#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
CYP4X1	260293	broad.mit.edu	37	1	47498961	47498961	+	Missense_Mutation	SNP	G	G	A	rs116257861	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:47498961G>A	ENST00000371901.3	+	4	663	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R137H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	138						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CAGCATCGTCGCCTACTAACT	0.428													G|||	7	0.00139776	0.0008	0.0014	5008	,	,		18849	0.0		0.0	False		,,,				2504	0.0051					uc001cqt.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(412-414)cGc>cAc		Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.		G	HIS/ARG	0,4406		0,0,2203	125.0	107.0	113.0		413	-1.5	0.0	1	dbSNP_132	113	4,8596	3.7+/-12.6	0,4,4296	yes	missense	CYP4X1	NM_178033.1	29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging	138/510	47498961	4,13002	2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47498961G>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.413G>A	1.37:g.47498961G>A	ENSP00000360968:p.Arg138His					CYP4X1_uc001cqr.3_Missense_Mutation_p.R137H|CYP4X1_uc001cqs.3_Missense_Mutation_p.R73H	p.R138H	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN			3	663	+			138					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.413G>A	CCDS544.1	3	0.0013736263736263737	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	13.85	2.359043	0.41801	0.0	4.65E-4	ENSG00000186377	ENST00000538609;ENST00000371901	D;T	0.81739	-1.53;-0.62	5.91	-1.51	0.08664	.	0.809286	0.11767	N	0.531480	T	0.72637	0.3485	L	0.42581	1.335	0.09310	N	1	P;B	0.36633	0.562;0.371	B;B	0.36186	0.219;0.112	T	0.63808	-0.6553	10	0.62326	D	0.03	.	12.5046	0.55973	0.4727:0.0:0.5273:0.0	.	138;137	Q8N118;G3V1U1	CP4X1_HUMAN;.	H	137;138	ENSP00000445965:R137H;ENSP00000360968:R138H	ENSP00000360968:R138H	R	+	2	0	CYP4X1	47271548	0.001000	0.12720	0.006000	0.13384	0.705000	0.40729	0.930000	0.28858	-0.069000	0.12931	-0.229000	0.12294	CGC		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033	
CREB3L4	148327	broad.mit.edu	37	1	153941905	153941905	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:153941905G>A	ENST00000368607.3	+	4	783	c.517G>A	c.(517-519)Gta>Ata	p.V173I	RP11-422P24.10_ENST00000608147.1_RNA|SLC39A1_ENST00000310483.6_5'Flank|CREB3L4_ENST00000405694.3_Missense_Mutation_p.V26I|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368601.1_Missense_Mutation_p.V173I|CREB3L4_ENST00000368600.3_Missense_Mutation_p.V153I|CREB3L4_ENST00000271889.4_Missense_Mutation_p.V173I|CREB3L4_ENST00000368603.1_Missense_Mutation_p.V173I	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	173					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGCAGGCACCGTAGCCCCAGT	0.532																																						uc001fdm.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(517-519)Gta>Ata		Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.							104.0	89.0	94.0					1																	153941905		2203	4300	6503	SO:0001583	missense	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941905G>A	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.517G>A	1.37:g.153941905G>A	ENSP00000357596:p.Val173Ile					SLC39A1_uc001fdl.3_5'Flank|CREB3L4_uc001fdn.3_Missense_Mutation_p.V173I|CREB3L4_uc010pef.1_Missense_Mutation_p.V26I|CREB3L4_uc001fdo.3_Missense_Mutation_p.V153I|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.V173I|CREB3L4_uc001fdq.2_Missense_Mutation_p.V153I	p.V173I	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	785	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		173					D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	c.517G>A	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	G	2.769	-0.256203	0.05829	.	.	ENSG00000143578	ENST00000405694;ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T;T	0.76578	-1.03;-0.03;-0.03;-0.03;0.94;-0.03;-0.03;0.9	4.68	-1.15	0.09709	.	1.298410	0.05553	N	0.567930	T	0.44286	0.1286	L	0.41236	1.265	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.12837	-1.0532	10	0.33141	T	0.24	.	4.3232	0.11027	0.278:0.0:0.4594:0.2626	.	153;173	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	I	26;153;173;173;173;173;153;173	ENSP00000385104:V26I;ENSP00000391847:V153I;ENSP00000357596:V173I;ENSP00000271889:V173I;ENSP00000357590:V173I;ENSP00000357592:V173I;ENSP00000357589:V153I;ENSP00000402308:V173I	ENSP00000271889:V173I	V	+	1	0	CREB3L4	152208529	0.000000	0.05858	0.000000	0.03702	0.259000	0.26198	-0.587000	0.05780	-0.757000	0.04697	-2.619000	0.00157	GTA		0.532	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898	
TOR1AIP1	26092	broad.mit.edu	37	1	179886766	179886766	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:179886766C>T	ENST00000606911.2	+	10	1335	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*	TOR1AIP1_ENST00000435319.4_Nonsense_Mutation_p.Q261*|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.Q398*|TOR1AIP1_ENST00000528443.2_Nonsense_Mutation_p.Q383*			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	382	Interaction with TOR1A.				positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GTACCAAGGTCAAGATGAGAA	0.443																																						uc001gnq.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(1144-1146)Caa>Taa		Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.							90.0	88.0	89.0					1																	179886766		2203	4300	6503	SO:0001587	stop_gained	26092					integral to membrane|nuclear inner membrane		g.chr1:179886766C>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1144C>T	1.37:g.179886766C>T	ENSP00000476687:p.Gln382*						p.Q382*	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			9	1362	+			382					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Nonsense_Mutation	SNP	ENST00000606911.2	37	c.1144C>T	CCDS1335.1	.	.	.	.	.	.	.	.	.	.	C	39	7.647917	0.98409	.	.	ENSG00000143337	ENST00000528443;ENST00000271583;ENST00000435319	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.8591	19.7816	0.96418	0.0:1.0:0.0:0.0	.	.	.	.	X	383;398;382	.	.	Q	+	1	0	TOR1AIP1	178153389	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.187000	0.77730	2.775000	0.95449	0.655000	0.94253	CAA		0.443	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602	
LAMC1	3915	broad.mit.edu	37	1	183087214	183087214	+	Silent	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						CTCTTACCCCTTTTGAATTTC	0.418																																						uc001gpy.4																			1	Substitution - coding silent(1)	p.P641P(2)|p.P641L(1)	lung(1)	NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(1921-1923)ccT>ccC		Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						122.0	127.0	125.0					1																	183087214		2203	4300	6503	SO:0001819	synonymous_variant	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183087214T>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1923T>C	1.37:g.183087214T>C							p.P641P	NM_002293	NP_002284	P11047	LAMC1_HUMAN			10	2180	+			641			Laminin IV type A.		Q5VYE7	Silent	SNP	ENST00000258341.4	37	c.1923T>C	CCDS1351.1																																																																																				0.418	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293	
