DLGAP1-AS3_ENST00000577649.1_RNA	p.D17D	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	646	-		Colorectal(8;0.0257)	17					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.51C>T	CCDS11836.1																																																																																				0.662	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			14	27	0	0	0	0.520397	0	14	27				
EPHA10	284656	broad.mit.edu	37	1	38184465	38184465	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:38184465C>T	ENST00000373048.4	-	16	2779	c.2780G>A	c.(2779-2781)cGt>cAt	p.R927H	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.R927H|EPHA10_ENST00000330210.7_Missense_Mutation_p.R422H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	927					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGAGAAGGCACGGTCCGCTAG	0.677																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2779-2781)cGt>cAt		EPH receptor A10							20.0	25.0	24.0					1																	38184465		2044	4175	6219	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38184465C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2780G>A	1.37:g.38184465C>T	ENSP00000362139:p.Arg927His					EPHA10_ENST00000427468.2_Missense_Mutation_p.R927H|EPHA10_ENST00000330210.7_Missense_Mutation_p.R422H|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR	p.R927H	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			16	2779	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	927					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.2780G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768876	0.49680	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	T;T;T	0.62364	0.03;0.03;0.03	4.63	4.63	0.57726	.	0.000000	0.39615	N	0.001308	T	0.68796	0.3040	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.68621	0.959	T	0.66834	-0.5823	10	0.37606	T	0.19	.	14.7039	0.69174	0.0:1.0:0.0:0.0	.	927	Q5JZY3	EPHAA_HUMAN	H	422;927;927	ENSP00000330379:R422H;ENSP00000397746:R927H;ENSP00000362139:R927H	ENSP00000330379:R422H	R	-	2	0	EPHA10	37957052	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.429000	0.34903	2.573000	0.86826	0.491000	0.48974	CGT		0.677	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		8	26	0	0	0	0.278610	0	8	26				
CDH10	1008	broad.mit.edu	37	5	24511576	24511576	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:24511576T>A	ENST00000264463.4	-	6	1369	c.862A>T	c.(862-864)Att>Ttt	p.I288F		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ACACTTCCAATGGCTGTGCCA	0.423										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(862-864)Att>Ttt		cadherin 10, type 2 (T2-cadherin)							118.0	102.0	107.0					5																	24511576		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511576T>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.862A>T	5.37:g.24511576T>A	ENSP00000264463:p.Ile288Phe	HNSCC(23;0.051)					p.I288F	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1369	-			288			Cadherin 3.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.862A>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897606	0.72639	.	.	ENSG00000040731	ENST00000264463	T	0.02682	4.2	4.98	2.69	0.31865	Cadherin (3);Cadherin-like (1);	0.301151	0.32357	N	0.006206	T	0.05823	0.0152	M	0.69823	2.125	0.37577	D	0.91966	P	0.35226	0.491	B	0.42138	0.377	T	0.13335	-1.0513	10	0.87932	D	0	.	5.9403	0.19189	0.0:0.3785:0.0:0.6215	.	288	Q9Y6N8	CAD10_HUMAN	F	288	ENSP00000264463:I288F	ENSP00000264463:I288F	I	-	1	0	CDH10	24547333	0.109000	0.22037	1.000000	0.80357	0.999000	0.98932	0.441000	0.21611	0.792000	0.33850	0.528000	0.53228	ATT		0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		38	72	0	0	0	0.812448	0	38	72				
LONRF1	91694	broad.mit.edu	37	8	12594431	12594431	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:12594431T>A	ENST00000398246.3	-	5	1401	c.1332A>T	c.(1330-1332)agA>agT	p.R444S	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Missense_Mutation_p.R87S	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	444							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TCAGCTTATTTCTTCCATCTT	0.308																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1330-1332)agA>agT		LON peptidase N-terminal domain and ring finger 1							59.0	50.0	53.0					8																	12594431		1799	4064	5863	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12594431T>A	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1332A>T	8.37:g.12594431T>A	ENSP00000381298:p.Arg444Ser					LONRF1_ENST00000533751.1_Missense_Mutation_p.R87S	p.R444S	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	5	1401	-			444					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.1332A>T	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562659	0.27915	.	.	ENSG00000154359	ENST00000398246;ENST00000533751;ENST00000524526	D;T;T	0.84730	-1.89;-1.34;-1.48	5.2	2.84	0.33178	.	0.102488	0.64402	D	0.000003	T	0.67896	0.2942	N	0.14661	0.345	0.38234	D	0.941122	B;B	0.17852	0.019;0.024	B;B	0.20955	0.032;0.006	T	0.55976	-0.8055	10	0.07813	T	0.8	-12.1202	7.9922	0.30248	0.0:0.3171:0.0:0.6829	.	444;444	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	S	444;87;58	ENSP00000381298:R444S;ENSP00000432130:R87S;ENSP00000433327:R58S	ENSP00000381298:R444S	R	-	3	2	LONRF1	12638802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.586000	0.36611	0.519000	0.28406	0.533000	0.62120	AGA		0.308	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		9	28	0	0	0	0.307466	0	9	28				
CCDC42	146849	broad.mit.edu	37	17	8638565	8638565	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:8638565C>T	ENST00000293845.3	-	6	948	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CCDC42_ENST00000539522.2_Missense_Mutation_p.R167H	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	241										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTGCGCCCAGCGAGATTCCTG	0.562																																						ENST00000293845.3																			0				kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						c.(721-723)cGc>cAc		coiled-coil domain containing 42							116.0	94.0	101.0					17																	8638565		2203	4300	6503	SO:0001583	missense	146849							g.chr17:8638565C>T	AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.722G>A	17.37:g.8638565C>T	ENSP00000293845:p.Arg241His					CCDC42_ENST00000539522.2_Missense_Mutation_p.R167H	p.R241H	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN			6	948	-			241					Q8N6Q0	Missense_Mutation	SNP	ENST00000293845.3	37	c.722G>A	CCDS11145.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.267726	0.59540	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24151	1.89;1.87	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000022	T	0.24122	0.0584	L	0.53249	1.67	0.32818	D	0.502331	D	0.54047	0.964	B	0.35607	0.206	T	0.43410	-0.9393	10	0.44086	T	0.13	-16.8373	17.3291	0.87258	0.0:1.0:0.0:0.0	.	241	Q96M95	CCD42_HUMAN	H	241;167	ENSP00000293845:R241H;ENSP00000444359:R167H	ENSP00000293845:R241H	R	-	2	0	CCDC42	8579290	0.996000	0.38824	1.000000	0.80357	0.975000	0.68041	0.970000	0.29383	2.633000	0.89246	0.563000	0.77884	CGC		0.562	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442491.1	NM_144681		5	56	0	0	0	0.184627	0	5	56				
CRYBG3	131544	broad.mit.edu	37	3	97662106	97662106	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:97662106A>G	ENST00000182096.4	+	19	3081	c.3017A>G	c.(3016-3018)aAt>aGt	p.N1006S	CRYBG3_ENST00000389622.2_Missense_Mutation_p.N213S|CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2954							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTAATTGTAAATCAGCCCCTG	0.358																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3016-3018)aAt>aGt		beta-gamma crystallin domain containing 3							89.0	85.0	86.0					3																	97662106		1823	4076	5899	SO:0001583	missense	131544							g.chr3:97662106A>G			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.3017A>G	3.37:g.97662106A>G	ENSP00000182096:p.Asn1006Ser					CRYBG3_ENST00000485253.1_3'UTR|CRYBG3_ENST00000389622.2_Missense_Mutation_p.N213S	p.N1006S	NM_153605.3	NP_705833.3					19	3081	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.3017A>G		.	.	.	.	.	.	.	.	.	.	A	20.4	3.981295	0.74474	.	.	ENSG00000080200	ENST00000182096;ENST00000389622	T;T	0.40756	1.02;1.02	6.05	6.05	0.98169	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	L	0.49126	1.545	0.45852	D	0.99871	D	0.89917	1.0	D	0.87578	0.998	T	0.60601	-0.7231	10	0.56958	D	0.05	.	16.5993	0.84807	1.0:0.0:0.0:0.0	.	1006	Q68DQ2	CRBG3_HUMAN	S	1006;213	ENSP00000182096:N1006S;ENSP00000374273:N213S	ENSP00000182096:N1006S	N	+	2	0	CRYBG3	99144796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.517000	0.67061	2.311000	0.77944	0.528000	0.53228	AAT		0.358	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		17	41	0	0	0	0.520397	0	17	41				
ATP11C	286410	broad.mit.edu	37	X	138864754	138864754	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:138864754T>A	ENST00000327569.3	-	18	2011	c.1913A>T	c.(1912-1914)gAt>gTt	p.D638V	ATP11C_ENST00000370543.1_Missense_Mutation_p.D638V|ATP11C_ENST00000370557.1_Missense_Mutation_p.D635V|ATP11C_ENST00000359686.2_Missense_Mutation_p.D638V|ATP11C_ENST00000361648.2_Missense_Mutation_p.D638V|ATP11C_ENST00000460773.1_5'UTR	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	638					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTCTCAATATCATCGAAAAC	0.338																																						ENST00000370557.1																			0				breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75						c.(1903-1905)gAt>gTt		ATPase, class VI, type 11C							131.0	104.0	113.0					X																	138864754		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138864754T>A	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1913A>T	X.37:g.138864754T>A	ENSP00000332756:p.Asp638Val					ATP11C_ENST00000327569.3_Missense_Mutation_p.D638V|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.D638V|ATP11C_ENST00000361648.2_Missense_Mutation_p.D638V|ATP11C_ENST00000359686.2_Missense_Mutation_p.D638V	p.D635V			Q8NB49	AT11C_HUMAN			18	2931	-	Acute lymphoblastic leukemia(192;0.000127)		638					Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1904A>T	CCDS14668.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.32|10.32	1.318107|1.318107	0.23994|0.23994	.|.	.|.	ENSG00000101974|ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686|ENST00000422228	D;D;D;D;D|.	0.82167|.	-1.58;-1.58;-1.58;-1.58;-1.58|.	5.68|5.68	4.5|4.5	0.54988|0.54988	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.341943|.	0.33515|.	N|.	0.004835|.	T|T	0.41789|0.41789	0.1174|0.1174	N|N	0.20766|0.20766	0.605|0.605	0.58432|0.58432	D|D	0.999998|0.999998	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.06405|.	0.001;0.002|.	T|T	0.16424|0.16424	-1.0403|-1.0403	10|5	0.15066|.	T|.	0.55|.	.|.	10.6721|10.6721	0.45764|0.45764	0.1448:0.0:0.0:0.8552|0.1448:0.0:0.0:0.8552	.|.	638;638|.	Q8NB49-3;Q8NB49|.	.;AT11C_HUMAN|.	V|L	635;638;638;638;638|190	ENSP00000359588:D635V;ENSP00000355165:D638V;ENSP00000332756:D638V;ENSP00000359574:D638V;ENSP00000352715:D638V|.	ENSP00000332756:D638V|.	D|I	-|-	2|1	0|0	ATP11C|ATP11C	138692420|138692420	0.985000|0.985000	0.35326|0.35326	0.991000|0.991000	0.47740|0.47740	0.925000|0.925000	0.55904|0.55904	1.335000|1.335000	0.33839|0.33839	0.749000|0.749000	0.32854|0.32854	0.481000|0.481000	0.45027|0.45027	GAT|ATA		0.338	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		15	84	0	0	0	0.479597	0	15	84				
TRANK1	9881	broad.mit.edu	37	3	36899181	36899181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:36899181G>A	ENST00000429976.2	-	12	2147	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	TRANK1_ENST00000301807.6_Nonsense_Mutation_p.Q84*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.Q84*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	634							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GACTTGAGCTGAGATGTGTGA	0.582																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(250-252)Cag>Tag		tetratricopeptide repeat and ankyrin repeat containing 1							107.0	109.0	109.0					3																	36899181		2030	4191	6221	SO:0001587	stop_gained	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36899181G>A	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.1900C>T	3.37:g.36899181G>A	ENSP00000416168:p.Gln634*					TRANK1_ENST00000428977.2_Nonsense_Mutation_p.Q84*|TRANK1_ENST00000429976.2_Nonsense_Mutation_p.Q634*	p.Q84*	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			12	2147	-			634					Q8N8K0	Nonsense_Mutation	SNP	ENST00000429976.2	37	c.250C>T	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	32	5.114515	0.94339	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	.	.	.	5.32	5.32	0.75619	.	0.141146	0.32106	N	0.006577	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.392	0.94587	0.0:0.0:1.0:0.0	.	.	.	.	X	84;634;84	.	ENSP00000301807:Q84X	Q	-	1	0	TRANK1	36874185	1.000000	0.71417	0.763000	0.31416	0.020000	0.10135	6.603000	0.74145	2.665000	0.90641	0.650000	0.86243	CAG		0.582	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		23	102	0	0	0	0.639603	0	23	102				
XPNPEP2	7512	broad.mit.edu	37	X	128895151	128895151	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:128895151G>A	ENST00000371106.3	+	17	1694	c.1502G>A	c.(1501-1503)cGa>cAa	p.R501Q		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	501						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTTCCAGGGCGAATGGTGGAG	0.547													G|||	1	0.000264901	0.0008	0.0	3775	,	,		14106	0.0		0.0	False		,,,				2504	0.0					ENST00000371106.3																			0				endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						c.(1501-1503)cGa>cAa		X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound							118.0	83.0	95.0					X																	128895151		2203	4300	6503	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128895151G>A	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1502G>A	X.37:g.128895151G>A	ENSP00000360147:p.Arg501Gln						p.R501Q	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN			17	1694	+			501					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.1502G>A	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135729	0.37728	.	.	ENSG00000122121	ENST00000371106	T	0.76578	-1.03	5.6	3.79	0.43588	Peptidase M24, structural domain (3);	0.441345	0.23658	N	0.045852	T	0.66538	0.2799	N	0.21097	0.63	0.09310	N	0.999999	P	0.50710	0.938	P	0.46026	0.501	T	0.56159	-0.8025	10	0.23302	T	0.38	-5.1689	10.7905	0.46429	0.0:0.1389:0.7135:0.1476	.	501	O43895	XPP2_HUMAN	Q	501	ENSP00000360147:R501Q	ENSP00000360147:R501Q	R	+	2	0	XPNPEP2	128722832	0.776000	0.28616	0.010000	0.14722	0.873000	0.50193	2.184000	0.42575	0.502000	0.28037	0.513000	0.50165	CGA		0.547	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		6	48	0	0	0	0.217242	0	6	48				
MYOCD	93649	broad.mit.edu	37	17	12639605	12639605	+	Silent	SNP	C	C	T	rs368720240		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:12639605C>T	ENST00000343344.4	+	6	543	c.543C>T	c.(541-543)gaC>gaT	p.D181D	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Silent_p.D181D|AC005358.1_ENST00000609971.1_Silent_p.D85D			Q8IZQ8	MYCD_HUMAN	myocardin	181	HDAC5-binding. {ECO:0000250}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCGCCAGACGCTAAAGCCT	0.488																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(541-543)gaC>gaT		myocardin							89.0	97.0	95.0					17																	12639605		2203	4300	6503	SO:0001819	synonymous_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12639605C>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.543C>T	17.37:g.12639605C>T						MYOCD_ENST00000343344.4_Silent_p.D181D|MYOCD_ENST00000395988.1_Silent_p.D85D	p.D181D	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	6	743	+			181			HDAC5-binding (By similarity).		Q5UBU5|Q8N7Q1	Silent	SNP	ENST00000343344.4	37	c.543C>T	CCDS11163.1																																																																																				0.488	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		26	119	0	0	0	0.717897	0	26	119				
PDLIM7	9260	broad.mit.edu	37	5	176910984	176910984	+	Splice_Site	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:176910984C>A	ENST00000355841.2	-	12	1238		c.e12-1		PDLIM7_ENST00000359895.2_Splice_Site|PDLIM7_ENST00000356618.4_Splice_Site|PDLIM7_ENST00000505746.1_Splice_Site	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)						actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTCATAGTCTGAGAATGGG	0.577																																						ENST00000355841.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10						c.e12-1		PDZ and LIM domain 7 (enigma)							66.0	67.0	66.0					5																	176910984		2203	4300	6503	SO:0001630	splice_region_variant	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176910984C>A	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.1172-1G>T	5.37:g.176910984C>A						PDLIM7_ENST00000505746.1_Splice_Site|PDLIM7_ENST00000359895.2_Splice_Site|PDLIM7_ENST00000356618.4_Splice_Site		NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1238	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)						Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Splice_Site	SNP	ENST00000355841.2	37		CCDS4422.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.983982	0.53827	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6987	0.88289	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDLIM7	176843590	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	7.508000	0.81686	2.722000	0.93159	0.555000	0.69702	.		0.577	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451	Intron	8	72	1	0	0.27861	0.278610	0.286459	8	72				
ZC3HC1	51530	broad.mit.edu	37	7	129679338	129679338	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:129679338C>T	ENST00000358303.4	-	4	543	c.459G>A	c.(457-459)gaG>gaA	p.E153E	ZC3HC1_ENST00000360708.5_Silent_p.E153E|ZC3HC1_ENST00000481503.1_Silent_p.E153E|ZC3HC1_ENST00000311873.5_Silent_p.E132E	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	153					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AACAGAACTTCTCATGGGCAG	0.388																																					Melanoma(115;540 1606 16325 28853 48167)	ENST00000358303.4																			0				endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22						c.(457-459)gaG>gaA		zinc finger, C3HC-type containing 1							96.0	88.0	91.0					7																	129679338		2203	4300	6503	SO:0001819	synonymous_variant	51530				cell division|mitosis	nucleus	protein kinase binding|zinc ion binding	g.chr7:129679338C>T	AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"""Zinc fingers, C3HC-type"""	29913	protein-coding gene	gene with protein product	"""nuclear interaction partner of ALK"""					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.459G>A	7.37:g.129679338C>T						ZC3HC1_ENST00000481503.1_Silent_p.E153E|ZC3HC1_ENST00000311873.5_Silent_p.E132E|ZC3HC1_ENST00000360708.5_Silent_p.E153E	p.E153E	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN			4	543	-	Melanoma(18;0.0435)		153					A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Silent	SNP	ENST00000358303.4	37	c.459G>A	CCDS34753.1																																																																																				0.388	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349316.1	NM_016478		5	60	0	0	0	0.184627	0	5	60				