PPFIA4	8497	broad.mit.edu	37	1	203014509	203014509	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:203014509G>A	ENST00000447715.2	+	11	1121	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	PPFIA4_ENST00000367240.2_Missense_Mutation_p.R227Q|PPFIA4_ENST00000295706.4_5'UTR|PPFIA4_ENST00000414050.2_5'Flank			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	227					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GATACGGGCCGGGTAGAGGAG	0.602																																						uc009xaj.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1120-1122)cGg>cAg		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.							14.0	14.0	14.0					1																	203014509		876	1990	2866	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203014509G>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.680G>A	1.37:g.203014509G>A	ENSP00000402576:p.Arg227Gln					PPFIA4_uc010pqf.2_5'UTR	p.R374Q			O75335	LIPA4_HUMAN			10	1121	+			144			SAM 1.		A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.1121G>A		.	.	.	.	.	.	.	.	.	.	G	9.434	1.086191	0.20390	.	.	ENSG00000143847	ENST00000367240;ENST00000447715	D;D	0.83163	-1.69;-1.69	4.37	2.49	0.30216	.	0.181702	0.25275	N	0.031842	T	0.70037	0.3178	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.57441	-0.7811	9	0.19590	T	0.45	-15.5802	8.7483	0.34600	0.1752:0.0:0.8248:0.0	.	227	B1N949	.	Q	227	ENSP00000356209:R227Q;ENSP00000402576:R227Q	ENSP00000356209:R227Q	R	+	2	0	PPFIA4	201281132	1.000000	0.71417	0.781000	0.31783	0.304000	0.27724	3.313000	0.51935	0.490000	0.27771	0.557000	0.71058	CGG		0.602	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053	
ELK4	2005	broad.mit.edu	37	1	205589407	205589407	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:205589407G>A	ENST00000357992.4	-	3	1106	c.767C>T	c.(766-768)tCg>tTg	p.S256L	ELK4_ENST00000468523.1_5'Flank|ELK4_ENST00000289703.4_Missense_Mutation_p.S256L	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	256					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGGTATGGACGAAATGGGTGG	0.522			T	SLC45A3	prostate																																	uc001hcy.2				Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	"""ETV1, ETV5, ELK4, ERG"""		prostate	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21						c.(766-768)tCg>tTg		Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.							160.0	166.0	164.0					1																	205589407		2203	4300	6503	SO:0001583	missense	2005				transmembrane transport	integral to membrane		g.chr1:205589407G>A	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.767C>T	1.37:g.205589407G>A	ENSP00000350681:p.Ser256Leu					SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.S256L	p.S256L	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		2	2017	-	Breast(84;0.07)		0					P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.767C>T	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	G	5.219	0.225912	0.09916	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.33865	1.71;1.39	5.64	3.77	0.43336	.	0.507497	0.23777	N	0.044672	T	0.25457	0.0619	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.09377	0.004;0.001	T	0.15867	-1.0422	10	0.44086	T	0.13	.	11.0455	0.47857	0.1514:0.0:0.8486:0.0	.	256;256	P28324-2;P28324	.;ELK4_HUMAN	L	346;256;256	ENSP00000350681:S256L;ENSP00000289703:S256L	ENSP00000289703:S256L	S	-	2	0	ELK4	203856030	0.070000	0.21116	0.002000	0.10522	0.007000	0.05969	2.622000	0.46427	0.747000	0.32809	0.655000	0.94253	TCG		0.522	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795	
MRPL55	128308	broad.mit.edu	37	1	228294495	228294495	+	Missense_Mutation	SNP	C	C	T	rs145809265		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:228294495C>T	ENST00000411464.2	-	5	1146	c.353G>A	c.(352-354)cGc>cAc	p.R118H	MRPL55_ENST00000366744.1_Missense_Mutation_p.R118H|MRPL55_ENST00000348259.5_Missense_Mutation_p.R118H|MRPL55_ENST00000430433.1_Missense_Mutation_p.R154H|MRPL55_ENST00000366731.5_Missense_Mutation_p.R154H|MRPL55_ENST00000336520.3_Missense_Mutation_p.R118H|MRPL55_ENST00000366742.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366741.1_Missense_Mutation_p.R118H|MRPL55_ENST00000336300.5_Missense_Mutation_p.R118H|MRPL55_ENST00000366740.1_Missense_Mutation_p.R118H|MRPL55_ENST00000295008.4_Missense_Mutation_p.R118H|MRPL55_ENST00000366739.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366746.3_Missense_Mutation_p.R118H|MRPL55_ENST00000366747.3_Missense_Mutation_p.R118H|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366734.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366735.1_Missense_Mutation_p.R118H|MRPL55_ENST00000391867.3_Missense_Mutation_p.R118H|MRPL55_ENST00000366733.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366738.1_Missense_Mutation_p.R154H|MRPL55_ENST00000366736.1_Missense_Mutation_p.R118H|MRPL55_ENST00000366732.1_Missense_Mutation_p.R115H			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	118					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CTGTCGGTAGCGCTCCACATG	0.592																																						uc001hrz.4																			0				central_nervous_system(1)|lung(4)	5						c.(460-462)cGc>cAc		Homo sapiens mitochondrial ribosomal protein L55 (MRPL55), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	147.0	122.0	130.0		353,353,353,353,461,353,353,353	-4.7	0.0	1	dbSNP_134	130	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense	MRPL55	NM_181441.2,NM_181454.2,NM_181455.2,NM_181456.2,NM_181462.2,NM_181463.2,NM_181464.2,NM_181465.2	29,29,29,29,29,29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign,benign	118/129,118/129,118/129,118/129,154/165,118/129,118/129,118/129	228294495	1,13005	2203	4300	6503	SO:0001583	missense	128308				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr1:228294495C>T	AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"""Mitochondrial ribosomal proteins / large subunits"""	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.353G>A	1.37:g.228294495C>T	ENSP00000401737:p.Arg118His					MRPL55_uc001hsg.4_Missense_Mutation_p.R118H|MRPL55_uc009xex.3_Missense_Mutation_p.R118H|MRPL55_uc001hsa.4_Missense_Mutation_p.R118H|MRPL55_uc001hsb.4_Missense_Mutation_p.R118H|MRPL55_uc001hsc.4_Missense_Mutation_p.R118H|MRPL55_uc001hsd.4_Missense_Mutation_p.R118H|MRPL55_uc001hse.4_Missense_Mutation_p.R118H|MRPL55_uc001hsf.4_Missense_Mutation_p.R118H	p.R154H	NM_181462	NP_852127	Q7Z7F7	RM55_HUMAN			5	750	-		Prostate(94;0.0405)	118					Q5TBY3|Q5TBY6|Q6UWI8	Missense_Mutation	SNP	ENST00000411464.2	37	c.461G>A	CCDS1567.1	.	.	.	.	.	.	.	.	.	.	C	7.727	0.698478	0.15106	2.27E-4	0.0	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	4.33	-4.69	0.03299	.	1.141580	0.06412	N	0.720743	T	0.25082	0.0609	L	0.38531	1.155	0.09310	N	0.999999	B;B	0.17667	0.023;0.008	B;B	0.12156	0.007;0.007	T	0.27434	-1.0074	10	0.44086	T	0.13	-4.3325	13.9505	0.64113	0.0:0.3013:0.0:0.6987	.	154;118	Q7Z7F7-2;Q7Z7F7	.;RM55_HUMAN	H	115;118;118;118;118;154;118;118;118;118;118;118;118;118;118;118;118;154;118;154;118	ENSP00000355693:R115H;ENSP00000355694:R118H;ENSP00000355695:R118H;ENSP00000355696:R118H;ENSP00000355697:R118H;ENSP00000355699:R154H;ENSP00000355702:R118H;ENSP00000355701:R118H;ENSP00000355700:R118H;ENSP00000355703:R118H;ENSP00000355705:R118H;ENSP00000338189:R118H;ENSP00000355708:R118H;ENSP00000355707:R118H;ENSP00000295008:R118H;ENSP00000337342:R118H;ENSP00000337361:R118H;ENSP00000403614:R154H;ENSP00000375740:R118H;ENSP00000355692:R154H;ENSP00000401737:R118H	ENSP00000295008:R118H	R	-	2	0	MRPL55	226361118	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.282000	0.02799	-1.358000	0.02177	-2.069000	0.00389	CGC		0.592	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092808.1	XM_059233	