MUC16	94025	broad.mit.edu	37	19	9056421	9056421	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:9056421G>A	ENST00000397910.4	-	3	31228	c.31025C>T	c.(31024-31026)tCt>tTt	p.S10342F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10344	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S5975Y(1)|p.S10342Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGTTGAAGAATCAGTGGT	0.532																																						ENST00000397910.4																			2	Substitution - Missense(2)	p.S5975Y(1)|p.S10342Y(1)	large_intestine(2)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(31024-31026)tCt>tTt		mucin 16, cell surface associated							114.0	110.0	112.0					19																	9056421		2018	4185	6203	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056421G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.31025C>T	19.37:g.9056421G>A	ENSP00000381008:p.Ser10342Phe						p.S10342F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	31228	-			10344			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31025C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.772	0.707677	0.15239	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	3.69	1.55	0.23275	.	.	.	.	.	T	0.05044	0.0135	N	0.19112	0.55	.	.	.	D	0.69078	0.997	D	0.63793	0.918	T	0.36866	-0.9730	8	0.87932	D	0	.	6.2732	0.20966	0.2292:0.0:0.7708:0.0	.	10342	B5ME49	.	F	10342	ENSP00000381008:S10342F	ENSP00000381008:S10342F	S	-	2	0	MUC16	8917421	0.000000	0.05858	0.004000	0.12327	0.245000	0.25701	-0.120000	0.10660	0.542000	0.28846	-0.349000	0.07799	TCT		0.532	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	54	0	0	0	0.624587	0	20	54				
KCNH7	90134	broad.mit.edu	37	2	163374452	163374452	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:163374452G>A	ENST00000332142.5	-	4	779	c.680C>T	c.(679-681)cCc>cTc	p.P227L	KCNH7_ENST00000328032.4_Missense_Mutation_p.P227L|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	227					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATTCACCAAGGGAGAACATTT	0.483																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(679-681)cCc>cTc		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						154.0	150.0	151.0					2																	163374452		2202	4300	6502	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374452G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.680C>T	2.37:g.163374452G>A	ENSP00000331727:p.Pro227Leu					KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.P227L	p.P227L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			4	779	-			227					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.680C>T	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782405	0.70222	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98221	-4.8;-4.8	5.65	5.65	0.86999	.	0.076110	0.56097	D	0.000030	D	0.95490	0.8535	N	0.19112	0.55	0.80722	D	1	B;B	0.27416	0.178;0.035	B;B	0.24394	0.053;0.011	D	0.92778	0.6238	10	0.44086	T	0.13	.	19.7301	0.96179	0.0:0.0:1.0:0.0	.	227;227	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	L	227	ENSP00000331727:P227L;ENSP00000333781:P227L	ENSP00000333781:P227L	P	-	2	0	KCNH7	163082698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.201000	0.95017	2.676000	0.91093	0.655000	0.94253	CCC		0.483	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		11	134	0	0	0	0.361761	0	11	134				
OR6K2	81448	broad.mit.edu	37	1	158670019	158670019	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:158670019G>T	ENST00000359610.2	-	1	467	c.424C>A	c.(424-426)Caa>Aaa	p.Q142K		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AAAGTCAGTTGGGTACATAGC	0.473																																						ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(424-426)Caa>Aaa		olfactory receptor, family 6, subfamily K, member 2							121.0	107.0	112.0					1																	158670019		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670019G>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.424C>A	1.37:g.158670019G>T	ENSP00000352626:p.Gln142Lys						p.Q142K	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	467	-	all_hematologic(112;0.0378)		142					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.424C>A	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	6.879	0.531633	0.13127	.	.	ENSG00000196171	ENST00000359610	T	0.00123	8.7	4.78	2.89	0.33648	GPCR, rhodopsin-like superfamily (1);	0.446120	0.16418	N	0.215300	T	0.00073	0.0002	L	0.60012	1.86	0.22066	N	0.999389	P	0.35307	0.494	P	0.46389	0.515	T	0.37174	-0.9717	10	0.02654	T	1	-4.4611	7.0115	0.24865	0.0896:0.0:0.7388:0.1716	.	142	Q8NGY2	OR6K2_HUMAN	K	142	ENSP00000352626:Q142K	ENSP00000352626:Q142K	Q	-	1	0	OR6K2	156936643	0.001000	0.12720	0.159000	0.22649	0.703000	0.40648	0.978000	0.29488	0.597000	0.29811	-0.188000	0.12872	CAA		0.473	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		8	60	1	0	3.09899e-07	0.307466	3.67847e-07	8	60				
CREBBP	1387	broad.mit.edu	37	16	3817904	3817904	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:3817904C>T	ENST00000262367.5	-	16	3876	c.3067G>A	c.(3067-3069)Gag>Aag	p.E1023K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E985K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1023					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAATCCTCCTCCATCATCTTG	0.388			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(3067-3069)Gag>Aag		CREB binding protein							180.0	170.0	173.0					16																	3817904		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3817904C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3067G>A	16.37:g.3817904C>T	ENSP00000262367:p.Glu1023Lys					CREBBP_ENST00000382070.3_Missense_Mutation_p.E985K	p.E1023K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	16	3876	-		Ovarian(90;0.0266)	1023					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.3067G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198986	0.58126	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83673	-1.75;-1.66	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000004	T	0.72170	0.3427	N	0.22421	0.69	0.58432	D	0.999996	B;B	0.25667	0.131;0.131	B;B	0.25140	0.058;0.058	T	0.66689	-0.5860	10	0.13853	T	0.58	-25.8373	15.3398	0.74287	0.0:0.8609:0.1391:0.0	.	1053;1023	Q4LE28;Q92793	.;CBP_HUMAN	K	1023;1053;985	ENSP00000262367:E1023K;ENSP00000371502:E985K	ENSP00000262367:E1023K	E	-	1	0	CREBBP	3757905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.577000	0.60922	2.764000	0.94973	0.655000	0.94253	GAG		0.388	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		22	132	0	0	0	0.624587	0	22	132				
MTMR11	10903	broad.mit.edu	37	1	149902780	149902780	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:149902780C>T	ENST00000439741.2	-	14	1618	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E	SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000369140.3_Silent_p.E384E|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.S254N	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	456	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GAAGGAAAAACTCAGAGAATT	0.498																																						ENST00000361405.6																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(760-762)aGt>aAt		myotubularin related protein 11							38.0	43.0	41.0					1																	149902780		2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149902780C>T	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1368G>A	1.37:g.149902780C>T						MTMR11_ENST00000369140.3_Silent_p.E384E|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000439741.2_Silent_p.E456E	p.S254N			A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		8	1011	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		0			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.761G>A	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683869	0.29872	.	.	ENSG00000014914	ENST00000361405	T	0.48836	0.8	5.16	3.31	0.37934	.	.	.	.	.	T	0.37489	0.1005	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16305	-1.0407	6	0.35671	T	0.21	.	10.533	0.44988	0.0:0.8424:0.0:0.1576	.	.	.	.	N	254	ENSP00000354941:S254N	ENSP00000354941:S254N	S	-	2	0	MTMR11	148169404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.375000	0.34295	0.763000	0.33175	0.655000	0.94253	AGT		0.498	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		4	86	0	0	0	0.150653	0	4	86				
CHST9	83539	broad.mit.edu	37	18	24496367	24496367	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr18:24496367C>G	ENST00000284224.8	-	6	1465	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	CHST9_ENST00000581714.1_Missense_Mutation_p.K396N|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	396					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					AGTGCCTATCCTTAAAGTTGG	0.368																																						ENST00000284224.8																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28						c.(1186-1188)aaG>aaC		carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9							150.0	138.0	142.0					18																	24496367		1831	4089	5920	SO:0001583	missense	83539				carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr18:24496367C>G	AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1188G>C	18.37:g.24496367C>G	ENSP00000284224:p.Lys396Asn					AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.K396N|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000582605.1_RNA	p.K396N	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN			6	1465	-	all_lung(6;0.0145)|Ovarian(20;0.124)		396					Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	c.1188G>C	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534015	0.45073	.	.	ENSG00000154080	ENST00000284224	T	0.74106	-0.81	6.07	3.25	0.37280	.	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78765	-0.2076	10	0.72032	D	0.01	-22.5812	7.7663	0.28982	0.0:0.6272:0.0:0.3728	.	396	Q7L1S5	CHST9_HUMAN	N	396	ENSP00000284224:K396N	ENSP00000284224:K396N	K	-	3	2	CHST9	22750365	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.499000	0.35671	0.841000	0.35020	0.655000	0.94253	AAG		0.368	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1	NM_031422		47	165	0	0	0	0.870114	0	47	165				
ARMCX2	9823	broad.mit.edu	37	X	100911937	100911937	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:100911937G>A	ENST00000328766.5	-	5	1091	c.638C>T	c.(637-639)tCg>tTg	p.S213L	ARMCX2_ENST00000356824.4_Missense_Mutation_p.S213L|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.S213L	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	213	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTCGGTAGGCGATGCCACCCC	0.647																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(637-639)tCg>tTg		armadillo repeat containing, X-linked 2							25.0	23.0	24.0					X																	100911937		2194	4281	6475	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911937G>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.638C>T	X.37:g.100911937G>A	ENSP00000331662:p.Ser213Leu					ARMCX2_ENST00000330154.2_Missense_Mutation_p.S213L|ARMCX2_ENST00000356824.4_Missense_Mutation_p.S213L	p.S213L	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1091	-			213			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.638C>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.817245	0.32145	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.32272	1.46;1.46;1.46	3.17	0.958	0.19619	.	2.476930	0.01797	N	0.032676	T	0.21103	0.0508	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.22208	-1.0223	10	0.41790	T	0.15	.	8.099	0.30846	0.0:0.0:0.5797:0.4203	.	213	Q7L311	ARMX2_HUMAN	L	213	ENSP00000331662:S213L;ENSP00000328631:S213L;ENSP00000349281:S213L	ENSP00000331662:S213L	S	-	2	0	ARMCX2	100798593	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.309000	0.02728	0.440000	0.26502	0.468000	0.43344	TCG		0.647	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		8	54	0	0	0	0.307466	0	8	54				
MLLT10	8028	broad.mit.edu	37	10	21959517	21959517	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr10:21959517G>C	ENST00000307729.7	+	10	1113	c.935G>C	c.(934-936)gGg>gCg	p.G312A	MLLT10_ENST00000377072.3_Missense_Mutation_p.G312A|MLLT10_ENST00000446906.2_Missense_Mutation_p.G312A|MLLT10_ENST00000377059.3_Missense_Mutation_p.G312A			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	312	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAGACTAGAGGGTCAGAGGGC	0.468			T	"""MLL, PICALM, CDK6"""	AL																																	ENST00000377072.3				Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	"""MLL, PICALM, CDK6"""		AL		0				NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(934-936)gGg>gCg		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10							76.0	72.0	73.0					10																	21959517		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:21959517G>C	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.935G>C	10.37:g.21959517G>C	ENSP00000307411:p.Gly312Ala					MLLT10_ENST00000377059.3_Missense_Mutation_p.G312A|MLLT10_ENST00000446906.2_Missense_Mutation_p.G312A|MLLT10_ENST00000307729.7_Missense_Mutation_p.G312A	p.G312A	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN			10	1283	+			312			DNA-binding.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.935G>C	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	G	9.216	1.032116	0.19590	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.71	4.79	0.61399	.	0.432896	0.27236	N	0.020295	T	0.13841	0.0335	L	0.44542	1.39	0.43874	D	0.996484	B;B;B;B	0.22480	0.006;0.07;0.002;0.07	B;B;B;B	0.21546	0.009;0.016;0.003;0.035	T	0.02909	-1.1095	10	0.49607	T	0.09	.	12.2491	0.54587	0.0:0.1295:0.7359:0.1346	.	158;312;312;312	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	A	312;312;312;158;312;52;51	ENSP00000366272:G312A;ENSP00000401406:G312A;ENSP00000307411:G312A;ENSP00000366258:G312A	ENSP00000307411:G312A	G	+	2	0	MLLT10	21999523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.917000	0.63369	1.369000	0.46134	0.655000	0.94253	GGG		0.468	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			6	45	0	0	0	0.217242	0	6	45				
CPLX4	339302	broad.mit.edu	37	18	56963955	56963955	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr18:56963955G>A	ENST00000299721.3	-	3	644	c.458C>T	c.(457-459)gCg>gTg	p.A153V	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	153					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)		p.A153V(1)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTCTGCTCCGCTGTCTGCTT	0.498																																						ENST00000299721.3																			1	Substitution - Missense(1)	p.A153V(1)	large_intestine(1)	autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16						c.(457-459)gCg>gTg		complexin 4							91.0	84.0	87.0					18																	56963955		2203	4300	6503	SO:0001583	missense	339302				exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	g.chr18:56963955G>A	AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.458C>T	18.37:g.56963955G>A	ENSP00000299721:p.Ala153Val					CPLX4_ENST00000587244.1_Intron	p.A153V	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN			3	644	-		Colorectal(73;0.175)	153					F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	c.458C>T	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	G	34	5.349439	0.95830	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.81331	-0.0981	9	0.72032	D	0.01	-9.7614	19.3422	0.94347	0.0:0.0:1.0:0.0	.	153	Q7Z7G2	CPLX4_HUMAN	V	153	.	ENSP00000299721:A153V	A	-	2	0	CPLX4	55114935	1.000000	0.71417	0.205000	0.23548	0.994000	0.84299	9.393000	0.97256	2.653000	0.90120	0.561000	0.74099	GCG		0.498	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654		13	60	0	0	0	0.479597	0	13	60				
TMEM63C	57156	broad.mit.edu	37	14	77715181	77715181	+	Silent	SNP	G	G	A	rs377406894		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:77715181G>A	ENST00000298351.4	+	20	1980	c.1836G>A	c.(1834-1836)gcG>gcA	p.A612A		NM_020431.2	NP_065164.2	Q9P1W3	CSC1_HUMAN	transmembrane protein 63C	612					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)	integral component of membrane (GO:0016021)	calcium activated cation channel activity (GO:0005227)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TGGTGATGGCGTACAGCATCA	0.562																																						ENST00000298351.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23						c.(1834-1836)gcG>gcA		transmembrane protein 63C		G		0,4364		0,0,2182	254.0	241.0	245.0		1836	-10.2	0.7	14		245	1,8581	1.2+/-3.3	0,1,4290	no	coding-synonymous	TMEM63C	NM_020431.2		0,1,6472	AA,AG,GG		0.0117,0.0,0.0077		612/807	77715181	1,12945	2182	4291	6473	SO:0001819	synonymous_variant	57156					integral to membrane		g.chr14:77715181G>A		CCDS45141.1	14q24.3	2014-05-30	2005-07-25	2005-07-25	ENSG00000165548	ENSG00000165548			23787	protein-coding gene	gene with protein product	"""calcium permeable stress-gated cation channel 1 homolog (Arabidopsis)"""		"""chromosome 14 open reading frame 171"""	C14orf171		24503647	Standard	NM_020431		Approved	DKFZp434P0111, CSC1, hsCSC1	uc001xtf.2	Q9P1W3	OTTHUMG00000171557	ENST00000298351.4:c.1836G>A	14.37:g.77715181G>A							p.A612A	NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)	20	1980	+			612					B2RN22|B3KWJ5|Q86TS3|Q86TS4|Q9NSQ4|Q9P1W1	Silent	SNP	ENST00000298351.4	37	c.1836G>A	CCDS45141.1																																																																																				0.562	TMEM63C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414193.1			4	188	0	0	0	0.248553	0	4	188				
FSIP2	401024	broad.mit.edu	37	2	186670435	186670435	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:186670435A>G	ENST00000424728.1	+	17	16402	c.16402A>G	c.(16402-16404)Aca>Gca	p.T5468A	FSIP2_ENST00000343098.5_Missense_Mutation_p.T5557A			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5468										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAATAGAGGTACAATGAATAG	0.323																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(16669-16671)Aca>Gca		fibrous sheath interacting protein 2							65.0	63.0	64.0					2																	186670435		1820	4067	5887	SO:0001583	missense	401024							g.chr2:186670435A>G	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16402A>G	2.37:g.186670435A>G	ENSP00000401306:p.Thr5468Ala					FSIP2_ENST00000424728.1_Missense_Mutation_p.T5468A	p.T5557A	NM_173651.2	NP_775922.2					17	16669	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.16669A>G		.	.	.	.	.	.	.	.	.	.	A	5.202	0.222848	0.09863	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.45276	0.9;0.9	4.56	-1.64	0.08318	.	.	.	.	.	T	0.16342	0.0393	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.31052	-0.9957	7	0.02654	T	1	.	8.4754	0.33009	0.6992:0.0:0.3008:0.0	.	.	.	.	A	5557;5468	ENSP00000344403:T5557A;ENSP00000401306:T5468A	ENSP00000344403:T5557A	T	+	1	0	FSIP2	186378680	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.768000	0.04715	-0.179000	0.10654	0.377000	0.23210	ACA		0.323	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		6	59	0	0	0	0.217242	0	6	59				