RYR2	6262	broad.mit.edu	37	1	237632437	237632437	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:237632437G>A	ENST00000366574.2	+	17	1975	c.1658G>A	c.(1657-1659)gGc>gAc	p.G553D	MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000542537.1_Missense_Mutation_p.G537D|RYR2_ENST00000360064.6_Missense_Mutation_p.G551D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	553					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G551V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTCTGGCTCCCTCGAC	0.373																																						uc001hyl.1																			1	Substitution - Missense(1)	p.G551V(1)|p.L553L(1)	lung(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(1657-1659)gGc>gAc		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							127.0	124.0	125.0					1																	237632437		1819	4089	5908	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237632437G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1658G>A	1.37:g.237632437G>A	ENSP00000355533:p.Gly553Asp						p.G553D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1778	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	553					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1658G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204041	0.38905	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.88431	-2.38;-2.38;-2.38	4.94	4.03	0.46877	Intracellular calcium-release channel (1);	0.087062	0.44285	U	0.000476	T	0.74419	0.3714	N	0.03608	-0.345	0.80722	D	1	B	0.28667	0.219	B	0.30251	0.113	T	0.69209	-0.5205	10	0.27785	T	0.31	.	10.4983	0.44791	0.0929:0.0:0.9071:0.0	.	553	Q92736	RYR2_HUMAN	D	553;551;537	ENSP00000355533:G553D;ENSP00000353174:G551D;ENSP00000443798:G537D	ENSP00000353174:G551D	G	+	2	0	RYR2	235699060	1.000000	0.71417	0.996000	0.52242	0.787000	0.44495	5.765000	0.68834	1.079000	0.41038	0.563000	0.77884	GGC		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR2T11	127077	broad.mit.edu	37	1	248789661	248789661	+	Missense_Mutation	SNP	C	C	T	rs139227153	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:248789661C>T	ENST00000330803.2	-	1	830	c.769G>A	c.(769-771)Gtg>Atg	p.V257M		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGCAGCACGTATGTGTAG	0.532																																						uc001ier.1																			0		p.Y256Y(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28						c.(769-771)Gtg>Atg		Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.							75.0	69.0	71.0					1																	248789661		2048	4233	6281	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789661C>T	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.769G>A	1.37:g.248789661C>T	ENSP00000328934:p.Val257Met						p.V257M	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	769	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		257					Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.769G>A	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.738020	0.00681	.	.	ENSG00000183130	ENST00000330803	T	0.38560	1.13	4.24	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37906	N	0.001897	T	0.12732	0.0309	N	0.02111	-0.68	0.09310	N	1	B	0.21606	0.058	B	0.25987	0.065	T	0.37337	-0.9710	10	0.02654	T	1	.	6.3393	0.21314	0.1456:0.6842:0.0:0.1702	.	257	Q8NH01	O2T11_HUMAN	M	257	ENSP00000328934:V257M	ENSP00000328934:V257M	V	-	1	0	OR2T11	246856284	0.000000	0.05858	0.013000	0.15412	0.812000	0.45895	-1.730000	0.01855	0.399000	0.25367	0.655000	0.94253	GTG		0.532	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964	
NEBL	10529	broad.mit.edu	37	10	21185902	21185902	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr10:21185902C>T	ENST00000377122.4	-	2	534	c.138G>A	c.(136-138)acG>acA	p.T46T	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Silent_p.T46T|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	46					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATGAGTTCCGTGCATTTTC	0.353																																						uc001iqi.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(136-138)acG>acA		Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.							151.0	153.0	152.0					10																	21185902		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21185902C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.138G>A	10.37:g.21185902C>T						NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	p.T46T	NM_006393	NP_006384	O76041	NEBL_HUMAN			1	535	-			46					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.138G>A	CCDS7134.1																																																																																				0.353	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
OR52E2	119678	broad.mit.edu	37	11	5080175	5080175	+	Missense_Mutation	SNP	C	C	T	rs141087990	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:5080175C>T	ENST00000321522.2	-	1	682	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTAGGAAGACGGAAAACAGC	0.398																																						uc010qyw.2																			0				endometrium(2)|lung(13)|ovary(2)|skin(3)	20						c.(682-684)cGt>cAt		Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.		C	HIS/ARG	0,4402		0,0,2201	88.0	79.0	82.0		683	-5.7	0.7	11	dbSNP_134	82	3,8593	3.0+/-9.4	0,3,4295	yes	missense	OR52E2	NM_001005164.2	29	0,3,6496	TT,TC,CC		0.0349,0.0,0.0231	benign	228/326	5080175	3,12995	2201	4298	6499	SO:0001583	missense	119678				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5080175C>T	AB065800	CCDS31371.1	11p15.4	2012-08-09			ENSG00000176787	ENSG00000176787		"""GPCR / Class A : Olfactory receptors"""	14769	protein-coding gene	gene with protein product							Standard	NM_001005164		Approved		uc010qyw.2	Q8NGJ4	OTTHUMG00000066608	ENST00000321522.2:c.683G>A	11.37:g.5080175C>T	ENSP00000322088:p.Arg228His						p.R228H	NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)	0	683	-		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	228						Missense_Mutation	SNP	ENST00000321522.2	37	c.683G>A	CCDS31371.1	.	.	.	.	.	.	.	.	.	.	C	2.031	-0.422460	0.04734	0.0	3.49E-4	ENSG00000176787	ENST00000321522	T	0.00262	8.4	3.76	-5.65	0.02459	GPCR, rhodopsin-like superfamily (1);	0.259165	0.25726	N	0.028706	T	0.00144	0.0004	L	0.46614	1.455	0.09310	N	0.999997	B	0.15930	0.015	B	0.13407	0.009	T	0.44329	-0.9335	10	0.17832	T	0.49	.	12.8496	0.57850	0.0:0.5402:0.0:0.4598	.	228	Q8NGJ4	O52E2_HUMAN	H	228	ENSP00000322088:R228H	ENSP00000322088:R228H	R	-	2	0	OR52E2	5036751	0.000000	0.05858	0.732000	0.30844	0.183000	0.23260	-2.490000	0.00975	-1.319000	0.02286	-0.866000	0.03004	CGT		0.398	OR52E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142815.1	NM_001005164	
OR5W2	390148	broad.mit.edu	37	11	55681607	55681607	+	Missense_Mutation	SNP	A	A	G			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:55681607A>G	ENST00000344514.1	-	1	451	c.452T>C	c.(451-453)gTg>gCg	p.V151A		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	151						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(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCTATTCCCACCAGATAAAC	0.458																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(451-453)gTg>gCg		Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.							75.0	66.0	69.0					11																	55681607		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681607A>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.452T>C	11.37:g.55681607A>G	ENSP00000342448:p.Val151Ala						p.V151A	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			0	452	-			151						Missense_Mutation	SNP	ENST00000344514.1	37	c.452T>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	A	3.822	-0.037466	0.07497	.	.	ENSG00000187612	ENST00000344514	T	0.38240	1.15	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.686352	0.11902	N	0.518488	T	0.20414	0.0491	N	0.10629	0.01	0.09310	N	1	B	0.10296	0.003	B	0.20577	0.03	T	0.18461	-1.0336	10	0.16896	T	0.51	.	11.1186	0.48275	1.0:0.0:0.0:0.0	.	151	Q8NH69	OR5W2_HUMAN	A	151	ENSP00000342448:V151A	ENSP00000342448:V151A	V	-	2	0	OR5W2	55438183	0.002000	0.14202	0.003000	0.11579	0.618000	0.37518	1.080000	0.30779	1.874000	0.54306	0.448000	0.29417	GTG		0.458	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
GLYATL1	92292	broad.mit.edu	37	11	58722269	58722269	+	Nonsense_Mutation	SNP	C	C	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:58722269C>A	ENST00000317391.4	+	6	553	c.213C>A	c.(211-213)taC>taA	p.Y71*	GLYATL1_ENST00000300079.5_Nonsense_Mutation_p.Y102*|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	71						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGGATTCATACACAAACGTAT	0.373																																						uc001nnh.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34						c.(304-306)taC>taA		Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	Glycine(DB00145)						94.0	89.0	91.0					11																	58722269		2201	4295	6496	SO:0001587	stop_gained	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58722269C>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.213C>A	11.37:g.58722269C>A	ENSP00000322223:p.Tyr71*					GLYATL1_uc001nnf.3_Nonsense_Mutation_p.Y71*|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Nonsense_Mutation_p.Y71*|GLYATL1_uc001nnj.2_Nonsense_Mutation_p.Y71*	p.Y102*	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN			4	356	+			71					A6NDT0|Q7Z510|Q8NAW8	Nonsense_Mutation	SNP	ENST00000317391.4	37	c.306C>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	10.34	1.322795	0.23994	.	.	ENSG00000166840	ENST00000526351;ENST00000317391;ENST00000532726;ENST00000300079	.	.	.	2.37	-2.8	0.05823	.	0.782658	0.10400	U	0.679322	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.883	0.05653	0.2091:0.4967:0.0:0.2942	.	.	.	.	X	94;71;71;102	.	.	Y	+	3	2	GLYATL1	58478845	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-1.797000	0.01749	-0.702000	0.05056	0.195000	0.17529	TAC		0.373	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661	
NPAS4	266743	broad.mit.edu	37	11	66192332	66192332	+	Silent	SNP	C	C	T	rs552263741		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:66192332C>T	ENST00000311034.2	+	7	2147	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	657					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.G657G(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGCACTGGCGGACTAGAGC	0.582																																						uc001ohx.1																			1	Substitution - coding silent(1)	p.G657G(2)	large_intestine(1)	breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(1969-1971)ggC>ggT		Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.							103.0	107.0	106.0					11																	66192332		2200	4295	6495	SO:0001819	synonymous_variant	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192332C>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1971C>T	11.37:g.66192332C>T						NPAS4_uc010rpc.1_Silent_p.G447G	p.G657G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			6	2147	+			657					B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	ENST00000311034.2	37	c.1971C>T	CCDS8138.1																																																																																				0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864	
ARHGEF17	9828	broad.mit.edu	37	11	73020926	73020926	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:73020926G>A	ENST00000263674.3	+	1	1593	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	415					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGGCTGGGGCGTGTACCGCTC	0.657																																						uc001otu.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						c.(1243-1245)Gtg>Atg		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.							37.0	39.0	38.0					11																	73020926		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73020926G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.1243G>A	11.37:g.73020926G>A	ENSP00000263674:p.Val415Met						p.V415M	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			0	1264	+			415					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.1243G>A	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	G	8.212	0.800448	0.16397	.	.	ENSG00000110237	ENST00000263674	T	0.54866	0.55	4.43	-1.63	0.08345	.	0.405230	0.18205	N	0.148388	T	0.22898	0.0553	N	0.11560	0.145	0.26065	N	0.981306	B	0.06786	0.001	B	0.08055	0.003	T	0.06162	-1.0842	10	0.27082	T	0.32	-1.8821	1.884	0.03234	0.5023:0.134:0.2115:0.1522	.	415	Q96PE2	ARHGH_HUMAN	M	415	ENSP00000263674:V415M	ENSP00000263674:V415M	V	+	1	0	ARHGEF17	72698574	0.106000	0.21978	0.391000	0.26233	0.816000	0.46133	0.530000	0.23036	-0.000000	0.14550	0.462000	0.41574	GTG		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
RECQL	5965	broad.mit.edu	37	12	21643134	21643134	+	Splice_Site	SNP	A	A	G			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:21643134A>G	ENST00000444129.2	-	4	861	c.393T>C	c.(391-393)gaT>gaC	p.D131D	RECQL_ENST00000421138.2_Splice_Site_p.D131D	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	131	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTACATACCATCTGAACATA	0.289								Other identified genes with known or suspected DNA repair function																														uc001rex.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						c.e5+1	Other identified genes with known or suspected DNA repair function	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.							88.0	85.0	86.0					12																	21643134		2203	4300	6503	SO:0001630	splice_region_variant	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21643134A>G	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.394+1T>C	12.37:g.21643134A>G						RECQL_uc001rey.3_Splice_Site_p.G132_splice	p.G132_splice	NM_032941	NP_116559	P46063	RECQ1_HUMAN			5	742	-			132			Helicase ATP-binding.		A8K6G2	Silent	SNP	ENST00000444129.2	37	c.394_splice	CCDS31756.1																																																																																				0.289	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907	Silent
MPHOSPH9	10198	broad.mit.edu	37	12	123661241	123661241	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:123661241C>T	ENST00000606320.1	-	16	2656	c.2450G>A	c.(2449-2451)cGt>cAt	p.R817H	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.R787H|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.R665H|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.R665H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	817						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTACTTGGCACGCGAGGGTCT	0.353																																						uc001uel.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33						c.(1993-1995)cGt>cAt		Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.							106.0	103.0	104.0					12																	123661241		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123661241C>T	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2450G>A	12.37:g.123661241C>T	ENSP00000475489:p.Arg817His					MPHOSPH9_uc010tal.2_Missense_Mutation_p.R119H|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.R119H	p.R665H	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	11	2102	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		665					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.1994G>A		.	.	.	.	.	.	.	.	.	.	C	5.060	0.196661	0.09599	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.31769	1.48;1.49	5.19	-0.392	0.12442	.	0.707775	0.13661	N	0.371592	T	0.22513	0.0543	L	0.57536	1.79	0.18873	N	0.999981	B	0.10296	0.003	B	0.04013	0.001	T	0.30238	-0.9985	10	0.14252	T	0.57	-1.8849	5.2467	0.15500	0.1422:0.4605:0.0:0.3973	.	665	Q99550	MPP9_HUMAN	H	665	ENSP00000303597:R665H;ENSP00000445859:R665H	ENSP00000303597:R665H	R	-	2	0	MPHOSPH9	122227194	0.020000	0.18652	0.967000	0.41034	0.485000	0.33311	-0.221000	0.09202	0.206000	0.20587	0.491000	0.48974	CGT		0.353	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2		