PLA2G15	23659	broad.mit.edu	37	16	68289188	68289188	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:68289188C>T	ENST00000219345.5	+	4	490	c.407C>T	c.(406-408)tCc>tTc	p.S136F	PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Missense_Mutation_p.P84S|PLA2G15_ENST00000566188.1_Missense_Mutation_p.S136F|RP11-96D1.7_ENST00000569843.1_RNA|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	136					ceramide metabolic process (GO:0006672)|fatty acid catabolic process (GO:0009062)|phosphatidylcholine metabolic process (GO:0046470)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)|O-acyltransferase activity (GO:0008374)|phospholipid binding (GO:0005543)			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TCTACAGGTTCCTATTTCCAC	0.557																																						ENST00000219345.5																			0				kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						c.(406-408)tCc>tTc		phospholipase A2, group XV							63.0	65.0	64.0					16																	68289188		2198	4300	6498	SO:0001583	missense	23659				fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding	g.chr16:68289188C>T	AB017494	CCDS10864.1	16q22.1	2008-09-19	2008-09-19	2008-09-19	ENSG00000103066	ENSG00000103066			17163	protein-coding gene	gene with protein product		609362	"""lysophospholipase 3 (lysosomal phospholipase A2)"""	LYPLA3		10092508, 16973413	Standard	XM_005255886		Approved	LLPL, GXVPLA2	uc002evr.3	Q8NCC3	OTTHUMG00000137554	ENST00000219345.5:c.407C>T	16.37:g.68289188C>T	ENSP00000219345:p.Ser136Phe					PLA2G15_ENST00000566188.1_Missense_Mutation_p.S136F|PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Missense_Mutation_p.P84S	p.S136F	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN			4	490	+			136					B3KMF3|B4DUD1|Q53GZ1|Q9NPQ6|Q9UG04|Q9Y2B3	Missense_Mutation	SNP	ENST00000219345.5	37	c.407C>T	CCDS10864.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.43|18.43	3.622497|3.622497	0.66787|0.66787	.|.	.|.	ENSG00000103066|ENSG00000103066	ENST00000413021|ENST00000219345	D|D	0.96830|0.95447	-4.14|-3.71	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|0.309423	.|0.39083	.|N	.|0.001469	D|D	0.96824|0.96824	0.8963|0.8963	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	P|D;P	0.48764|0.64830	0.915|0.994;0.934	B|P;P	0.36922|0.60789	0.236|0.879;0.617	D|D	0.96746|0.96746	0.9550|0.9550	9|10	0.87932|0.59425	D|D	0|0.04	-48.6979|-48.6979	15.2379|15.2379	0.73447|0.73447	0.0:0.859:0.141:0.0|0.0:0.859:0.141:0.0	.|.	84|136;136	B4DUD1|B4DJW4;Q8NCC3	.|.;PAG15_HUMAN	S|F	84|136	ENSP00000394197:P84S|ENSP00000219345:S136F	ENSP00000394197:P84S|ENSP00000219345:S136F	P|S	+|+	1|2	0|0	PLA2G15|PLA2G15	66846689|66846689	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	3.113000|3.113000	0.50376|0.50376	2.701000|2.701000	0.92244|0.92244	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.557	PLA2G15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268888.2	NM_012320		8	28	0	0	0	0.307466	0	8	28				
SCN9A	6335	broad.mit.edu	37	2	167055551	167055551	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:167055551C>A	ENST00000409435.1	-	26	5597	c.5598G>T	c.(5596-5598)agG>agT	p.R1866S	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1867S|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1855S|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1867S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1866					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAGACATGAACCTTTCTTCCA	0.443																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5599-5601)agG>agT		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						172.0	184.0	180.0					2																	167055551		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055551C>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5598G>T	2.37:g.167055551C>A	ENSP00000386330:p.Arg1866Ser					SCN9A_ENST00000375387.4_Missense_Mutation_p.R1867S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1866S|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1855S	p.R1867S			Q15858	SCN9A_HUMAN			27	5941	-			1866					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5601G>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.172421	0.57584	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96011	-3.85;-3.88;-3.88;-3.88	6.07	2.17	0.27698	.	0.000000	0.64402	D	0.000001	D	0.94840	0.8333	L	0.59967	1.855	0.49051	D	0.999741	P	0.47545	0.897	P	0.54664	0.758	D	0.93050	0.6465	10	0.87932	D	0	.	5.5901	0.17297	0.124:0.537:0.0:0.339	.	1855	E7EUN6	.	S	1855;1867;1867;1866	ENSP00000386306:R1855S;ENSP00000364536:R1867S;ENSP00000304748:R1867S;ENSP00000386330:R1866S	ENSP00000304748:R1867S	R	-	3	2	SCN9A	166763797	0.484000	0.25964	1.000000	0.80357	0.998000	0.95712	-0.361000	0.07612	0.842000	0.35045	0.655000	0.94253	AGG		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		13	117	1	0	0.00136819	0.411799	0.00150193	13	117				
SEL1L3	23231	broad.mit.edu	37	4	25783863	25783863	+	Splice_Site	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr4:25783863C>T	ENST00000399878.3	-	15	2580		c.e15+1		SEL1L3_ENST00000264868.5_Splice_Site|SEL1L3_ENST00000502949.1_Splice_Site	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)							integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GTCCTACTCACTTGATTCCTT	0.483																																						ENST00000399878.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						c.e15+1		sel-1 suppressor of lin-12-like 3 (C. elegans)							186.0	180.0	182.0					4																	25783863		1969	4144	6113	SO:0001630	splice_region_variant	23231					integral to membrane	binding	g.chr4:25783863C>T	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2457+1G>A	4.37:g.25783863C>T						SEL1L3_ENST00000502949.1_Splice_Site|SEL1L3_ENST00000264868.5_Splice_Site		NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN			15	2580	-								A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Splice_Site	SNP	ENST00000399878.3	37		CCDS47037.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944873	0.34283	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4757	0.94987	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEL1L3	25392961	1.000000	0.71417	0.999000	0.59377	0.083000	0.17756	6.296000	0.72751	2.601000	0.87937	0.467000	0.42956	.		0.483	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	Intron	34	167	0	0	0	0.779181	0	34	167				
KANK1	23189	broad.mit.edu	37	9	713311	713311	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:713311G>A	ENST00000382303.1	+	7	3197	c.2545G>A	c.(2545-2547)Gca>Aca	p.A849T	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A691T|KANK1_ENST00000382297.2_Missense_Mutation_p.A849T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	849					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CAGTGAACTGGCAGAAGCTTT	0.517																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(2545-2547)Gca>Aca		KN motif and ankyrin repeat domains 1							144.0	138.0	140.0					9																	713311		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:713311G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.2545G>A	9.37:g.713311G>A	ENSP00000371740:p.Ala849Thr					KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.A691T|KANK1_ENST00000382297.2_Missense_Mutation_p.A849T	p.A849T	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	3197	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	849					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.2545G>A	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	31	5.077708	0.94000	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.19105	2.17;2.17;2.17	5.79	4.9	0.64082	.	0.119478	0.37577	N	0.002024	T	0.46600	0.1401	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.973;0.981	T	0.50988	-0.8762	10	0.87932	D	0	.	14.5947	0.68397	0.0695:0.0:0.9305:0.0	.	849;849	Q5W0W1;Q14678	.;KANK1_HUMAN	T	849;849;849;691	ENSP00000371740:A849T;ENSP00000371734:A849T;ENSP00000371730:A691T	ENSP00000346479:A849T	A	+	1	0	KANK1	703311	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.830000	0.86741	1.453000	0.47775	0.655000	0.94253	GCA		0.517	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	180	0	0	0	0.150653	0	4	180				
PDE6A	5145	broad.mit.edu	37	5	149265901	149265901	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:149265901C>T	ENST00000255266.5	-	14	1884	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	589					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	ATGGCCAAGGCCTCTAGGTCC	0.537																																						ENST00000255266.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44						c.(1765-1767)Gcc>Acc		phosphodiesterase 6A, cGMP-specific, rod, alpha							150.0	125.0	133.0					5																	149265901		2203	4300	6503	SO:0001583	missense	5145				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr5:149265901C>T		CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"""Phosphodiesterases"""	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.1765G>A	5.37:g.149265901C>T	ENSP00000255266:p.Ala589Thr						p.A589T	NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		14	1884	-			589					Q0P638	Missense_Mutation	SNP	ENST00000255266.5	37	c.1765G>A	CCDS4299.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667177	0.88251	.	.	ENSG00000132915	ENST00000255266	T	0.76968	-1.06	5.73	5.73	0.89815	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.123777	0.51477	D	0.000094	D	0.82848	0.5126	L	0.46741	1.465	0.46437	D	0.99904	D	0.57571	0.98	P	0.62184	0.899	T	0.79040	-0.1966	10	0.25751	T	0.34	.	17.3904	0.87428	0.0:1.0:0.0:0.0	.	589	P16499	PDE6A_HUMAN	T	589	ENSP00000255266:A589T	ENSP00000255266:A589T	A	-	1	0	PDE6A	149246094	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.319000	0.51983	2.700000	0.92200	0.655000	0.94253	GCC		0.537	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252326.2			10	38	0	0	0	0.335167	0	10	38				
PLBD1	79887	broad.mit.edu	37	12	14659876	14659876	+	Nonsense_Mutation	SNP	G	G	A	rs145582746		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:14659876G>A	ENST00000240617.5	-	9	2015	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	455					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGTTGTATCGCATGATATAT	0.403																																						ENST00000240617.5																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(1363-1365)Cga>Tga		phospholipase B domain containing 1		G	stop/ARG	0,4406		0,0,2203	145.0	130.0	135.0		1363	5.1	1.0	12	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	PLBD1	NM_024829.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		455/554	14659876	1,13005	2203	4300	6503	SO:0001587	stop_gained	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14659876G>A	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1363C>T	12.37:g.14659876G>A	ENSP00000240617:p.Arg455*						p.R455*	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN			9	2015	-			455					A8K4E9|Q9BVV3|Q9H625	Nonsense_Mutation	SNP	ENST00000240617.5	37	c.1363C>T	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	G	43	10.260604	0.99370	0.0	1.16E-4	ENSG00000121316	ENST00000240617	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.3008	11.6216	0.51121	0.0:0.0:0.7737:0.2263	.	.	.	.	X	455	.	ENSP00000240617:R455X	R	-	1	2	PLBD1	14551143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.488000	0.73637	2.396000	0.81511	0.563000	0.77884	CGA		0.403	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829		23	112	0	0	0	0.654019	0	23	112				
USF1	7391	broad.mit.edu	37	1	161011574	161011574	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:161011574C>T	ENST00000368021.3	-	6	543	c.339G>A	c.(337-339)gaG>gaA	p.E113E	TSTD1_ENST00000423014.2_5'Flank|USF1_ENST00000435396.1_Silent_p.E54E|USF1_ENST00000368019.1_Silent_p.E113E|F11R_ENST00000289779.3_5'Flank|TSTD1_ENST00000318289.10_5'Flank|TSTD1_ENST00000368024.1_5'Flank|USF1_ENST00000368020.1_Silent_p.E113E|TSTD1_ENST00000368023.3_5'Flank	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	113					carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TATAGTGCGTCTCAGCAGCTG	0.567											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368021.3																			0				central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(337-339)gaG>gaA		upstream transcription factor 1							95.0	86.0	89.0					1																	161011574		2203	4300	6503	SO:0001819	synonymous_variant	7391				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr1:161011574C>T	BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.339G>A	1.37:g.161011574C>T			OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1813	USF1_ENST00000368020.1_Silent_p.E113E|USF1_ENST00000435396.1_Silent_p.E54E|USF1_ENST00000368019.1_Silent_p.E113E	p.E113E	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		6	543	-	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		113					B2RBZ4|Q5SY46|Q7Z5Y1	Silent	SNP	ENST00000368021.3	37	c.339G>A	CCDS1214.1																																																																																				0.567	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077050.1	NM_007122		17	83	0	0	0	0.539581	0	17	83				
LOC101927079	101927079	broad.mit.edu	37	15	22332442	22332442	+	RNA	SNP	C	C	T	rs575019353	byFrequency	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr15:22332442C>T	ENST00000558896.1	+	0	249																											CGTGACAGAACTTGTTCTTCT	0.353													.|||	16	0.00319489	0.0038	0.0014	5008	,	,		29766	0.0		0.005	False		,,,				2504	0.0051					ENST00000558896.1																			0																																																			101927079							g.chr15:22332442C>T																													15.37:g.22332442C>T														0	249	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.353	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			9	123	0	0	0	0.435327	0	9	123				
ACSM5	54988	broad.mit.edu	37	16	20432686	20432686	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:20432686C>A	ENST00000331849.4	+	5	877	c.730C>A	c.(730-732)Cag>Aag	p.Q244K		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	244					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CGAGCACTCCCAGAGCAGCTA	0.577																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(730-732)Cag>Aag		acyl-CoA synthetase medium-chain family member 5							37.0	37.0	37.0					16																	20432686		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20432686C>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.730C>A	16.37:g.20432686C>A	ENSP00000327916:p.Gln244Lys						p.Q244K	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			5	877	+			244					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.730C>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600946	0.66332	.	.	ENSG00000183549	ENST00000331849	T	0.42131	0.98	4.43	4.43	0.53597	AMP-dependent synthetase/ligase (1);	0.229124	0.30781	N	0.008882	T	0.47340	0.1440	M	0.74389	2.26	0.43347	D	0.995403	B	0.32324	0.364	B	0.34931	0.192	T	0.55095	-0.8194	10	0.59425	D	0.04	-8.8623	15.3494	0.74370	0.0:1.0:0.0:0.0	.	244	Q6NUN0	ACSM5_HUMAN	K	244	ENSP00000327916:Q244K	ENSP00000327916:Q244K	Q	+	1	0	ACSM5	20340187	0.999000	0.42202	0.998000	0.56505	0.652000	0.38707	3.071000	0.50041	2.416000	0.81992	0.655000	0.94253	CAG		0.577	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		8	41	1	0	5.18039e-06	0.278610	5.95541e-06	8	41				
USH2A	7399	broad.mit.edu	37	1	215802185	215802185	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:215802185C>T	ENST00000307340.3	-	71	15876	c.15490G>A	c.(15490-15492)Gaa>Aaa	p.E5164K	USH2A_ENST00000366943.2_Missense_Mutation_p.E5188K|SNORD116_ENST00000365628.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5164					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGATGGCTTCCCACAGTGAG	0.493										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(15562-15564)Gaa>Aaa		Usher syndrome 2A (autosomal recessive, mild)							99.0	101.0	100.0					1																	215802185		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215802185C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.15490G>A	1.37:g.215802185C>T	ENSP00000305941:p.Glu5164Lys	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.E5164K	p.E5188K			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	72	15948	-			5164					Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.15562G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.955626	0.73902	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.46063	0.88;0.88	5.67	5.67	0.87782	.	0.171018	0.27231	U	0.020317	T	0.41096	0.1144	L	0.27053	0.805	0.48975	D	0.999734	P	0.46395	0.877	P	0.45829	0.494	T	0.30851	-0.9964	10	0.56958	D	0.05	.	19.7686	0.96352	0.0:1.0:0.0:0.0	.	5164	O75445	USH2A_HUMAN	K	5164;5188	ENSP00000305941:E5164K;ENSP00000355910:E5188K	ENSP00000305941:E5164K	E	-	1	0	USH2A	213868808	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	7.280000	0.78610	2.665000	0.90641	0.591000	0.81541	GAA		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	104	0	0	0	0.387290	0	9	104				
INSR	3643	broad.mit.edu	37	19	7122639	7122639	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:7122639G>A	ENST00000302850.5	-	19	3657	c.3515C>T	c.(3514-3516)aCt>aTt	p.T1172I	INSR_ENST00000341500.5_Missense_Mutation_p.T1160I	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AATTTTGACAGTAAAATCATG	0.488																																						ENST00000341500.5																			0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(3478-3480)aCt>aTt		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						85.0	83.0	83.0					19																	7122639		2203	4300	6503	SO:0001583	missense	3643				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7122639G>A	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.3515C>T	19.37:g.7122639G>A	ENSP00000303830:p.Thr1172Ile					INSR_ENST00000302850.5_Missense_Mutation_p.T1172I	p.T1160I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN			18	3518	-			1172			Protein kinase.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.3479C>T	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.897705	0.72639	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	D;D	0.89123	-2.47;-2.47	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.46145	U	0.000315	D	0.89584	0.6757	L	0.28776	0.89	0.80722	D	1	D;P	0.54601	0.967;0.929	P;P	0.58077	0.822;0.832	D	0.90450	0.4438	10	0.56958	D	0.05	.	16.4715	0.84112	0.0:0.0:1.0:0.0	.	1160;1172	P06213-2;P06213	.;INSR_HUMAN	I	1172;1160	ENSP00000303830:T1172I;ENSP00000342838:T1160I	ENSP00000303830:T1172I	T	-	2	0	INSR	7073639	1.000000	0.71417	0.943000	0.38184	0.539000	0.34962	9.316000	0.96319	2.482000	0.83794	0.478000	0.44815	ACT		0.488	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1			3	94	0	0	0	0.184627	0	3	94				