UGGT2	55757	broad.mit.edu	37	13	96578002	96578002	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr13:96578002G>A	ENST00000376747.3	-	20	2297	c.2227C>T	c.(2227-2229)Ctc>Ttc	p.L743F		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	743					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATAATCCAGAGAGTGACTGCA	0.308																																						uc001vmt.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2227-2229)Ctc>Ttc		Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.							58.0	63.0	61.0					13																	96578002		2203	4293	6496	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96578002G>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2227C>T	13.37:g.96578002G>A	ENSP00000365938:p.Leu743Phe						p.L743F	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			19	2397	-			743					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2227C>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	G	3.069	-0.191648	0.06299	.	.	ENSG00000102595	ENST00000376747	T	0.08896	3.04	6.16	-0.691	0.11305	.	0.501649	0.23616	N	0.046285	T	0.02610	0.0079	N	0.10945	0.07	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.45160	-0.9280	10	0.10636	T	0.68	-0.0104	0.4102	0.00440	0.2245:0.1847:0.2101:0.3807	.	743	Q9NYU1	UGGG2_HUMAN	F	743	ENSP00000365938:L743F	ENSP00000365938:L743F	L	-	1	0	UGGT2	95376003	0.963000	0.33076	0.995000	0.50966	0.785000	0.44390	0.007000	0.13174	-0.062000	0.13088	-0.172000	0.13284	CTC		0.308	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121	
SLC38A6	145389	broad.mit.edu	37	14	61518523	61518525	+	In_Frame_Del	DEL	ATG	ATG	-	rs530415277		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:61518523_61518525delATG	ENST00000267488.4	+	14	1185_1187	c.1069_1071delATG	c.(1069-1071)atgdel	p.M358del	SLC38A6_ENST00000354886.2_In_Frame_Del_p.M358del|SLC38A6_ENST00000456840.2_In_Frame_Del_p.M335del	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	358					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AGCTGTAACAATGATGTTTTTCT	0.34																																						uc001xfh.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21						c.(1069-1071)atgdel		Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61518523_61518525delATG	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.1069_1071delATG	14.37:g.61518526_61518528delATG	ENSP00000267488:p.Met358del					SLC38A6_uc001xfg.2_In_Frame_Del_p.M358del|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_In_Frame_Del_p.M335del	p.M358del	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	13	1233_1235	+			358					C9JWA6|Q86SY5	In_Frame_Del	DEL	ENST00000267488.4	37	c.1069_1071delATG	CCDS9751.1																																																																																				0.340	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1		
SERPINA11	256394	broad.mit.edu	37	14	94912695	94912695	+	Missense_Mutation	SNP	C	C	G	rs148183767		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:94912695C>G	ENST00000334708.3	-	3	954	c.890G>C	c.(889-891)aGa>aCa	p.R297T	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	297					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCCCCATTTTCTCAGGGTCTG	0.562																																						uc001ydd.1																			0		p.D296G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24						c.(889-891)aGa>aCa		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.							87.0	85.0	86.0					14																	94912695		2203	4300	6503	SO:0001583	missense	256394				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94912695C>G	BX248259	CCDS32149.1	14q32.13	2014-02-18	2005-08-18		ENSG00000186910	ENSG00000186910		"""Serine (or cysteine) peptidase inhibitors"""	19193	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11"""			15014966, 24172014	Standard	NM_001080451		Approved		uc001ydd.1	Q86U17	OTTHUMG00000171348	ENST00000334708.3:c.890G>C	14.37:g.94912695C>G	ENSP00000335024:p.Arg297Thr						p.R297T	NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	950	-			297					B2RV07	Missense_Mutation	SNP	ENST00000334708.3	37	c.890G>C	CCDS32149.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463780	0.26335	.	.	ENSG00000186910	ENST00000334708	D	0.84223	-1.82	5.53	-1.65	0.08291	Serpin domain (3);	0.588815	0.16451	N	0.213858	T	0.70316	0.3210	L	0.28776	0.89	0.09310	N	1	B	0.24618	0.107	B	0.25614	0.062	T	0.54840	-0.8233	10	0.12430	T	0.62	.	7.1264	0.25473	0.0:0.3068:0.383:0.3101	.	297	Q86U17	SPA11_HUMAN	T	297	ENSP00000335024:R297T	ENSP00000335024:R297T	R	-	2	0	SERPINA11	93982448	0.000000	0.05858	0.458000	0.27068	0.981000	0.71138	-0.013000	0.12678	-0.206000	0.10203	0.555000	0.69702	AGA		0.562	SERPINA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413091.1	NM_001080451	
TRPM1	4308	broad.mit.edu	37	15	31360288	31360288	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr15:31360288C>T	ENST00000256552.6	-	5	434	c.287G>A	c.(286-288)cGt>cAt	p.R96H	TRPM1_ENST00000397795.2_Missense_Mutation_p.R74H|TRPM1_ENST00000542188.1_Missense_Mutation_p.R113H|MIR211_ENST00000384969.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATAGGATACACGGATATACTG	0.493																																						uc021sia.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(337-339)cGt>cAt		Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.							93.0	95.0	94.0					15																	31360288		2053	4195	6248	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31360288C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.287G>A	15.37:g.31360288C>T	ENSP00000256552:p.Arg96His					TRPM1_uc010azy.3_5'UTR|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R96H|TRPM1_uc001zfm.3_Missense_Mutation_p.R74H|MIR211_uc010ubm.1_5'Flank|TRPM1_uc010ubn.1_5'Flank	p.R113H	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	3	652	-		all_lung(180;1.92e-11)	74						Missense_Mutation	SNP	ENST00000256552.6	37	c.338G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487123	0.96323	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.05139	3.49;3.49;3.49	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.33059	0.0850	M	0.92880	3.355	0.80722	D	1	D	0.69078	0.997	P	0.59487	0.858	T	0.31081	-0.9956	10	0.62326	D	0.03	-20.9439	20.3116	0.98642	0.0:1.0:0.0:0.0	.	74	Q7Z4N2	TRPM1_HUMAN	H	74;113;96;74	ENSP00000380897:R74H;ENSP00000437849:R113H;ENSP00000256552:R96H	ENSP00000256552:R96H	R	-	2	0	TRPM1	29147580	1.000000	0.71417	0.964000	0.40570	0.948000	0.59901	7.811000	0.86092	2.793000	0.96121	0.650000	0.86243	CGT		0.493	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420	
DNM1P47	100216544	broad.mit.edu	37	15	102292812	102292812	+	RNA	SNP	G	G	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr15:102292812G>T	ENST00000561463.1	+	0	858									DNM1 pseudogene 47																		CTGCACTCGCGTGGGAACGAG	0.607																																						uc010usj.2																			0											c.(400-402)Gtg>Ttg		Homo sapiens cDNA clone IMAGE:40009338.																																						100216544							g.chr15:102292812G>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292812G>T						DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank	p.V134L							3	459	+									Missense_Mutation	SNP	ENST00000561463.1	37	c.400G>T																																																																																					0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149	