EPHA4	2043	broad.mit.edu	37	2	222429107	222429107	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:222429107T>G	ENST00000281821.2	-	3	208	c.167A>C	c.(166-168)gAa>gCa	p.E56A	EPHA4_ENST00000409854.1_Missense_Mutation_p.E56A|EPHA4_ENST00000392071.4_Missense_Mutation_p.E5A|EPHA4_ENST00000409938.1_Missense_Mutation_p.E56A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	56	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GATACTCACTTCCTCCCACTG	0.403																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(166-168)gAa>gCa		EPH receptor A4							105.0	103.0	104.0					2																	222429107		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222429107T>G	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.167A>C	2.37:g.222429107T>G	ENSP00000281821:p.Glu56Ala					EPHA4_ENST00000409854.1_Missense_Mutation_p.E56A|EPHA4_ENST00000392071.4_Missense_Mutation_p.E5A|EPHA4_ENST00000409938.1_Missense_Mutation_p.E56A	p.E56A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	208	-		Renal(207;0.0183)	56					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.167A>C	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846340	0.71603	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000541600;ENST00000434266	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	6.17	6.17	0.99709	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.36054	0.0953	M	0.82716	2.605	0.80722	D	1	D	0.55605	0.972	P	0.55749	0.783	T	0.10706	-1.0618	10	0.45353	T	0.12	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	56	P54764	EPHA4_HUMAN	A	56;56;56;5;56;56	ENSP00000281821:E56A;ENSP00000386276:E56A;ENSP00000386829:E56A;ENSP00000375923:E5A;ENSP00000444085:E56A;ENSP00000404089:E56A	ENSP00000281821:E56A	E	-	2	0	EPHA4	222137351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	GAA		0.403	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			30	118	0	0	0	0.717897	0	30	118				
SCN10A	6336	broad.mit.edu	37	3	38793780	38793780	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:38793780G>T	ENST00000449082.2	-	11	1684	c.1685C>A	c.(1684-1686)tCc>tAc	p.S562Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	562					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TCCATGCCTGGAGTCAGGGTT	0.607																																						ENST00000449082.2																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(1684-1686)tCc>tAc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						124.0	126.0	125.0					3																	38793780		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38793780G>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.1685C>A	3.37:g.38793780G>T	ENSP00000390600:p.Ser562Tyr						p.S562Y	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	11	1684	-			562					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.1685C>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	2.145	-0.395939	0.04899	.	.	ENSG00000185313	ENST00000449082	D	0.95788	-3.81	4.46	-0.575	0.11734	.	5.583850	0.00397	N	0.000046	D	0.86377	0.5918	N	0.08118	0	0.09310	N	1	P	0.49559	0.925	B	0.40825	0.341	T	0.81924	-0.0710	10	0.02654	T	1	.	5.2563	0.15548	0.3179:0.1362:0.5459:0.0	.	562	Q9Y5Y9	SCNAA_HUMAN	Y	562	ENSP00000390600:S562Y	ENSP00000390600:S562Y	S	-	2	0	SCN10A	38768784	0.000000	0.05858	0.013000	0.15412	0.123000	0.20343	-0.146000	0.10250	-0.241000	0.09681	-0.355000	0.07637	TCC		0.607	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		24	76	1	0	7.07758e-08	0.681144	8.53989e-08	24	76				
NPC1L1	29881	broad.mit.edu	37	7	44560609	44560609	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:44560609T>C	ENST00000289547.4	-	13	3117	c.3062A>G	c.(3061-3063)aAc>aGc	p.N1021S	NPC1L1_ENST00000381160.3_Missense_Mutation_p.N1021S|NPC1L1_ENST00000546276.1_Missense_Mutation_p.N975S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1021					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACATTTGATGTTGGGCCGGTC	0.547																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(3061-3063)aAc>aGc		NPC1-like 1	Ezetimibe(DB00973)						156.0	161.0	159.0					7																	44560609		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44560609T>C		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3062A>G	7.37:g.44560609T>C	ENSP00000289547:p.Asn1021Ser					NPC1L1_ENST00000546276.1_Missense_Mutation_p.N975S|NPC1L1_ENST00000381160.3_Missense_Mutation_p.N1021S	p.N1021S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			13	3117	-			1021					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.3062A>G	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.557593	0.45590	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.92495	-2.98;-2.97;-3.05	5.35	5.35	0.76521	.	0.170278	0.49916	D	0.000139	D	0.88662	0.6497	N	0.16368	0.405	0.35606	D	0.80824	B;B;D;D	0.59357	0.112;0.057;0.981;0.985	B;B;P;P	0.54759	0.119;0.038;0.76;0.658	D	0.87496	0.2430	10	0.11182	T	0.66	-37.4265	13.2735	0.60175	0.0:0.0:0.0:1.0	.	975;1021;1021;1021	B7ZLE6;Q17RV5;D3DVK9;Q9UHC9	.;.;.;NPCL1_HUMAN	S	1021;1021;975	ENSP00000289547:N1021S;ENSP00000370552:N1021S;ENSP00000438033:N975S	ENSP00000289547:N1021S	N	-	2	0	NPC1L1	44527134	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.451000	0.52964	2.040000	0.60383	0.528000	0.53228	AAC		0.547	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		50	264	0	0	0	0.870114	0	50	264				
DHODH	1723	broad.mit.edu	37	16	72057436	72057436	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:72057436G>A	ENST00000219240.4	+	8	1058	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	DHODH_ENST00000572887.1_Missense_Mutation_p.R344Q	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	346			R -> W (in POADS). {ECO:0000269|PubMed:19915526}.		'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of apoptotic process (GO:0043065)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|regulation of mitochondrial fission (GO:0090140)|response to caffeine (GO:0031000)|response to drug (GO:0042493)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|neuronal cell body (GO:0043025)	dihydroorotate dehydrogenase activity (GO:0004152)|dihydroorotate oxidase activity (GO:0004158)|drug binding (GO:0008144)|FMN binding (GO:0010181)|ubiquinone binding (GO:0048039)			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)|Teriflunomide(DB08880)	GAGAAGATCCGGGCAGGGGCC	0.607																																						ENST00000572887.1																			0				breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10						c.(1030-1032)cGg>cAg		dihydroorotate dehydrogenase (quinone)	Atovaquone(DB01117)|Leflunomide(DB01097)						67.0	76.0	73.0					16																	72057436		2020	4177	6197	SO:0001583	missense	1723				'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	g.chr16:72057436G>A		CCDS42192.1	16q22.2	2012-10-02	2011-09-05		ENSG00000102967	ENSG00000102967	1.3.5.2		2867	protein-coding gene	gene with protein product		126064	"""dihydroorotate dehydrogenase"""			8211381	Standard	NM_001361		Approved		uc002fbp.3	Q02127	OTTHUMG00000178093	ENST00000219240.4:c.1037G>A	16.37:g.72057436G>A	ENSP00000219240:p.Arg346Gln					DHODH_ENST00000219240.4_Missense_Mutation_p.R346Q	p.R344Q			Q02127	PYRD_HUMAN			8	1208	+		Ovarian(137;0.125)	346					A8K8C8|Q6P176	Missense_Mutation	SNP	ENST00000219240.4	37	c.1031G>A	CCDS42192.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652540	0.67472	.	.	ENSG00000102967	ENST00000219240	D	0.94232	-3.38	5.48	2.25	0.28309	Aldolase-type TIM barrel (1);Dihydroorotate dehydrogenase, conserved site (1);	0.161254	0.56097	N	0.000021	D	0.89178	0.6641	L	0.56340	1.77	0.52099	D	0.999947	B	0.26876	0.162	B	0.22753	0.041	T	0.82772	-0.0292	10	0.49607	T	0.09	-10.9133	7.9514	0.30017	0.2927:0.0:0.7073:0.0	.	346	Q02127	PYRD_HUMAN	Q	346	ENSP00000219240:R346Q	ENSP00000219240:R346Q	R	+	2	0	DHODH	70614937	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	3.791000	0.55469	0.231000	0.21079	0.561000	0.74099	CGG		0.607	DHODH-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001361		29	113	0	0	0	0.717897	0	29	113				
CACNA1G	8913	broad.mit.edu	37	17	48699100	48699100	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:48699100A>T	ENST00000359106.5	+	35	6005	c.6005A>T	c.(6004-6006)gAt>gTt	p.D2002V	CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1931V|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.D1968V|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1991V|CACNA1G_ENST00000442258.2_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2002					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCTGACGGATGACTCTTTG	0.547																																						ENST00000354983.4																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(5902-5904)gAt>gTt		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						142.0	136.0	138.0					17																	48699100		2124	4237	6361	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48699100A>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6005A>T	17.37:g.48699100A>T	ENSP00000352011:p.Asp2002Val					CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.D2002V|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.D1991V|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.D1931V|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000510115.1_Intron	p.D1968V	NM_198396.2	NP_938406.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		33	6275	+	Breast(11;6.7e-17)		2002					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.5903A>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	a	21.1	4.103094	0.76983	.	.	ENSG00000006283	ENST00000354983;ENST00000502264;ENST00000507336;ENST00000359106	D;D;D;D	0.97186	-4.24;-4.28;-4.25;-4.26	4.7	3.62	0.41486	.	1.920660	0.02294	N	0.070586	D	0.97639	0.9226	L	0.47190	1.495	0.58432	D	0.999999	P;D;D;P	0.76494	0.879;0.999;0.999;0.828	B;D;D;B	0.83275	0.399;0.996;0.936;0.297	D	0.92664	0.6144	10	0.24483	T	0.36	.	9.6207	0.39719	0.9166:0.0:0.0834:0.0	.	1931;1991;1979;2002	O43497-10;Q19QZ7;O43497-4;O43497	.;.;.;CAC1G_HUMAN	V	1968;1931;1991;2002	ENSP00000347078:D1968V;ENSP00000425522:D1931V;ENSP00000420918:D1991V;ENSP00000352011:D2002V	ENSP00000347078:D1968V	D	+	2	0	CACNA1G	46054099	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.001000	0.76297	1.735000	0.51646	0.379000	0.24179	GAT		0.547	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		5	67	0	0	0	0.184627	0	5	67				
SLC7A14	57709	broad.mit.edu	37	3	170198588	170198588	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:170198588G>T	ENST00000231706.5	-	7	1798	c.1483C>A	c.(1483-1485)Ctc>Atc	p.L495I	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	495					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTCCCTATGAGCATCTCATTG	0.498																																						ENST00000231706.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53						c.(1483-1485)Ctc>Atc		solute carrier family 7, member 14							214.0	217.0	216.0					3																	170198588		2203	4300	6503	SO:0001583	missense	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198588G>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1483C>A	3.37:g.170198588G>T	ENSP00000231706:p.Leu495Ile					CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	p.L495I	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	1798	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		495					B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	c.1483C>A	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.848076	0.71603	.	.	ENSG00000013293	ENST00000231706	D	0.89123	-2.47	5.18	5.18	0.71444	.	0.209855	0.42548	D	0.000688	D	0.91908	0.7438	L	0.54323	1.7	0.54753	D	0.999983	D	0.67145	0.996	P	0.58266	0.836	D	0.91628	0.5316	10	0.45353	T	0.12	.	18.68	0.91544	0.0:0.0:1.0:0.0	.	495	Q8TBB6	S7A14_HUMAN	I	495	ENSP00000231706:L495I	ENSP00000231706:L495I	L	-	1	0	SLC7A14	171681282	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.144000	0.71762	2.408000	0.81797	0.655000	0.94253	CTC		0.498	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		38	257	1	0	2.05212e-20	0.812448	2.56076e-20	38	257				
LCP1	3936	broad.mit.edu	37	13	46725072	46725072	+	Splice_Site	SNP	T	T	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:46725072T>C	ENST00000398576.2	-	11	1269	c.881A>G	c.(880-882)aAg>aGg	p.K294R	LCP1_ENST00000323076.2_Splice_Site_p.K294R			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	294	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TCCTCCTACCTTGATGTCAGT	0.448			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.e11+1		lymphocyte cytosolic protein 1 (L-plastin)							126.0	113.0	117.0					13																	46725072		2203	4300	6503	SO:0001630	splice_region_variant	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46725072T>C	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.882+1A>G	13.37:g.46725072T>C						LCP1_ENST00000323076.2_Splice_Site_p.K294_splice	p.K294_splice			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	11	1269	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	294			Actin-binding 1.|CH 2.		B2R613|B4DUA0|Q5TBN4	Splice_Site	SNP	ENST00000398576.2	37	c.882_splice	CCDS9403.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.666362	0.67814	.	.	ENSG00000136167	ENST00000323076;ENST00000398576	D;D	0.94966	-3.57;-3.57	5.79	5.79	0.91817	Calponin homology domain (5);	0.047201	0.85682	D	0.000000	D	0.96953	0.9005	M	0.77820	2.39	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.97184	0.9853	10	0.56958	D	0.05	-27.8096	15.3042	0.73979	0.0:0.0:0.0:1.0	.	294	P13796	PLSL_HUMAN	R	294	ENSP00000315757:K294R;ENSP00000381581:K294R	ENSP00000315757:K294R	K	-	2	0	LCP1	45623073	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.698000	0.84413	2.202000	0.70862	0.533000	0.62120	AAG		0.448	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298	Missense_Mutation	51	99	0	0	0	0.870114	0	51	99				
TSPAN8	7103	broad.mit.edu	37	12	71531971	71531971	+	Missense_Mutation	SNP	C	C	A	rs140330026		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:71531971C>A	ENST00000393330.2	-	8	853	c.301G>T	c.(301-303)Gcg>Tcg	p.A101S	TSPAN8_ENST00000552786.1_5'Flank|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A101S|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A101S|TSPAN8_ENST00000552128.1_Missense_Mutation_p.A18S			P19075	TSN8_HUMAN	tetraspanin 8	101					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			ATACCTGTCGCCACCTGCAGG	0.393																																						ENST00000393330.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19						c.(301-303)Gcg>Tcg		tetraspanin 8							119.0	136.0	130.0					12																	71531971		2203	4300	6503	SO:0001583	missense	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71531971C>A	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.301G>T	12.37:g.71531971C>A	ENSP00000377003:p.Ala101Ser					TSPAN8_ENST00000552128.1_Missense_Mutation_p.A18S|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A101S|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A101S	p.A101S			P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		8	853	-			101					B2R7T7|Q9BS78	Missense_Mutation	SNP	ENST00000393330.2	37	c.301G>T	CCDS8999.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147983	0.37923	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.71	0.787	0.18596	.	0.554792	0.20488	N	0.091353	D	0.82513	0.5053	M	0.82517	2.595	0.09310	N	1	D	0.53619	0.961	P	0.53912	0.737	T	0.73202	-0.4057	10	0.62326	D	0.03	.	1.3978	0.02264	0.1401:0.424:0.1358:0.3001	.	101	P19075	TSN8_HUMAN	S	101;101;101;18	ENSP00000377003:A101S;ENSP00000247829:A101S;ENSP00000447160:A101S;ENSP00000449820:A18S	ENSP00000247829:A101S	A	-	1	0	TSPAN8	69818238	0.001000	0.12720	0.003000	0.11579	0.073000	0.16967	0.255000	0.18333	-0.119000	0.11830	-0.826000	0.03091	GCG		0.393	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616		28	144	1	0	1.32181e-22	0.717897	1.66366e-22	28	144				
ICE1	23379	broad.mit.edu	37	5	5461594	5461594	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:5461594A>T	ENST00000296564.7	+	13	2369	c.2147A>T	c.(2146-2148)aAt>aTt	p.N716I		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		716					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCTAATTTTAATGATCAGAAG	0.398																																						ENST00000296564.7																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						c.(2146-2148)aAt>aTt		KIAA0947							52.0	51.0	51.0					5																	5461594		1847	4103	5950	SO:0001583	missense	23379							g.chr5:5461594A>T																												ENST00000296564.7:c.2147A>T	5.37:g.5461594A>T	ENSP00000296564:p.Asn716Ile						p.N716I	NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN			13	2369	+			716					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	ENST00000296564.7	37	c.2147A>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149735	0.57151	.	.	ENSG00000164151	ENST00000296564	T	0.10477	2.87	4.41	-5.98	0.02220	.	1.332560	0.04582	N	0.395049	T	0.05593	0.0147	N	0.24115	0.695	0.09310	N	1	P	0.43701	0.815	B	0.36885	0.235	T	0.31558	-0.9939	10	0.72032	D	0.01	-1.9336	2.9408	0.05829	0.2742:0.1428:0.443:0.14	.	716	Q9Y2F5	K0947_HUMAN	I	716	ENSP00000296564:N716I	ENSP00000296564:N716I	N	+	2	0	KIAA0947	5514594	0.000000	0.05858	0.000000	0.03702	0.447000	0.32167	-1.158000	0.03153	-0.857000	0.04115	0.254000	0.18369	AAT		0.398	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			22	36	0	0	0	0.639603	0	22	36				