AC009120.6	0	broad.mit.edu	37	16	74371421	74371421	+	RNA	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr16:74371421C>T	ENST00000561921.1	-	0	0				RP11-252A24.2_ENST00000429810.2_RNA																							ATACCCTCCACCCTCGTTGAG	0.522																																						uc002fcr.2																			0											c.(556-558)gGt>gAt		Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																																						283922							g.chr16:74371421C>T																													16.37:g.74371421C>T						LOC283922_uc010vms.1_Non-coding_Transcript	p.G186D							10	1903	-									Missense_Mutation	SNP	ENST00000561921.1	37	c.557G>A																																																																																					0.522	AC009120.6-004	KNOWN	basic	antisense	antisense	OTTHUMT00000435713.1		
COX10	1352	broad.mit.edu	37	17	14110443	14110443	+	Missense_Mutation	SNP	C	C	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:14110443C>A	ENST00000261643.3	+	7	1322	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	COX10_ENST00000536205.1_Missense_Mutation_p.S223R|COX10_ENST00000537334.1_Missense_Mutation_p.S198R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	415					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCTTCTGCAGCCTGTGGCACC	0.657																																						uc002gof.4																			0				cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1243-1245)agC>agA		Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.							35.0	35.0	35.0					17																	14110443		2203	4300	6503	SO:0001583	missense	1352				heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity	g.chr17:14110443C>A	U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.1245C>A	17.37:g.14110443C>A	ENSP00000261643:p.Ser415Arg					COX10_uc010vvs.2_Missense_Mutation_p.S198R|COX10_uc010vvt.2_Missense_Mutation_p.S223R	p.S415R	NM_001303	NP_001294	Q12887	COX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)	6	1449	+		all_lung(20;0.06)|Lung SC(565;0.168)	415					B2R6U5|B4DJ50|O15334|Q969F7	Missense_Mutation	SNP	ENST00000261643.3	37	c.1245C>A	CCDS11166.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264020	0.80358	.	.	ENSG00000006695	ENST00000261643;ENST00000536205;ENST00000537334	D;D;D	0.92699	-3.09;-3.09;-3.09	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.97688	0.9242	H	0.98980	4.39	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98579	1.0649	10	0.87932	D	0	.	13.5899	0.61953	0.0:0.9215:0.0:0.0785	.	223;415	B4DJ50;Q12887	.;COX10_HUMAN	R	415;223;198	ENSP00000261643:S415R;ENSP00000439494:S223R;ENSP00000443354:S198R	ENSP00000261643:S415R	S	+	3	2	COX10	14051168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.010000	0.49559	2.386000	0.81285	0.561000	0.74099	AGC		0.657	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303	
NF1	4763	broad.mit.edu	37	17	29654691	29654691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:29654691C>T	ENST00000358273.4	+	38	5826	c.5443C>T	c.(5443-5445)Cag>Tag	p.Q1815*	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1794*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1815	Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q1815*(1)|p.H1814fs*43(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTCATGCACCAGGAGTGTGA	0.493			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	13	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)|Deletion - Frameshift(1)	p.0?(8)|p.?(3)|p.Q1815*(2)|p.H1814fs*43(2)|p.Q1815L(1)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CM950848	NF1	M		c.(5443-5445)Cag>Tag		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							135.0	127.0	130.0					17																	29654691		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29654691C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5443C>T	17.37:g.29654691C>T	ENSP00000351015:p.Gln1815*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Nonsense_Mutation_p.Q1794*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q827*|NF1_uc010cso.3_Nonsense_Mutation_p.Q3*	p.Q1815*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	37	5826	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1815					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5443C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	43	10.493055	0.99415	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	19.5155	0.95162	0.0:1.0:0.0:0.0	.	.	.	.	X	1815;1794;1460	.	ENSP00000348498:Q1794X	Q	+	1	0	NF1	26678817	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.846000	0.97976	0.644000	0.83932	CAG		0.493	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
ABHD3	171586	broad.mit.edu	37	18	19283692	19283692	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr18:19283692G>A	ENST00000289119.2	-	2	318	c.179C>T	c.(178-180)aCc>aTc	p.T60I	ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000580981.1_Missense_Mutation_p.T60I|ABHD3_ENST00000579875.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	60						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTCACCCCCGGTCACTAACTG	0.547																																						uc002ktl.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						c.(178-180)aCc>aTc		Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.							57.0	56.0	56.0					18																	19283692		2203	4300	6503	SO:0001583	missense	171586					integral to membrane	carboxylesterase activity	g.chr18:19283692G>A	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.179C>T	18.37:g.19283692G>A	ENSP00000289119:p.Thr60Ile					ABHD3_uc010xao.1_Intron|MIB1_uc002ktp.3_5'Flank	p.T60I	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN			1	319	-			60					B0YIV0|B7Z5C2|O43411	Missense_Mutation	SNP	ENST00000289119.2	37	c.179C>T	CCDS32802.1	.	.	.	.	.	.	.	.	.	.	G	8.456	0.854266	0.17106	.	.	ENSG00000158201	ENST00000289119	T	0.08896	3.04	4.68	2.85	0.33270	.	0.479844	0.24091	N	0.041636	T	0.06826	0.0174	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28902	-1.0029	10	0.33141	T	0.24	2.1168	7.9735	0.30140	0.2574:0.0:0.7426:0.0	.	60	Q8WU67	ABHD3_HUMAN	I	60	ENSP00000289119:T60I	ENSP00000289119:T60I	T	-	2	0	ABHD3	17537690	1.000000	0.71417	0.379000	0.26080	0.209000	0.24338	5.254000	0.65457	0.491000	0.27793	0.561000	0.74099	ACC		0.547	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1		
PIK3R2	5296	broad.mit.edu	37	19	18280055	18280055	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:18280055C>T	ENST00000593731.1	+	16	2698	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PIK3R2_ENST00000222254.8_Missense_Mutation_p.A713V			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	713	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GTCACCCTGGCGCACCCAGTg	0.751																																						uc002nia.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						c.(2137-2139)gCg>gTg		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.							8.0	8.0	8.0					19																	18280055		2157	4220	6377	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18280055C>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.2138C>T	19.37:g.18280055C>T	ENSP00000471914:p.Ala713Val					PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	p.A713V	NM_005027	NP_005018	O00459	P85B_HUMAN			15	2650	+			713			SH2 2.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.2138C>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	C	37	6.422498	0.97555	.	.	ENSG00000105647	ENST00000222254	T	0.51574	0.7	3.99	3.99	0.46301	SH2 motif (2);	0.060383	0.64402	D	0.000003	T	0.60274	0.2256	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.65129	-0.6243	10	0.72032	D	0.01	-12.329	15.912	0.79479	0.0:1.0:0.0:0.0	.	713	O00459	P85B_HUMAN	V	713	ENSP00000222254:A713V	ENSP00000222254:A713V	A	+	2	0	PIK3R2	18141055	1.000000	0.71417	0.734000	0.30879	0.657000	0.38888	7.577000	0.82486	2.181000	0.69327	0.462000	0.41574	GCG		0.751	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027	