CRACR2A	84766	broad.mit.edu	37	12	3788183	3788183	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:3788183T>A	ENST00000252322.1	-	6	890	c.422A>T	c.(421-423)tAt>tTt	p.Y141F	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Y141F|EFCAB4B_ENST00000440314.2_Missense_Mutation_p.Y141F	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		141					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTGGACAGATACACCTTCTC	0.557																																						ENST00000440314.2																			0				breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24						c.(421-423)tAt>tTt		EF-hand calcium binding domain 4B							189.0	153.0	165.0					12																	3788183		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788183T>A																												ENST00000252322.1:c.422A>T	12.37:g.3788183T>A	ENSP00000252322:p.Tyr141Phe					EFCAB4B_ENST00000444507.1_Missense_Mutation_p.Y141F|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.Y141F	p.Y141F	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		6	895	-			141					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.422A>T	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626837	0.46840	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.61510	0.1;2.57;2.57	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.61350	0.2340	L	0.46947	1.48	0.46336	D	0.998993	D;D;D	0.65815	0.995;0.972;0.982	P;P;P	0.56563	0.801;0.737;0.664	T	0.59037	-0.7529	10	0.31617	T	0.26	-12.8028	10.9292	0.47207	0.0:0.0:0.0:1.0	.	141;141;141	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	F	141	ENSP00000409382:Y141F;ENSP00000412496:Y141F;ENSP00000252322:Y141F	ENSP00000252322:Y141F	Y	-	2	0	EFCAB4B	3658444	1.000000	0.71417	0.994000	0.49952	0.298000	0.27526	2.656000	0.46716	1.837000	0.53436	0.459000	0.35465	TAT		0.557	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1			13	110	0	0	0	0.500413	0	13	110				
TBCK	93627	broad.mit.edu	37	4	107156504	107156504	+	Missense_Mutation	SNP	G	G	T	rs532862191		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr4:107156504G>T	ENST00000273980.5	-	16	1818	c.1371C>A	c.(1369-1371)aaC>aaA	p.N457K	TBCK_ENST00000361687.4_Missense_Mutation_p.N394K|TBCK_ENST00000394706.3_Missense_Mutation_p.N418K|TBCK_ENST00000394708.2_Missense_Mutation_p.N457K|TBCK_ENST00000432496.2_Missense_Mutation_p.N457K					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCCAGATTTGGTTTTTTTTAT	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14482	0.0		0.0	False		,,,				2504	0.0					ENST00000273980.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1369-1371)aaC>aaA		TBC1 domain containing kinase																																				SO:0001583	missense	93627					intracellular	Rab GTPase activator activity	g.chr4:107156504G>T		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1371C>A	4.37:g.107156504G>T	ENSP00000273980:p.Asn457Lys					TBCK_ENST00000432496.2_Missense_Mutation_p.N457K|TBCK_ENST00000394706.3_Missense_Mutation_p.N418K|TBCK_ENST00000394708.2_Missense_Mutation_p.N457K|TBCK_ENST00000361687.4_Missense_Mutation_p.N394K	p.N457K			Q8TEA7	TBCK_HUMAN			16	1818	-			457						Missense_Mutation	SNP	ENST00000273980.5	37	c.1371C>A	CCDS54788.1	.	.	.	.	.	.	.	.	.	.	G	13.00	2.104986	0.37145	.	.	ENSG00000145348	ENST00000273980;ENST00000432496;ENST00000361687;ENST00000394706;ENST00000394708	T;T;T;T;T	0.09817	2.94;2.94;2.94;2.94;2.94	5.9	0.724	0.18236	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.06645	0.0170	L	0.34521	1.04	0.48087	D	0.999586	B;P;B	0.43094	0.013;0.799;0.012	B;B;B	0.33620	0.003;0.167;0.022	T	0.39396	-0.9616	10	0.34782	T	0.22	.	10.6525	0.45657	0.6634:0.0:0.3366:0.0	.	457;418;394	Q8TEA7;Q8TEA7-2;Q8TEA7-3	TBCK_HUMAN;.;.	K	457;457;394;418;457	ENSP00000273980:N457K;ENSP00000405847:N457K;ENSP00000355338:N394K;ENSP00000378196:N418K;ENSP00000378198:N457K	ENSP00000273980:N457K	N	-	3	2	TBCK	107375953	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.665000	0.46791	0.157000	0.19338	-1.027000	0.02421	AAC		0.363	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	NM_033115		3	27	1	0	0.115264	0.115264	0.121069	3	27				
MAMLD1	10046	broad.mit.edu	37	X	149639239	149639239	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chrX:149639239G>T	ENST00000370401.2	+	4	1704	c.1394G>T	c.(1393-1395)aGc>aTc	p.S465I	MAMLD1_ENST00000432680.2_Missense_Mutation_p.S440I|MAMLD1_ENST00000426613.2_Missense_Mutation_p.S440I|MAMLD1_ENST00000262858.5_Missense_Mutation_p.S465I|MAMLD1_ENST00000455522.2_5'Flank			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	465					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTCTCTAGCCCAGGCTTG	0.582																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1393-1395)aGc>aTc		mastermind-like domain containing 1							76.0	77.0	76.0					X																	149639239		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639239G>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1394G>T	X.37:g.149639239G>T	ENSP00000359428:p.Ser465Ile					MAMLD1_ENST00000426613.2_Missense_Mutation_p.S440I|MAMLD1_ENST00000262858.5_Missense_Mutation_p.S465I|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S440I	p.S465I			Q13495	MAMD1_HUMAN			4	1704	+	Acute lymphoblastic leukemia(192;6.56e-05)		465					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1394G>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792866	0.50102	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.91635	0.999;0.996;0.999;0.996	D	0.86897	0.2052	9	.	.	.	-20.1256	18.66	0.91469	0.0:0.0:1.0:0.0	.	427;440;440;465	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	I	427;465;440;465;440	ENSP00000359428:S465I;ENSP00000414517:S440I;ENSP00000262858:S465I;ENSP00000397438:S440I	.	S	+	2	0	MAMLD1	149389897	1.000000	0.71417	0.997000	0.53966	0.147000	0.21601	5.736000	0.68597	2.351000	0.79841	0.600000	0.82982	AGC		0.582	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		18	183	1	0	2.48551e-13	0.520397	3.04944e-13	18	183				
CEP95	90799	broad.mit.edu	37	17	62533733	62533733	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:62533733G>T	ENST00000556440.2	+	20	2812	c.2302G>T	c.(2302-2304)Gtg>Ttg	p.V768L	CEP95_ENST00000553412.1_Missense_Mutation_p.V604L	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	768						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						ATTACATAAGGTGAAGAGGGA	0.443																																						ENST00000556440.2																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						c.(2302-2304)Gtg>Ttg		centrosomal protein 95kDa							72.0	70.0	70.0					17																	62533733		1978	4164	6142	SO:0001583	missense	90799					centrosome|spindle pole	protein binding	g.chr17:62533733G>T	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2302G>T	17.37:g.62533733G>T	ENSP00000450461:p.Val768Leu					CEP95_ENST00000553412.1_Missense_Mutation_p.V604L	p.V768L	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN			20	2812	+			768					B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.2302G>T	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678754	0.47886	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.31769	1.5;1.48	5.91	3.51	0.40186	.	0.335412	0.33534	N	0.004815	T	0.20941	0.0504	L	0.40543	1.245	0.30489	N	0.771534	B	0.21071	0.051	B	0.17433	0.018	T	0.09796	-1.0658	10	0.42905	T	0.14	-3.8475	4.2632	0.10750	0.3185:0.0:0.518:0.1635	.	768	Q96GE4	CEP95_HUMAN	L	703;768;604	ENSP00000450461:V768L;ENSP00000450906:V604L	ENSP00000438458:V703L	V	+	1	0	CEP95	59964195	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	2.821000	0.48065	1.347000	0.45714	0.462000	0.41574	GTG		0.443	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		5	29	1	0	0.0215528	0.217242	0.0229686	5	29				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	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		4	144	0	0	0	0.150653	0	4	144				
ZMYM5	9205	broad.mit.edu	37	13	20399104	20399104	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:20399104T>G	ENST00000337963.4	-	8	1787	c.1523A>C	c.(1522-1524)aAt>aCt	p.N508T		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	508						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		gtcttcaaaatttttctcttc	0.413																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(1522-1524)aAt>aCt		zinc finger, MYM-type 5							59.0	53.0	55.0					13																	20399104		1568	3582	5150	SO:0001583	missense	9205					nucleus	zinc ion binding	g.chr13:20399104T>G	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.1523A>C	13.37:g.20399104T>G	ENSP00000337034:p.Asn508Thr						p.N508T	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	8	1787	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	508					B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	Missense_Mutation	SNP	ENST00000337963.4	37	c.1523A>C		.	.	.	.	.	.	.	.	.	.	T	11.49	1.653615	0.29425	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	T;T	0.18338	2.22;2.22	2.62	-1.78	0.07957	.	0.409858	0.27105	U	0.020905	T	0.09555	0.0235	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27640	-1.0068	10	0.20519	T	0.43	.	3.9328	0.09293	0.0:0.1404:0.4501:0.4095	.	508	Q9UJ78	ZMYM5_HUMAN	T	508;498	ENSP00000337034:N508T;ENSP00000445779:N498T	ENSP00000337034:N508T	N	-	2	0	ZMYM5	19297104	0.000000	0.05858	0.009000	0.14445	0.851000	0.48451	-1.002000	0.03686	-0.345000	0.08325	0.254000	0.18369	AAT		0.413	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		2	14	0	0	0	0.115264	0	2	14				
PRDM10	56980	broad.mit.edu	37	11	129794873	129794873	+	Silent	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:129794873G>A	ENST00000360871.3	-	12	2013	c.1782C>T	c.(1780-1782)gaC>gaT	p.D594D	PRDM10_ENST00000423662.2_Silent_p.D512D|PRDM10_ENST00000528746.1_Silent_p.D568D|PRDM10_ENST00000526082.1_Silent_p.D512D|PRDM10_ENST00000358825.5_Silent_p.D598D|PRDM10_ENST00000304538.6_Silent_p.D508D	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AATCAAGGCGGTCAAAGGATT	0.453																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(1792-1794)gaC>gaT		PR domain containing 10							146.0	147.0	147.0					11																	129794873		2201	4297	6498	SO:0001819	synonymous_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129794873G>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1782C>T	11.37:g.129794873G>A						PRDM10_ENST00000528746.1_Silent_p.D568D|PRDM10_ENST00000526082.1_Silent_p.D512D|PRDM10_ENST00000304538.6_Silent_p.D508D|PRDM10_ENST00000360871.3_Silent_p.D594D|PRDM10_ENST00000423662.2_Silent_p.D512D	p.D598D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	13	2025	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	598					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Silent	SNP	ENST00000360871.3	37	c.1794C>T	CCDS8484.1																																																																																				0.453	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		4	198	0	0	0	0.184627	0	4	198				
TERT	7015	broad.mit.edu	37	5	1294259	1294259	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:1294259G>A	ENST00000310581.5	-	2	799	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TERT_ENST00000296820.5_Missense_Mutation_p.R248W|TERT_ENST00000334602.6_Missense_Mutation_p.R248W|TERT_ENST00000522877.1_5'Flank|TERT_ENST00000508104.2_Missense_Mutation_p.R248W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	248	Linker.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	ACGGGCGTCCGCTCCGGCTCA	0.736									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(742-744)Cgg>Tgg		telomerase reverse transcriptase							9.0	10.0	10.0					5																	1294259		2152	4224	6376	SO:0001583	missense	7015	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1294259G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.742C>T	5.37:g.1294259G>A	ENSP00000309572:p.Arg248Trp					TERT_ENST00000334602.6_Missense_Mutation_p.R248W|TERT_ENST00000296820.5_Missense_Mutation_p.R248W|TERT_ENST00000508104.2_Missense_Mutation_p.R248W	p.R248W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		2	799	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		248			Linker.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.742C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873560	0.33069	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.97328	-4.34;-4.34;-4.25;-4.34	3.21	-0.00544	0.14018	.	1.238670	0.05771	N	0.606678	D	0.94568	0.8250	L	0.29908	0.895	0.09310	N	1	D;D;D	0.67145	0.996;0.993;0.993	P;B;B	0.47573	0.55;0.348;0.348	D	0.88066	0.2797	10	0.87932	D	0	-9.34	7.4975	0.27498	0.0:0.3385:0.4878:0.1737	.	248;248;248	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	W	248	ENSP00000309572:R248W;ENSP00000296820:R248W;ENSP00000334346:R248W;ENSP00000426042:R248W	ENSP00000296820:R248W	R	-	1	2	TERT	1347259	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.155000	0.10115	-0.147000	0.11254	0.462000	0.41574	CGG		0.736	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			3	8	0	0	0	0.150653	0	3	8				
PSIP1	11168	broad.mit.edu	37	9	15465561	15465561	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr9:15465561C>G	ENST00000380733.4	-	16	1893	c.1550G>C	c.(1549-1551)aGa>aCa	p.R517T	PSIP1_ENST00000380738.4_Missense_Mutation_p.R517T			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	517					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTCAGTCTCTCTCTCTTCACT	0.363																																						ENST00000380733.4																			0				breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9						c.(1549-1551)aGa>aCa		PC4 and SFRS1 interacting protein 1							99.0	107.0	105.0					9																	15465561		2203	4299	6502	SO:0001583	missense	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15465561C>G	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1550G>C	9.37:g.15465561C>G	ENSP00000370109:p.Arg517Thr					PSIP1_ENST00000380738.4_Missense_Mutation_p.R517T	p.R517T			O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	16	1893	-			517					D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Missense_Mutation	SNP	ENST00000380733.4	37	c.1550G>C	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319471	0.41096	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	T;T	0.44083	0.93;0.93	5.37	4.47	0.54385	.	0.129889	0.56097	D	0.000040	T	0.28234	0.0697	N	0.19112	0.55	0.80722	D	1	B	0.23058	0.079	B	0.18263	0.021	T	0.08371	-1.0725	10	0.52906	T	0.07	.	11.3463	0.49563	0.0:0.9155:0.0:0.0845	.	517	O75475	PSIP1_HUMAN	T	517	ENSP00000370109:R517T;ENSP00000370114:R517T	ENSP00000370109:R517T	R	-	2	0	PSIP1	15455561	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.987000	0.29603	1.492000	0.48499	0.585000	0.79938	AGA		0.363	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222		24	148	0	0	0	0.706142	0	24	148				
ARFGEF1	10565	broad.mit.edu	37	8	68151121	68151121	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:68151121C>T	ENST00000262215.3	-	21	3376	c.2987G>A	c.(2986-2988)aGa>aAa	p.R996K	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R450K|ARFGEF1_ENST00000518230.1_5'Flank	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	996					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATATGCATCTCTCTCCAGCTA	0.358																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(2986-2988)aGa>aAa		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							111.0	100.0	104.0					8																	68151121		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68151121C>T	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.2987G>A	8.37:g.68151121C>T	ENSP00000262215:p.Arg996Lys					ARFGEF1_ENST00000520381.1_Missense_Mutation_p.R450K	p.R996K	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		21	3376	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	996					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.2987G>A	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265813	0.95399	.	.	ENSG00000066777	ENST00000520381;ENST00000262215	T;T	0.57595	0.39;0.39	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75664	0.3880	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.85130	0.997;0.831	T	0.78800	-0.2062	10	0.87932	D	0	.	19.3677	0.94471	0.0:1.0:0.0:0.0	.	996;450	Q9Y6D6;E5RIF2	BIG1_HUMAN;.	K	450;996	ENSP00000428429:R450K;ENSP00000262215:R996K	ENSP00000262215:R996K	R	-	2	0	ARFGEF1	68313675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.766000	0.85320	2.628000	0.89032	0.650000	0.86243	AGA		0.358	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		16	66	0	0	0	0.500413	0	16	66				
DNAH5	1767	broad.mit.edu	37	5	13807734	13807734	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:13807734T>A	ENST00000265104.4	-	47	7957	c.7853A>T	c.(7852-7854)aAt>aTt	p.N2618I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2618	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAAGAAAAATTCAGACTCTT	0.388									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(7852-7854)aAt>aTt		dynein, axonemal, heavy chain 5							139.0	131.0	133.0					5																	13807734		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13807734T>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7853A>T	5.37:g.13807734T>A	ENSP00000265104:p.Asn2618Ile						p.N2618I	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			47	7957	-	Lung NSC(4;0.00476)		2618			AAA 3 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7853A>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783671	0.90282	.	.	ENSG00000039139	ENST00000265104	T	0.35421	1.31	5.87	5.87	0.94306	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.70579	0.3240	H	0.94222	3.51	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.80016	-0.1559	10	0.87932	D	0	.	16.2853	0.82717	0.0:0.0:0.0:1.0	.	2618	Q8TE73	DYH5_HUMAN	I	2618	ENSP00000265104:N2618I	ENSP00000265104:N2618I	N	-	2	0	DNAH5	13860734	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.040000	0.89188	2.236000	0.73375	0.528000	0.53228	AAT		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		7	24	0	0	0	0.248553	0	7	24				
HOOK1	51361	broad.mit.edu	37	1	60309254	60309254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:60309254C>T	ENST00000371208.3	+	9	1029	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q216*|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	258	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AGAACAATTACAGGAAGAAAA	0.328																																						ENST00000371208.3																			0				biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29						c.(772-774)Cag>Tag		hook microtubule-tethering protein 1							54.0	55.0	54.0					1																	60309254		2201	4299	6500	SO:0001587	stop_gained	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60309254C>T	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.772C>T	1.37:g.60309254C>T	ENSP00000360252:p.Gln258*					HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q216*|HOOK1_ENST00000465876.1_3'UTR	p.Q258*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN			9	1029	+	all_cancers(7;0.000129)		258			Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Nonsense_Mutation	SNP	ENST00000371208.3	37	c.772C>T	CCDS612.1	.	.	.	.	.	.	.	.	.	.	C	40	8.107020	0.98657	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	.	.	.	X	258;216	.	ENSP00000360252:Q258X	Q	+	1	0	HOOK1	60081842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.297000	0.65704	2.941000	0.99782	0.655000	0.94253	CAG		0.328	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		6	60	0	0	0	0.217242	0	6	60				
MON2	23041	broad.mit.edu	37	12	62954394	62954394	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:62954394C>A	ENST00000393632.2	+	26	3924	c.3533C>A	c.(3532-3534)cCt>cAt	p.P1178H	MON2_ENST00000393630.3_Missense_Mutation_p.P1179H|MON2_ENST00000393629.2_Missense_Mutation_p.P1178H|MON2_ENST00000546600.1_Missense_Mutation_p.P1178H|MON2_ENST00000280379.6_Missense_Mutation_p.P1179H|MON2_ENST00000552738.1_Missense_Mutation_p.P1155H	NM_015026.2	NP_055841.2	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1178					actin cytoskeleton organization (GO:0030036)|Golgi to endosome transport (GO:0006895)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ATTGTGTCCCCTGTCAGAGAC	0.448																																						ENST00000393630.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57						c.(3535-3537)cCt>cAt		MON2 homolog (S. cerevisiae)							84.0	81.0	82.0					12																	62954394		2203	4300	6503	SO:0001583	missense	23041				Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	g.chr12:62954394C>A		CCDS31849.1, CCDS61175.1, CCDS61177.1, CCDS61178.1	12q14.1	2014-08-12	2006-04-04		ENSG00000061987	ENSG00000061987			29177	protein-coding gene	gene with protein product			"""MON2 homolog (yeast)"""			16301316, 24285343	Standard	NM_015026		Approved	KIAA1040	uc001sre.3	Q7Z3U7	OTTHUMG00000169992	ENST00000393632.2:c.3533C>A	12.37:g.62954394C>A	ENSP00000377252:p.Pro1178His					MON2_ENST00000546600.1_Missense_Mutation_p.P1178H|MON2_ENST00000280379.6_Missense_Mutation_p.P1179H|MON2_ENST00000393632.2_Missense_Mutation_p.P1178H|MON2_ENST00000552738.1_Missense_Mutation_p.P1155H|MON2_ENST00000393629.2_Missense_Mutation_p.P1178H	p.P1179H	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)	27	3927	+			1179					A5D8U7|A7E2Y0|B9EGP5|F8VWA6|F8W1Z6|Q86TA2|Q8N3I5|Q8NAI0|Q8NHE2|Q9UPW1	Missense_Mutation	SNP	ENST00000393632.2	37	c.3536C>A	CCDS31849.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682272	0.47991	.	.	ENSG00000061987	ENST00000393632;ENST00000393630;ENST00000280379;ENST00000546600;ENST00000552738;ENST00000393629	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.29	5.29	0.74685	.	0.058718	0.64402	D	0.000001	T	0.76162	0.3949	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.67145	0.969;0.982;0.962;0.996;0.99	P;P;P;P;P	0.58928	0.709;0.848;0.788;0.842;0.848	T	0.74284	-0.3715	9	.	.	.	-15.1323	19.2945	0.94117	0.0:1.0:0.0:0.0	.	1178;1155;1178;53;1178	B9EGP5;F8VWA6;F8W1Z6;Q7Z3U7-3;Q7Z3U7-4	.;.;.;.;.	H	1178;1179;1179;1178;1155;1178	ENSP00000377252:P1178H;ENSP00000377250:P1179H;ENSP00000280379:P1179H;ENSP00000447407:P1178H;ENSP00000449215:P1155H;ENSP00000377249:P1178H	.	P	+	2	0	MON2	61240661	1.000000	0.71417	0.987000	0.45799	0.008000	0.06430	7.776000	0.85560	2.643000	0.89663	0.650000	0.86243	CCT		0.448	MON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406767.3	NM_015026		11	71	1	0	0.000673444	0.361761	0.00074487	11	71				
TXN2	25828	broad.mit.edu	37	22	36876729	36876729	+	Missense_Mutation	SNP	T	T	C	rs146269725	byFrequency	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:36876729T>C	ENST00000216185.2	-	2	622	c.156A>G	c.(154-156)atA>atG	p.I52M	TXN2_ENST00000416967.1_De_novo_Start_InFrame|TXN2_ENST00000403313.1_Missense_Mutation_p.I52M|TXN2_ENST00000487725.1_5'UTR			Q99757	THIOM_HUMAN	thioredoxin 2	52					cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						TCGTGGTGTATATTGTCCGGG	0.547													t|||	6	0.00119808	0.0	0.0	5008	,	,		22397	0.006		0.0	False		,,,				2504	0.0					ENST00000216185.2																			0				breast(1)|lung(1)|prostate(1)	3						c.(154-156)atA>atG		thioredoxin 2							165.0	139.0	148.0					22																	36876729		2203	4300	6503	SO:0001583	missense	25828				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	g.chr22:36876729T>C	U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.156A>G	22.37:g.36876729T>C	ENSP00000216185:p.Ile52Met					TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.I52M|TXN2_ENST00000416967.1_De_novo_Start_InFrame	p.I52M			Q99757	THIOM_HUMAN			2	622	-			52					Q5JZA0|Q6FH60|Q9UH29	Missense_Mutation	SNP	ENST00000216185.2	37	c.156A>G	CCDS13928.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	t	7.424	0.637372	0.14386	.	.	ENSG00000100348	ENST00000216185;ENST00000403313	T;T	0.12672	2.66;2.66	5.59	-7.08	0.01558	Thioredoxin-like fold (1);	0.839909	0.10725	N	0.641315	T	0.04952	0.0133	L	0.40543	1.245	0.09310	N	1	B	0.16396	0.017	B	0.18263	0.021	T	0.38478	-0.9659	10	0.48119	T	0.1	-15.4276	0.6204	0.00777	0.261:0.192:0.2995:0.2475	.	52	Q99757	THIOM_HUMAN	M	52	ENSP00000216185:I52M;ENSP00000385393:I52M	ENSP00000216185:I52M	I	-	3	3	TXN2	35206675	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	-3.254000	0.00538	-0.863000	0.04084	0.429000	0.28392	ATA		0.547	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319016.1	NM_012473		24	89	0	0	0	0.639603	0	24	89				
PTPRN	5798	broad.mit.edu	37	2	220162103	220162103	+	Missense_Mutation	SNP	C	C	T	rs371902141		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:220162103C>T	ENST00000295718.2	-	14	2180	c.1940G>A	c.(1939-1941)gGt>gAt	p.G647D	PTPRN_ENST00000423636.2_Missense_Mutation_p.G557D|PTPRN_ENST00000409251.3_Missense_Mutation_p.G618D|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000497977.1_5'Flank	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	647					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTCCGGTGGACCCTCTGCCCG	0.632																																						ENST00000295718.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1939-1941)gGt>gAt		protein tyrosine phosphatase, receptor type, N							64.0	66.0	65.0					2																	220162103		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220162103C>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1940G>A	2.37:g.220162103C>T	ENSP00000295718:p.Gly647Asp					PTPRN_ENST00000409251.3_Missense_Mutation_p.G618D|PTPRN_ENST00000423636.2_Missense_Mutation_p.G557D	p.G647D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	14	2180	-		Renal(207;0.0474)	647					B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1940G>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.152554	0.38021	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03772	3.93;3.81;3.81	4.22	3.33	0.38152	.	0.242913	0.32120	N	0.006542	T	0.11793	0.0287	L	0.53249	1.67	0.39915	D	0.974083	D;D	0.76494	0.999;0.998	P;P	0.60789	0.879;0.835	T	0.03112	-1.1071	10	0.46703	T	0.11	.	8.2494	0.31708	0.1538:0.4493:0.3969:0.0	.	618;647	Q6NSL1;Q16849	.;PTPRN_HUMAN	D	618;647;618;557	ENSP00000386638:G618D;ENSP00000295718:G647D;ENSP00000444244:G557D	ENSP00000295718:G647D	G	-	2	0	PTPRN	219870347	0.346000	0.24844	0.916000	0.36221	0.268000	0.26511	0.839000	0.27586	0.968000	0.38212	-0.305000	0.09177	GGT		0.632	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			12	71	0	0	0	0.387290	0	12	71				
HMGN4	10473	broad.mit.edu	37	6	26545528	26545528	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr6:26545528C>T	ENST00000377575.2	+	2	271	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	32						chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)			lung(2)|skin(1)	3						GTCTGCTAAACCAGCTCCTCC	0.502																																						ENST00000377575.2																			0				lung(2)|skin(1)	3						c.(94-96)Cca>Tca		high mobility group nucleosomal binding domain 4							87.0	78.0	81.0					6																	26545528		2203	4300	6503	SO:0001583	missense	10473					chromatin|nucleus	DNA binding	g.chr6:26545528C>T	U90549	CCDS4615.1	6p21.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000182952	ENSG00000182952		"""High-mobility group / Canonical"""	4989	protein-coding gene	gene with protein product			"""high-mobility group (nonhistone chromosomal) protein 17-like 3"""	HMG17L3		9149941, 11410162	Standard	NM_006353		Approved	NHC	uc003nig.3	O00479	OTTHUMG00000014458	ENST00000377575.2:c.94C>T	6.37:g.26545528C>T	ENSP00000366798:p.Pro32Ser						p.P32S	NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN			2	271	+			32					B2R4I6|Q53XL9	Missense_Mutation	SNP	ENST00000377575.2	37	c.94C>T	CCDS4615.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630200	0.46944	.	.	ENSG00000182952	ENST00000328219;ENST00000377575	.	.	.	3.15	3.15	0.36227	.	0.000000	0.64402	D	0.000007	T	0.60830	0.2299	.	.	.	0.42390	D	0.992526	P	0.50443	0.935	P	0.56434	0.798	T	0.66732	-0.5849	8	0.66056	D	0.02	-7.8279	12.5424	0.56179	0.0:1.0:0.0:0.0	.	32	O00479	HMGN4_HUMAN	S	32	.	ENSP00000327691:P32S	P	+	1	0	HMGN4	26653507	0.999000	0.42202	0.160000	0.22671	0.464000	0.32679	4.348000	0.59379	2.046000	0.60703	0.561000	0.74099	CCA		0.502	HMGN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040123.2			15	48	0	0	0	0.457914	0	15	48				
NRP2	8828	broad.mit.edu	37	2	206628571	206628571	+	Missense_Mutation	SNP	A	A	G	rs367890084		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:206628571A>G	ENST00000357785.5	+	13	2249	c.2218A>G	c.(2218-2220)Agc>Ggc	p.S740G	NRP2_ENST00000272849.3_Missense_Mutation_p.S740G|NRP2_ENST00000540178.1_Missense_Mutation_p.S740G|NRP2_ENST00000540841.1_Missense_Mutation_p.S740G|AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000360409.3_Missense_Mutation_p.S740G|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000412873.2_Missense_Mutation_p.S740G|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000357118.4_Missense_Mutation_p.S740G|AC007362.3_ENST00000423425.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAGCCAGGAGAGCAAGTTGCT	0.677											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2218-2220)Agc>Ggc		neuropilin 2		A	GLY/SER,GLY/SER,GLY/SER,GLY/SER,GLY/SER	0,4406		0,0,2203	50.0	53.0	52.0		2218,2218,2218,2218,2218	6.1	1.0	2		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NRP2	NM_003872.2,NM_018534.3,NM_201266.1,NM_201267.1,NM_201279.1	56,56,56,56,56	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	740/927,740/907,740/932,740/902,740/910	206628571	1,13005	2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206628571A>G	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2218A>G	2.37:g.206628571A>G	ENSP00000350432:p.Ser740Gly		OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	NRP2_ENST00000412873.2_Missense_Mutation_p.S740G|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000272849.3_Missense_Mutation_p.S740G|NRP2_ENST00000540178.1_Missense_Mutation_p.S740G|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000540841.1_Missense_Mutation_p.S740G|NRP2_ENST00000357785.5_Missense_Mutation_p.S740G|NRP2_ENST00000357118.4_Missense_Mutation_p.S740G|AC007362.3_ENST00000598710.1_RNA	p.S740G	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			13	3009	+			740			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2218A>G	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.246377	0.59103	0.0	1.16E-4	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.168783	0.64402	D	0.000003	T	0.02083	0.0065	N	0.11724	0.165	0.80722	D	1	B;B;B;B;B	0.31125	0.06;0.2;0.309;0.035;0.035	B;B;B;B;B	0.31946	0.048;0.117;0.138;0.048;0.048	T	0.62784	-0.6781	10	0.62326	D	0.03	-32.5521	13.2679	0.60144	0.8595:0.1405:0.0:0.0	.	740;740;740;740;740	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	G	740	ENSP00000353582:S740G;ENSP00000439658:S740G;ENSP00000439261:S740G;ENSP00000349632:S740G;ENSP00000350432:S740G;ENSP00000407626:S740G;ENSP00000272849:S740G	ENSP00000272849:S740G	S	+	1	0	NRP2	206336816	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.900000	0.56295	2.326000	0.78906	0.533000	0.62120	AGC		0.677	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			10	69	0	0	0	0.387290	0	10	69				
ANKH	56172	broad.mit.edu	37	5	14716935	14716935	+	Missense_Mutation	SNP	C	C	T	rs199664007		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:14716935C>T	ENST00000284268.6	-	9	1351	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	ANKH_ENST00000535119.1_Missense_Mutation_p.V143M	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	341					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAAAACATCACGAAACAGAGC	0.453																																						ENST00000284268.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1021-1023)Gtg>Atg		ANKH inorganic pyrophosphate transport regulator		C	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	68.0	64.0	65.0		1021	5.7	1.0	5		65	8,8592	6.4+/-24.3	0,8,4292	yes	missense	ANKH	NM_054027.4	21	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	benign	341/493	14716935	9,12997	2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14716935C>T	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1021G>A	5.37:g.14716935C>T	ENSP00000284268:p.Val341Met					ANKH_ENST00000535119.1_Missense_Mutation_p.V143M	p.V341M	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			9	1351	-			341					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.1021G>A	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.243546	0.58995	2.27E-4	9.3E-4	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.95412	-3.7;-3.7	5.7	5.7	0.88788	.	0.118170	0.64402	D	0.000012	D	0.92951	0.7757	N	0.12182	0.205	0.58432	D	0.999999	P	0.51240	0.943	P	0.50537	0.643	D	0.93217	0.6605	10	0.41790	T	0.15	-41.2308	18.8353	0.92159	0.0:1.0:0.0:0.0	.	341	Q9HCJ1	ANKH_HUMAN	M	143;341	ENSP00000442524:V143M;ENSP00000284268:V341M	ENSP00000284268:V341M	V	-	1	0	ANKH	14769935	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.078000	0.57606	2.688000	0.91661	0.655000	0.94253	GTG		0.453	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		4	33	0	0	0	0.248553	0	4	33				
TPTE2	93492	broad.mit.edu	37	13	20000607	20000607	+	Silent	SNP	A	A	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:20000607A>G	ENST00000400230.2	-	18	1397	c.1353T>C	c.(1351-1353)ggT>ggC	p.G451G	TPTE2_ENST00000400103.2_Silent_p.G340G|TPTE2_ENST00000457266.2_Silent_p.G340G|TPTE2_ENST00000382977.4_Silent_p.G451G|TPTE2_ENST00000255310.6_Silent_p.G374G|TPTE2_ENST00000382975.4_Silent_p.G411G|TPTE2_ENST00000382978.1_Silent_p.G411G|TPTE2_ENST00000390680.2_Silent_p.G374G			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	451	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAGAGGTGGACCGTCATATA	0.338																																						ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1351-1353)ggT>ggC		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2							119.0	117.0	118.0					13																	20000607		2203	4300	6503	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20000607A>G	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1353T>C	13.37:g.20000607A>G						TPTE2_ENST00000382978.1_Silent_p.G411G|TPTE2_ENST00000382975.4_Silent_p.G411G|TPTE2_ENST00000255310.6_Silent_p.G374G|TPTE2_ENST00000457266.2_Silent_p.G340G|TPTE2_ENST00000400103.2_Silent_p.G340G|TPTE2_ENST00000390680.2_Silent_p.G374G|TPTE2_ENST00000382977.4_Silent_p.G451G	p.G451G			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	18	1397	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	451			C2 tensin-type.		A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.1353T>C	CCDS45014.1																																																																																				0.338	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		24	88	0	0	0	0.667858	0	24	88				
ZNF623	9831	broad.mit.edu	37	8	144733541	144733541	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:144733541C>A	ENST00000501748.2	+	1	1588	c.1499C>A	c.(1498-1500)aCa>aAa	p.T500K	ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AACTCAACTACAAACGTTAAA	0.413																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(1498-1500)aCa>aAa		zinc finger protein 623							77.0	77.0	77.0					8																	144733541		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733541C>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1499C>A	8.37:g.144733541C>A	ENSP00000445979:p.Thr500Lys					ZNF623_ENST00000458270.2_Missense_Mutation_p.T460K|ZNF623_ENST00000526926.1_Missense_Mutation_p.T460K	p.T500K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1588	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		500					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1499C>A	CCDS34957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.25|11.25	1.581994|1.581994	0.28180|0.28180	.|.	.|.	ENSG00000183309|ENSG00000183309	ENST00000328466|ENST00000526926;ENST00000458270;ENST00000532796;ENST00000501748	.|T;T;T	.|0.60424	.|0.19;0.19;0.19	4.3|4.3	3.4|3.4	0.38934|0.38934	.|Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.35038|0.35038	0.0918|0.0918	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B	.|0.23650	.|0.089	.|B	.|0.14023	.|0.01	T|T	0.09684|0.09684	-1.0663|-1.0663	6|8	0.72032|.	D|.	0.01|.	-1.5887|-1.5887	7.2014|7.2014	0.25883|0.25883	0.0:0.7908:0.0:0.2092|0.0:0.7908:0.0:0.2092	.|.	.|500	.|O75123	.|ZN623_HUMAN	K|K	460|460;460;500;500	.|ENSP00000435232:T460K;ENSP00000411139:T460K;ENSP00000445979:T500K	ENSP00000330358:Q460K|.	Q|T	+|+	1|2	0|0	ZNF623|ZNF623	144804684|144804684	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.029000|0.029000	0.11900|0.11900	1.225000|1.225000	0.32551|0.32551	2.115000|2.115000	0.64714|0.64714	0.491000|0.491000	0.48974|0.48974	CAA|ACA		0.413	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		4	146	1	0	0.150653	0.150653	0.155996	4	146				
NXPE2	120406	broad.mit.edu	37	11	114569215	114569215	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:114569215T>A	ENST00000389586.4	+	3	771	c.581T>A	c.(580-582)aTc>aAc	p.I194N	NXPE2_ENST00000375475.5_Missense_Mutation_p.I194N	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	194						integral component of membrane (GO:0016021)											CTGCTGCTCATCCACCCCAGT	0.542																																						ENST00000375475.5																			0											c.(580-582)aTc>aAc		neurexophilin and PC-esterase domain family, member 2							90.0	99.0	96.0					11																	114569215		692	1591	2283	SO:0001583	missense	120406							g.chr11:114569215T>A	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.581T>A	11.37:g.114569215T>A	ENSP00000374237:p.Ile194Asn					NXPE2_ENST00000389586.4_Missense_Mutation_p.I194N	p.I194N							3	679	+								Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	c.581T>A	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967691	0.74131	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.20598	2.56;2.06	4.66	3.52	0.40303	.	0.376195	0.24576	N	0.037355	T	0.45316	0.1336	M	0.88031	2.925	0.29960	N	0.819516	D	0.57257	0.979	P	0.60609	0.877	T	0.51803	-0.8659	10	0.87932	D	0	.	8.4549	0.32893	0.0:0.0947:0.0:0.9053	.	194	Q96DL1	FA55B_HUMAN	N	194	ENSP00000374237:I194N;ENSP00000364624:I194N	ENSP00000364624:I194N	I	+	2	0	FAM55B	114074425	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	4.753000	0.62183	0.640000	0.30582	0.482000	0.46254	ATC		0.542	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		4	27	0	0	0	0.150653	0	4	27				