DHX34	9704	broad.mit.edu	37	19	47876058	47876058	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:47876058G>A	ENST00000328771.4	+	8	2189	c.1840G>A	c.(1840-1842)Gtc>Atc	p.V614I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	614					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCACTTAGCGTCCAGTCGCC	0.672																																						uc010xyn.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1840-1842)Gtc>Atc		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.							44.0	41.0	42.0					19																	47876058		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47876058G>A	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1840G>A	19.37:g.47876058G>A	ENSP00000331907:p.Val614Ile					DHX34_uc010elc.1_Missense_Mutation_p.V529I	p.V614I	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	7	2189	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	614					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1840G>A	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140601	0.77775	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.05649	3.41	5.3	5.3	0.74995	Helicase-associated domain (2);	0.000000	0.52532	D	0.000072	T	0.16769	0.0403	L	0.39245	1.2	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.01786	-1.1274	10	0.32370	T	0.25	-51.8232	17.7142	0.88331	0.0:0.0:1.0:0.0	.	614	Q14147	DHX34_HUMAN	I	614;529	ENSP00000331907:V614I	ENSP00000257252:V529I	V	+	1	0	DHX34	52567872	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	9.087000	0.94110	2.474000	0.83562	0.655000	0.94253	GTC		0.672	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681	
SIGLEC12	89858	broad.mit.edu	37	19	52004890	52004890	+	Missense_Mutation	SNP	G	G	A	rs141817270		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:52004890G>A	ENST00000291707.3	-	1	153	c.98C>T	c.(97-99)aCg>aTg	p.T33M	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	33	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCTGCACCGTCACGGACTT	0.577																																						uc002pwx.1																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(97-99)aCg>aTg		Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.		G	MET/THR	1,4405		0,1,2202	106.0	77.0	87.0		98	-4.2	0.0	19	dbSNP_134	87	0,8600		0,0,4300	no	missense	SIGLEC12	NM_053003.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	33/596	52004890	1,13005	2203	4300	6503	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52004890G>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.98C>T	19.37:g.52004890G>A	ENSP00000291707:p.Thr33Met					SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	p.T33M	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	0	154	-		all_neural(266;0.0199)	33			Ig-like V-type 1.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.98C>T	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	13.60	2.286456	0.40494	2.27E-4	0.0	ENSG00000254521	ENST00000291707	T	0.51325	0.71	2.09	-4.17	0.03857	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46367	0.1389	M	0.77103	2.36	0.09310	N	1	D	0.71674	0.998	P	0.47626	0.552	T	0.43147	-0.9409	9	0.54805	T	0.06	.	3.7594	0.08598	0.1592:0.0:0.2422:0.5986	.	33	Q96PQ1	SIG12_HUMAN	M	33	ENSP00000291707:T33M	ENSP00000291707:T33M	T	-	2	0	SIGLEC12	56696702	0.000000	0.05858	0.049000	0.19019	0.459000	0.32528	-1.602000	0.02079	-0.706000	0.05028	0.503000	0.49774	ACG		0.577	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
ZNF761	388561	broad.mit.edu	37	19	53958627	53958627	+	RNA	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:53958627G>A	ENST00000454407.1	+	0	1319							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCGTAGACTTCAT	0.398																																						uc010eqp.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(865-867)cGt>cAt		Homo sapiens zinc finger protein 761 (ZNF761), mRNA.							158.0	152.0	154.0					19																	53958627		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958627G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958627G>A						ZNF761_uc010ydy.2_Missense_Mutation_p.R235H|ZNF761_uc002qbt.2_Missense_Mutation_p.R235H	p.R289H	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	6	1324	+			289					Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37	c.866G>A																																																																																					0.398	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401	
EPS8L1	54869	broad.mit.edu	37	19	55597484	55597484	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:55597484G>A	ENST00000201647.6	+	16	1630	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	EPS8L1_ENST00000588359.1_Missense_Mutation_p.G211E|EPS8L1_ENST00000540810.1_Missense_Mutation_p.G461E|EPS8L1_ENST00000245618.5_Missense_Mutation_p.G398E|EPS8L1_ENST00000586329.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	525	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGCAGGAGGGATATGTGCCC	0.622																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(1573-1575)gGa>gAa		Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.							95.0	100.0	98.0					19																	55597484		2203	4300	6503	SO:0001583	missense	54869					cytoplasm		g.chr19:55597484G>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1574G>A	19.37:g.55597484G>A	ENSP00000201647:p.Gly525Glu					EPS8L1_uc010ess.1_Missense_Mutation_p.G539E|EPS8L1_uc010yfr.2_Missense_Mutation_p.G461E|EPS8L1_uc002qiu.3_Missense_Mutation_p.G398E|EPS8L1_uc002qiv.3_Missense_Mutation_p.G203E|EPS8L1_uc002qiw.3_Missense_Mutation_p.G304E	p.G525E	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	15	1678	+			525			SH3.		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.1574G>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172677	0.78452	.	.	ENSG00000131037	ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	D;D;D	0.88201	-2.35;-2.35;-2.35	4.43	4.43	0.53597	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.96923	0.8995	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98446	1.0589	10	0.87932	D	0	-17.6887	14.8794	0.70519	0.0:0.0:1.0:0.0	.	304;398;525	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	E	525;461;398;211	ENSP00000201647:G525E;ENSP00000437541:G461E;ENSP00000245618:G398E	ENSP00000201647:G525E	G	+	2	0	EPS8L1	60289296	1.000000	0.71417	0.997000	0.53966	0.586000	0.36452	8.138000	0.89613	2.188000	0.69820	0.484000	0.47621	GGA		0.622	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729	