PTPRF	5792	broad.mit.edu	37	1	44075146	44075146	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:44075146G>A	ENST00000359947.4	+	22	4290	c.3950G>A	c.(3949-3951)cGg>cAg	p.R1317Q	PTPRF_ENST00000372414.3_Missense_Mutation_p.R1317Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1308Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R665Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1308Q|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1317					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGGAGATGCGGAGGCTCAAC	0.602																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3949-3951)cGg>cAg		protein tyrosine phosphatase, receptor type, F							74.0	62.0	66.0					1																	44075146		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44075146G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3950G>A	1.37:g.44075146G>A	ENSP00000353030:p.Arg1317Gln					PTPRF_ENST00000372414.3_Missense_Mutation_p.R1317Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R665Q|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1308Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1308Q	p.R1317Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			22	4290	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1317					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3950G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.024066|4.024066	0.75390|0.75390	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.57595	.|0.39;0.41;0.39;0.41;2.36;4.06	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|.	.|.	.|.	.|.	T|T	0.71846|0.71846	0.3388|0.3388	M|M	0.74467|0.74467	2.265|2.265	0.58432|0.58432	D|D	0.999999|0.999999	.|D;B;P;P;D	.|0.76494	.|0.999;0.292;0.91;0.938;0.959	.|D;B;P;B;B	.|0.67231	.|0.95;0.069;0.457;0.386;0.319	T|T	0.74225|0.74225	-0.3734|-0.3734	5|9	.|0.49607	.|T	.|0.09	.|.	18.2501|18.2501	0.89998|0.89998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|962;665;883;1308;1317	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	R|Q	963|1317;1308;1317;1308;665;378	.|ENSP00000353030:R1317Q;ENSP00000398822:R1308Q;ENSP00000361491:R1317Q;ENSP00000361490:R1308Q;ENSP00000387885:R665Q;ENSP00000361484:R378Q	.|ENSP00000353030:R1317Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43847733|43847733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.889000|7.889000	0.87307|0.87307	2.380000|2.380000	0.81148|0.81148	0.462000|0.462000	0.41574|0.41574	GGA|CGG		0.602	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			3	42	0	0	0	0.150653	0	3	42				
GSAP	54103	broad.mit.edu	37	7	76984548	76984548	+	Silent	SNP	C	C	A	rs536373652	byFrequency	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:76984548C>A	ENST00000257626.7	-	16	1398	c.1320G>T	c.(1318-1320)gcG>gcT	p.A440A		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	440					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										CCAGGAACTGCGCACCTTGAC	0.473																																						ENST00000257626.7																			0											c.(1318-1320)gcG>gcT		gamma-secretase activating protein							60.0	58.0	59.0					7																	76984548		2203	4300	6503	SO:0001819	synonymous_variant	54103							g.chr7:76984548C>A		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1320G>T	7.37:g.76984548C>A							p.A440A	NM_017439.3	NP_059135.2					16	1398	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.1320G>T	CCDS34672.2																																																																																				0.473	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		13	75	1	0	5.50884e-06	0.411799	6.28352e-06	13	75				
PES1	23481	broad.mit.edu	37	22	30976074	30976074	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr22:30976074C>T	ENST00000405677.1	-	13	1661	c.718G>A	c.(718-720)Gac>Aac	p.D240N	PES1_ENST00000402284.3_Missense_Mutation_p.D362N|PES1_ENST00000335214.6_Missense_Mutation_p.D374N|PES1_ENST00000402281.1_Missense_Mutation_p.D240N|PES1_ENST00000354694.7_Missense_Mutation_p.D379N	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCAGGCCGGTCGACAATCTGA	0.572																																						ENST00000402281.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(718-720)Gac>Aac		pescadillo ribosomal biogenesis factor 1							147.0	141.0	143.0					22																	30976074		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30976074C>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.718G>A	22.37:g.30976074C>T	ENSP00000385654:p.Asp240Asn					PES1_ENST00000405677.1_Missense_Mutation_p.D240N|PES1_ENST00000335214.6_Missense_Mutation_p.D374N|PES1_ENST00000402284.3_Missense_Mutation_p.D362N|PES1_ENST00000354694.6_Missense_Mutation_p.D379N	p.D240N			O00541	PESC_HUMAN			13	1709	-			379			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.718G>A		.	.	.	.	.	.	.	.	.	.	C	36	5.803052	0.96960	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.28	5.28	0.74379	BRCT (4);	0.000000	0.85682	D	0.000000	T	0.71187	0.3310	M	0.93898	3.47	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;0.998;1.0	T	0.79995	-0.1568	10	0.87932	D	0	-42.0393	18.5307	0.90990	0.0:1.0:0.0:0.0	.	379;362;374;379	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	N	379;240;240;362;374	ENSP00000346725:D379N;ENSP00000384366:D240N;ENSP00000385654:D240N;ENSP00000384252:D362N;ENSP00000334612:D374N	ENSP00000334612:D374N	D	-	1	0	PES1	29306074	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	7.656000	0.83736	2.467000	0.83353	0.655000	0.94253	GAC		0.572	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303		31	129	0	0	0	0.819951	0	31	129				
ADAMTS2	9509	broad.mit.edu	37	5	178580593	178580593	+	Missense_Mutation	SNP	C	C	T	rs546681307		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr5:178580593C>T	ENST00000251582.7	-	9	1515	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A472T	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	472					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTCGTGGGCGAAGGGGTCA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17082	0.0		0.0	False		,,,				2504	0.0					ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(1414-1416)Gcc>Acc		ADAM metallopeptidase with thrombospondin type 1 motif, 2							50.0	44.0	46.0					5																	178580593		2202	4299	6501	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178580593C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1414G>A	5.37:g.178580593C>T	ENSP00000251582:p.Ala472Thr					ADAMTS2_ENST00000274609.5_Missense_Mutation_p.A472T	p.A472T	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	9	1515	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	472						Missense_Mutation	SNP	ENST00000251582.7	37	c.1414G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109740	0.37242	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.63096	-0.02;-0.02	4.58	3.69	0.42338	Metallopeptidase, catalytic domain (1);	0.421858	0.21103	N	0.080135	T	0.46328	0.1387	N	0.22421	0.69	0.37059	D	0.897979	B;B	0.15473	0.013;0.001	B;B	0.09377	0.004;0.002	T	0.45338	-0.9268	10	0.37606	T	0.19	.	11.2567	0.49058	0.0:0.9072:0.0:0.0928	.	472;472	O95450-2;O95450	.;ATS2_HUMAN	T	472	ENSP00000251582:A472T;ENSP00000274609:A472T	ENSP00000251582:A472T	A	-	1	0	ADAMTS2	178513199	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	1.544000	0.36158	1.005000	0.39183	0.462000	0.41574	GCC		0.657	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		5	20	0	0	0	0.184627	0	5	20				
ZNF770	54989	broad.mit.edu	37	15	35274909	35274909	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr15:35274909C>T	ENST00000356321.4	-	3	1071	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	243					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		GCCCGAAAAGCCTTATTCCTA	0.363																																						ENST00000356321.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29						c.(727-729)Gct>Act		zinc finger protein 770							44.0	45.0	45.0					15																	35274909		2201	4297	6498	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35274909C>T	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.727G>A	15.37:g.35274909C>T	ENSP00000348673:p.Ala243Thr						p.A243T	NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	1071	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	243					Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.727G>A	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.717132	0.00093	.	.	ENSG00000198146	ENST00000356321	T	0.08984	3.03	5.17	3.96	0.45880	Zinc finger, C2H2 (1);	0.943557	0.08815	N	0.889585	T	0.03305	0.0096	N	0.01874	-0.695	0.25376	N	0.988659	B	0.02656	0.0	B	0.01281	0.0	T	0.37526	-0.9702	10	0.59425	D	0.04	-0.2675	2.567	0.04785	0.1408:0.0908:0.1461:0.6223	.	243	Q6IQ21	ZN770_HUMAN	T	243	ENSP00000348673:A243T	ENSP00000348673:A243T	A	-	1	0	ZNF770	33062201	0.844000	0.29557	0.998000	0.56505	0.065000	0.16274	0.379000	0.20585	0.888000	0.36160	-0.345000	0.07892	GCT		0.363	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		20	51	0	0	0	0.624587	0	20	51				
CYP51A1	1595	broad.mit.edu	37	7	91756928	91756928	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:91756928C>T	ENST00000003100.8	-	4	651	c.486G>A	c.(484-486)aaG>aaA	p.K162K	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Silent_p.K57K	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	156					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	TTAACATTTTCTTCTGCTCCA	0.303																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(484-486)aaG>aaA		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						45.0	43.0	44.0					7																	91756928		2202	4296	6498	SO:0001819	synonymous_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91756928C>T	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.486G>A	7.37:g.91756928C>T						CYP51A1_ENST00000450723.1_Silent_p.K57K|LRRD1_ENST00000422722.1_5'UTR	p.K162K	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		4	651	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		156					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Silent	SNP	ENST00000003100.8	37	c.486G>A	CCDS5623.1																																																																																				0.303	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			4	53	0	0	0	0.150653	0	4	53				
TTN	7273	broad.mit.edu	37	2	179435645	179435645	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr2:179435645C>G	ENST00000591111.1	-	276	70515	c.70291G>C	c.(70291-70293)Gtt>Ctt	p.V23431L	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V16199L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22504L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V25072L|TTN_ENST00000460472.2_Missense_Mutation_p.V16007L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16132L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23431	Fibronectin type-III 70. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATCTTCAACTAGGCCAGTT	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(75214-75216)Gtt>Ctt		titin							141.0	134.0	136.0					2																	179435645		1855	4110	5965	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179435645C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.70291G>C	2.37:g.179435645C>G	ENSP00000465570:p.Val23431Leu					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16007L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V23431L|TTN_ENST00000359218.5_Missense_Mutation_p.V16132L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22504L|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V16199L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA	p.V25072L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	75438	-			23431			Fibronectin type-III 82.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.75214G>C		.	.	.	.	.	.	.	.	.	.	C	10.16	1.274544	0.23307	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.5	0.556	0.17253	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34221	0.0890	N	0.20304	0.555	0.22389	N	0.999141	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.25882	-1.0119	9	0.87932	D	0	.	6.4966	0.22146	0.0:0.6077:0.1212:0.271	.	16007;16132;16199;23431	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	22504;16007;16199;16132;16005	ENSP00000343764:V22504L;ENSP00000434586:V16007L;ENSP00000340554:V16199L;ENSP00000352154:V16132L	ENSP00000340554:V16199L	V	-	1	0	TTN	179143891	0.000000	0.05858	0.876000	0.34364	0.975000	0.68041	0.452000	0.21795	-0.122000	0.11766	-0.252000	0.11476	GTT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		37	158	0	0	0	0.779181	0	37	158				
MYH4	4622	broad.mit.edu	37	17	10351237	10351237	+	Silent	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:10351237C>T	ENST00000255381.2	-	34	4973	c.4863G>A	c.(4861-4863)aaG>aaA	p.K1621K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1621					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCCTCCATCTTCTTCTTGA	0.458																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4861-4863)aaG>aaA		myosin, heavy chain 4, skeletal muscle							271.0	236.0	247.0					17																	10351237		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10351237C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4863G>A	17.37:g.10351237C>T						CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.K1621K	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			34	4973	-			1621						Silent	SNP	ENST00000255381.2	37	c.4863G>A	CCDS11154.1																																																																																				0.458	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		9	278	0	0	0	0.361761	0	9	278				
MACF1	23499	broad.mit.edu	37	1	39905138	39905138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:39905138C>T	ENST00000372915.3	+	71	18197	c.18110C>T	c.(18109-18111)cCt>cTt	p.P6037L	MACF1_ENST00000361689.2_Missense_Mutation_p.P4079L|MACF1_ENST00000567887.1_Missense_Mutation_p.P6175L|MACF1_ENST00000539005.1_Missense_Mutation_p.P3949L|MACF1_ENST00000564288.1_Missense_Mutation_p.P6138L|MACF1_ENST00000289893.4_Missense_Mutation_p.P4581L|MACF1_ENST00000317713.7_Missense_Mutation_p.P4079L|MACF1_ENST00000545844.1_Missense_Mutation_p.P4079L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6037					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCATTGATCCTTCCATCATC	0.433																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(18412-18414)cCt>cTt		microtubule-actin crosslinking factor 1							78.0	73.0	75.0					1																	39905138		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39905138C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18110C>T	1.37:g.39905138C>T	ENSP00000362006:p.Pro6037Leu					MACF1_ENST00000539005.1_Missense_Mutation_p.P3949L|MACF1_ENST00000289893.4_Missense_Mutation_p.P4581L|MACF1_ENST00000545844.1_Missense_Mutation_p.P4079L|MACF1_ENST00000317713.7_Missense_Mutation_p.P4079L|MACF1_ENST00000372915.3_Missense_Mutation_p.P6037L|MACF1_ENST00000361689.2_Missense_Mutation_p.P4079L|MACF1_ENST00000567887.1_Missense_Mutation_p.P6175L	p.P6138L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		72	19190	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6146					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.18413C>T		.	.	.	.	.	.	.	.	.	.	C	34	5.403041	0.96030	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000007	T	0.64249	0.2581	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63427	-0.6640	10	0.49607	T	0.09	.	19.9826	0.97334	0.0:1.0:0.0:0.0	.	6037;4079	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	L	4079;6037;4079;4079;3949;4581	ENSP00000439537:P4079L;ENSP00000362006:P6037L;ENSP00000354573:P4079L;ENSP00000313438:P4079L;ENSP00000444364:P3949L;ENSP00000289893:P4581L	ENSP00000289893:P4581L	P	+	2	0	MACF1	39677725	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.734000	0.93682	0.650000	0.86243	CCT		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		9	62	0	0	0	0.335167	0	9	62				
MARS	4141	broad.mit.edu	37	12	57909809	57909809	+	Intron	SNP	A	A	C	rs201065783		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:57909809A>C	ENST00000262027.5	+	19	2597				RN7SL312P_ENST00000582079.1_RNA|MARS_ENST00000315473.5_Missense_Mutation_p.N599T	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase						gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCGCTCCACAACAGCCACAGC	0.488																																						ENST00000315473.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(1795-1797)aAc>aCc		methionyl-tRNA synthetase	L-Methionine(DB00134)																																			SO:0001627	intron_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57909809A>C	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.2463+35A>C	12.37:g.57909809A>C						MARS_ENST00000262027.5_Intron	p.N599T			P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		18	2447	+			0					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	c.1796A>C	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	A	4.889	0.165312	0.09339	.	.	ENSG00000166986	ENST00000315473	T	0.41758	0.99	4.58	0.844	0.18943	.	.	.	.	.	T	0.22003	0.0530	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.22277	-1.0221	7	.	.	.	.	2.7801	0.05358	0.4958:0.0:0.1825:0.3217	.	599	A6NC17	.	T	599	ENSP00000314653:N599T	.	N	+	2	0	MARS	56196076	0.000000	0.05858	0.007000	0.13788	0.009000	0.06853	-2.100000	0.01345	0.048000	0.15891	-1.590000	0.00845	AAC		0.488	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990		8	24	0	0	0	0.608945	0	8	24				
TCHH	7062	broad.mit.edu	37	1	152081483	152081495	+	Frame_Shift_Del	DEL	GCTCCTGGCAGCG	GCTCCTGGCAGCG	-	rs367869823		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr1:152081483_152081495delGCTCCTGGCAGCG	ENST00000368804.1	-	2	4197_4209	c.4198_4210delCGCTGCCAGGAGC	c.(4198-4212)cgctgccaggagcgcfs	p.RCQER1400fs		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1400	23 X 26 AA approximate tandem repeats.		R -> P (found in a renal cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:21248752}.		keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.R1400P(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTGCTCGCGCTCCTGGCAGCGCAGCTGCTGT	0.577																																						ENST00000368804.1																			1	Substitution - Missense(1)	p.R1400P(1)	kidney(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(4198-4212)gcfs		trichohyalin																																				SO:0001589	frameshift_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081483_152081495delGCTCCTGGCAGCG	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4198_4210delCGCTGCCAGGAGC	1.37:g.152081483_152081495delGCTCCTGGCAGCG	ENSP00000357794:p.Arg1400fs						p.RCQER1400fs	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4197_4209	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1400		R -> P (found in a renal cell carcinoma sample; somatic mutation).	23 X 26 AA approximate tandem repeats.		Q5VUI3	Frame_Shift_Del	DEL	ENST00000368804.1	37	c.4198_4210delCGCTGCCAGGAGC	CCDS41396.1																																																																																				0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		17	95						17	95	---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs375350046|rs369823368|rs146316187		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr3:10088407_10088410delAGTA	ENST00000419585.1	+	15	1439	c.1278delAGTA	c.(1276-1278)tta>tt	p.L426fs	FANCD2_ENST00000287647.3_Splice_Site_p.L426fs|FANCD2_ENST00000383807.1_Splice_Site_p.L426fs|FANCD2_ENST00000383806.1_Splice_Site_p.L426fs			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3			yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""D, Mis, N, F"""	"""Fanconi anemia, complementation group D2"""			L		"""AML, leukemia"""			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.e15+1	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group D2																																				SO:0001630	splice_region_variant	2177	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10088407_10088410delAGTA	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.1278+1AGTA>-	3.37:g.10088407_10088410delAGTA						FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	15	1371	+			426					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Splice_Site	DEL	ENST00000419585.1	37	c.1278_splice	CCDS33696.1																																																																																				0.358	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		Frame_Shift_Del	8	48						8	48	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284885	38284886	+	RNA	INS	-	-	GGGT	rs138091320|rs377514954		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr7:38284885_38284886insGGGT	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										TATTTGTCAAGgtgtgtgtgtg	0.391																																						ENST00000436911.2																			0																																																			6967							g.chr7:38284885_38284886insGGGT	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284885_38284886insGGGT														0	330	-									RNA	INS	ENST00000436911.2	37																																																																																						0.391	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		28	22						28	22	---	---	---	---
LYN	4067	broad.mit.edu	37	8	56864535	56864538	+	Frame_Shift_Del	DEL	TCTG	TCTG	-			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr8:56864535_56864538delTCTG	ENST00000519728.1	+	7	794_797	c.498_501delTCTG	c.(496-501)tctctgfs	p.SL166fs	LYN_ENST00000520220.2_Frame_Shift_Del_p.SL145fs	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	166	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	GAAGCTTCTCTCTGTCTGTCAGAG	0.377																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(433-438)tcfs		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog																																				SO:0001589	frameshift_variant	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56864535_56864538delTCTG	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.498_501delTCTG	8.37:g.56864539_56864542delTCTG	ENSP00000428924:p.Ser166fs					LYN_ENST00000519728.1_Frame_Shift_Del_p.SL166fs	p.SL145fs	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		7	709_712	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	166			SH2.		A0AVQ5	Frame_Shift_Del	DEL	ENST00000519728.1	37	c.435_438delTCTG	CCDS6162.1																																																																																				0.377	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		22	212						22	212	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18636375	18636376	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr11:18636375_18636376insA	ENST00000336349.5	-	3	1680_1681	c.1445_1446insT	c.(1444-1446)ttgfs	p.L482fs	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	482	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCGGGGGGCCCAAGCCACTCAC	0.589																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1444-1446)tggfs		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)																																				SO:0001589	frameshift_variant	144108							g.chr11:18636375_18636376insA	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1446dupT	11.37:g.18636377_18636377dupA	ENSP00000337991:p.Leu482fs						p.W482fs	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	1680_1681	-			482			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Frame_Shift_Ins	INS	ENST00000336349.5	37	c.1445_1446insT	CCDS31441.1																																																																																				0.589	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		15	47						15	47	---	---	---	---
PRB1	5542	broad.mit.edu	37	12	11506229	11506231	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:11506229_11506231delTGC	ENST00000500254.2	-	4	444_446	c.407_409delGCA	c.(406-411)agcaag>aag	p.S136del	PRB1_ENST00000546254.1_In_Frame_Del_p.S136del|PRB1_ENST00000545626.1_In_Frame_Del_p.S116del	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	0	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTGGGACTTGCTGCCTCCTTG	0.596																																						ENST00000500254.2																			0				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(406-411)aag>a		proline-rich protein BstNI subfamily 1																																				SO:0001651	inframe_deletion	5542					extracellular region		g.chr12:11506229_11506231delTGC		CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.407_409delGCA	12.37:g.11506232_11506234delTGC	ENSP00000420826:p.Ser136del					PRB1_ENST00000545626.1_In_Frame_Del_p.SK116del|PRB1_ENST00000546254.1_In_Frame_Del_p.SK136del	p.SK136del	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.185)		4	444_446	-			330		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	In_Frame_Del	DEL	ENST00000500254.2	37	c.407_409delGCA	CCDS8642.1																																																																																				0.596	PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039		22	902						22	902	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		9	258						9	258	---	---	---	---
TPTE2P6	374491	broad.mit.edu	37	13	25169014	25169015	+	RNA	INS	-	-	TAG	rs372226268|rs375653834		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr13:25169014_25169015insTAG	ENST00000453498.1	+	0	1173				TPTE2P6_ENST00000440905.1_RNA																							actgactggaaagagagttagg	0.47																																						ENST00000453498.1																			0																																																			374491							g.chr13:25169014_25169015insTAG																													13.37:g.25169014_25169015insTAG														0	1173	+									RNA	INS	ENST00000453498.1	37																																																																																						0.470	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			7	19						7	19	---	---	---	---
TRAV24	28659	broad.mit.edu	37	14	22573824	22573825	+	RNA	INS	-	-	A	rs33991650|rs112427980|rs535957758|rs11408894	byFrequency	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr14:22573824_22573825insA	ENST00000390453.1	+	0	55									T cell receptor alpha variable 24																		TGACTCTTTTTTAAAAAAACAG	0.45													?|-|A|unsure	1610	0.321486	0.2284	0.3646	5008	,	,		20477	0.4028		0.3171	False		,,,				2504	0.3374					ENST00000390453.1																			0																	859,2725		120,619,1053						4.0	0.0		dbSNP_126	26	2428,5448		380,1668,1890	no	intergenic				500,2287,2943	A1A1,A1R,RR		30.8278,23.9676,28.6824				3287,8173						28659							g.chr14:22573824_22573825insA	AE000660		14q11.2	2012-02-07			ENSG00000211805	ENSG00000211805		"""T cell receptors / TRA locus"""	12121	other	T cell receptor gene						12594262, 8188290	Standard	NG_001332		Approved				OTTHUMG00000170652		14.37:g.22573824_22573825insA														0	55	+									RNA	INS	ENST00000390453.1	37																																																																																						0.450	TRAV24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409900.1	NG_001332		8	13						8	13	---	---	---	---
ADPGK	83440	broad.mit.edu	37	15	73044826	73044827	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr15:73044826_73044827insT	ENST00000311669.8	-	7	1439_1440	c.1346_1347insA	c.(1345-1347)aagfs	p.K449fs	ADPGK_ENST00000456471.2_Frame_Shift_Ins_p.K175fs	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	450	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						CTACTACTGGCTTGTTTGGGTT	0.49																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1345-1347)accfs		ADP-dependent glucokinase																																				SO:0001589	frameshift_variant	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73044826_73044827insT	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1347dupA	15.37:g.73044828_73044828dupT	ENSP00000312250:p.Lys449fs					ADPGK_ENST00000456471.2_Frame_Shift_Ins_p.T175fs	p.T449fs	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1439_1440	-			450			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Frame_Shift_Ins	INS	ENST00000311669.8	37	c.1346_1347insA	CCDS42057.1																																																																																				0.490	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		7	145						7	145	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84957462	84957472	+	RNA	DEL	GTGGCATCTGT	GTGGCATCTGT	-	rs578077920|rs200998054|rs540048240|rs376565740|rs145189308	byFrequency	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr15:84957462_84957472delGTGGCATCTGT	ENST00000558801.1	-	0	7257_7267									DNM1 pseudogene 51																		CACTTGTAGGGTGGCATCTGTGTGCACTGGC	0.578																																						ENST00000558801.1																			0																																																			114817							g.chr15:84957462_84957472delGTGGCATCTGT			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957462_84957472delGTGGCATCTGT														0	7257_7267	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.578	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			8	17						8	17	---	---	---	---
NUDT21	11051	broad.mit.edu	37	16	56485075	56485076	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:56485075_56485076insC	ENST00000300291.5	-	1	211_212	c.39_40insG	c.(37-42)tggcccfs	p.P14fs	OGFOD1_ENST00000566157.1_5'Flank|OGFOD1_ENST00000568397.1_5'Flank	NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	14	Necessary for RNA-binding.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACCCCCCGGGGCCAGCCGGTCT	0.658																																						ENST00000300291.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						c.(37-42)tgcccgfs		nudix (nucleoside diphosphate linked moiety X)-type motif 21																																				SO:0001589	frameshift_variant	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56485075_56485076insC	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.40dupG	16.37:g.56485077_56485077dupC	ENSP00000300291:p.Pro14fs						p.C13fs	NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN			1	211_212	-			13			Necessary for RNA-binding.		Q6IB85|Q6NE84	Frame_Shift_Ins	INS	ENST00000300291.5	37	c.39_40insG	CCDS10760.1																																																																																				0.658	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		44	119						44	119	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74394379	74394380	+	RNA	INS	-	-	A	rs142790741	byFrequency	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr16:74394379_74394380insA	ENST00000429810.2	-	0	435																											TAGTCATCCTTAAACAAAATTC	0.347													|||unknown(NO_COVERAGE)	1085	0.216653	0.2474	0.1888	5008	,	,		27432	0.1379		0.2604	False		,,,				2504	0.2311					ENST00000429810.2																			0																																																			0							g.chr16:74394379_74394380insA																													16.37:g.74394382_74394382dupA														0	435	-									RNA	INS	ENST00000429810.2	37																																																																																						0.347	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	3						3	3	---	---	---	---
NOS2P1	645740	broad.mit.edu	37	17	25988721	25988728	+	lincRNA	DEL	CCAGTCCT	CCAGTCCT	-	rs201021938|rs56024706|rs74398181|rs55953003		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:25988721_25988728delCCAGTCCT	ENST00000583179.1	-	0	1956_1963																											ACCAGGTGAGCCAGTCCTACCGATGGCA	0.481																																						ENST00000583179.1																			0																																																			645740							g.chr17:25988721_25988728delCCAGTCCT																													17.37:g.25988721_25988728delCCAGTCCT														0	1956_1963	-									RNA	DEL	ENST00000583179.1	37																																																																																						0.481	RP11-19P22.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000445273.1			3	3						3	3	---	---	---	---
KAT2A	2648	broad.mit.edu	37	17	40272817	40272818	+	Frame_Shift_Ins	INS	-	-	C	rs200262131		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:40272817_40272818insC	ENST00000225916.5	-	2	422_423	c.369_370insG	c.(367-372)tggaaafs	p.K124fs	CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.K158fs|HSPB9_ENST00000355067.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	124					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)	p.K124E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGGTTTTTCCAGCCATTAC	0.584																																						ENST00000225916.5																			1	Substitution - Missense(1)	p.K124E(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(367-372)tgaaaafs		K(lysine) acetyltransferase 2A																																				SO:0001589	frameshift_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40272817_40272818insC	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.370dupG	17.37:g.40272819_40272819dupC	ENSP00000225916:p.Lys124fs					CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.*157fs	p.*123fs	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			2	422_423	-			123					Q8N1A2|Q9UCW1	Frame_Shift_Ins	INS	ENST00000225916.5	37	c.369_370insG	CCDS11417.1																																																																																				0.584	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		27	66						27	66	---	---	---	---
LLGL2	3993	broad.mit.edu	37	17	73569700	73569701	+	Frame_Shift_Ins	INS	-	-	G	rs371719084|rs112393371|rs200046748	byFrequency	TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr17:73569700_73569701insG	ENST00000392550.3	+	21	2981_2982	c.2864_2865insG	c.(2863-2868)ccgagcfs	p.S956fs	LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.S956fs|LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.S956fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	956					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAAGGCCCCGAGCCGAGCCA	0.668																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2863-2865)cagfs		lethal giant larvae homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569700_73569701insG	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2865dupG	17.37:g.73569701_73569701dupG	ENSP00000376333:p.Ser956fs					LLGL2_ENST00000167462.5_Frame_Shift_Ins_p.Q955fs|LLGL2_ENST00000577200.1_Frame_Shift_Ins_p.Q955fs	p.Q955fs	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		21	2981_2982	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		955					Q14521|Q9BR62	Frame_Shift_Ins	INS	ENST00000392550.3	37	c.2864_2865insG	CCDS32733.1																																																																																				0.668	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		13	37						13	37	---	---	---	---
SYT5	6861	broad.mit.edu	37	19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-	rs575458911		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)cccfs	p.P29fs	SYT5_ENST00000590851.1_Intron|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(85-87)ccfs		synaptotagmin V							19.0	20.0	20.0					19																	55689729		2203	4299	6502	SO:0001589	frameshift_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689729delG	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.87delC	19.37:g.55689729delG	ENSP00000346265:p.Pro29fs					SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs	p.P29fs	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	3	456	-			29					B3KWJ8|B7Z300|Q86X72	Frame_Shift_Del	DEL	ENST00000354308.3	37	c.87delC	CCDS12919.1																																																																																				0.602	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		2	4						2	4	---	---	---	---
DNMT3B	1789	broad.mit.edu	37	20	31384616	31384617	+	Frame_Shift_Ins	INS	-	-	G	rs150851562		TCGA-CN-4736-01A-01D-1434-08	TCGA-CN-4736-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	788337f5-722c-45d6-8ca4-8037c489cb64	1723fc6d-c346-4dba-a04c-4dad42afee1e	g.chr20:31384616_31384617insG	ENST00000328111.2	+	13	1639_1640	c.1318_1319insG	c.(1318-1320)aggfs	p.R440fs	DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.R420fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.R378fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.R344fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.R420fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.R432fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.R420fs|DNMT3B_ENST00000375623.4_Splice_Site	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	440	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTTGTGGCAGGAAAAACCCC	0.559																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1318-1320)gaafs		DNA (cytosine-5-)-methyltransferase 3 beta																																				SO:0001589	frameshift_variant	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31384616_31384617insG		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1320dupG	20.37:g.31384618_31384618dupG	ENSP00000328547:p.Arg440fs					DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.E378fs|DNMT3B_ENST00000375623.4_Splice_Site|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.E344fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.E432fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.E420fs	p.E440fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			13	1639_1640	+			440			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Frame_Shift_Ins	INS	ENST00000328111.2	37	c.1318_1319insG	CCDS13205.1																																																																																				0.559	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		89	129						89	129	---	---	---	---