NPHP1	4867	broad.mit.edu	37	2	110922207	110922207	+	Nonsense_Mutation	SNP	G	G	A	rs367600757		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:110922207G>A	ENST00000393272.3	-	8	926	c.829C>T	c.(829-831)Cga>Tga	p.R277*	NPHP1_ENST00000355301.4_Intron|NPHP1_ENST00000417665.1_Intron|NPHP1_ENST00000316534.4_Nonsense_Mutation_p.R277*|NPHP1_ENST00000445609.2_Intron	NM_000272.3|NM_207181.2	NP_000263.2|NP_997064.2	O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	277					actin cytoskeleton organization (GO:0030036)|cell projection organization (GO:0030030)|cellular protein localization (GO:0034613)|excretion (GO:0007588)|photoreceptor cell outer segment organization (GO:0035845)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|spermatid differentiation (GO:0048515)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ATCCTATTTCGCATCAGAACT	0.458																																						uc002tfn.4																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						c.(829-831)Cga>Tga		Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.		G	stop/ARG,,,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	180.0	177.0	178.0		829,,,829	0.5	0.1	2		178	0,8600		0,0,4300	no	stop-gained,intron,intron,stop-gained	NPHP1	NM_000272.3,NM_001128178.1,NM_001128179.1,NM_207181.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	277/734,,,277/733	110922207	1,13005	2203	4300	6503	SO:0001587	stop_gained	4867				actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity	g.chr2:110922207G>A	AF023674	CCDS2086.1, CCDS46384.1, CCDS46385.1, CCDS46386.1	2q13	2014-01-28			ENSG00000144061	ENSG00000144061			7905	protein-coding gene	gene with protein product	"""nephrocystin-1"""	607100		NPH1			Standard	NM_000272		Approved	JBTS4, SLSN1	uc002tfm.4	O15259	OTTHUMG00000131195	ENST00000393272.3:c.829C>T	2.37:g.110922207G>A	ENSP00000376953:p.Arg277*					NPHP1_uc002tfm.4_Intron|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R277*|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Intron|NPHP1_uc010fjv.1_Intron	p.R277*	NM_207181	NP_997064	O15259	NPHP1_HUMAN			7	923	-			277					O14837	Nonsense_Mutation	SNP	ENST00000393272.3	37	c.829C>T	CCDS46385.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252936	0.59212	2.27E-4	0.0	ENSG00000144061	ENST00000316534;ENST00000393272	.	.	.	3.61	0.479	0.16796	.	1.162760	0.06943	U	0.813248	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-0.0047	5.3586	0.16075	0.1198:0.4066:0.4735:0.0	.	.	.	.	X	277	.	ENSP00000313169:R277X	R	-	1	2	NPHP1	110279496	0.000000	0.05858	0.149000	0.22428	0.001000	0.01503	-0.136000	0.10405	0.328000	0.23435	-1.141000	0.01876	CGA		0.458	NPHP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253919.3	NM_000272	
NCKAP5	344148	broad.mit.edu	37	2	133547632	133547632	+	Silent	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:133547632G>A	ENST00000409261.1	-	13	1429	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	NCKAP5_ENST00000405974.3_Silent_p.S352S|NCKAP5_ENST00000409213.1_Silent_p.S352S|NCKAP5_ENST00000317721.6_Silent_p.S352S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	352	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCACGTGTAGGAGGAGCCAC	0.522																																						uc002ttp.3																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(1054-1056)tcC>tcT		Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.							60.0	64.0	63.0					2																	133547632		2048	4202	6250	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133547632G>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1056C>T	2.37:g.133547632G>A						NCKAP5_uc002ttq.3_Silent_p.S352S	p.S352S	NM_207363	NP_997246	O14513	NCKP5_HUMAN			12	1430	-			352			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.1056C>T	CCDS46418.1																																																																																				0.522	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
ITGA6	3655	broad.mit.edu	37	2	173356005	173356005	+	Silent	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:173356005C>T	ENST00000264106.6	+	23	3155	c.2952C>T	c.(2950-2952)gaC>gaT	p.D984D	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Silent_p.D984D|ITGA6_ENST00000409532.1_Silent_p.D826D|ITGA6_ENST00000343713.4_Silent_p.D940D|ITGA6_ENST00000409080.1_Silent_p.D945D|ITGA6_ENST00000264107.7_Silent_p.D945D			P23229	ITA6_HUMAN	integrin, alpha 6	984					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGGGGCTGGACAGCAAGGCGT	0.473																																						uc002uhp.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(2833-2835)gaC>gaT		Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.							136.0	139.0	138.0					2																	173356005		2203	4300	6503	SO:0001819	synonymous_variant	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173356005C>T		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2952C>T	2.37:g.173356005C>T						ITGA6_uc010zdy.1_Silent_p.D826D|ITGA6_uc002uho.1_Silent_p.D945D|ITGA6_uc010fqm.1_Silent_p.D576D	p.D945D	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		21	3038	+			984					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37	c.2835C>T																																																																																					0.473	ITGA6-201	KNOWN	basic	protein_coding	protein_coding			
PLCL1	5334	broad.mit.edu	37	2	198950624	198950624	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:198950624C>T	ENST00000428675.1	+	2	2781	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C	PLCL1_ENST00000437704.2_Missense_Mutation_p.R697C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	795	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCCATGATCCGTTTTGTTGT	0.398																																						uc010fsp.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2383-2385)Cgt>Tgt		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						164.0	154.0	158.0					2																	198950624		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950624C>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2383C>T	2.37:g.198950624C>T	ENSP00000402861:p.Arg795Cys					PLCL1_uc002uuv.4_Missense_Mutation_p.R716C	p.R795C	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			1	2781	+			795			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2383C>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735897	0.69189	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.70516	-0.49;-0.49	5.5	5.5	0.81552	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.100268	0.43260	D	0.000587	D	0.87680	0.6238	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88741	0.3243	9	.	.	.	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	795;721	Q15111;B4DYZ4	PLCL1_HUMAN;.	C	795;697	ENSP00000402861:R795C;ENSP00000414138:R697C	.	R	+	1	0	PLCL1	198658869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.641000	0.83368	2.861000	0.98227	0.655000	0.94253	CGT		0.398	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
ZNF831	128611	broad.mit.edu	37	20	57767405	57767405	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr20:57767405C>T	ENST00000371030.2	+	1	1331	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	444							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCTGCCCACGCCCTACACC	0.682																																						uc002yan.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1330-1332)aCg>aTg		Homo sapiens zinc finger protein 831 (ZNF831), mRNA.							32.0	39.0	36.0					20																	57767405		2082	4184	6266	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767405C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1331C>T	20.37:g.57767405C>T	ENSP00000360069:p.Thr444Met						p.T444M	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			0	1331	+	all_lung(29;0.0085)		444					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1331C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	0.045	-1.270911	0.01421	.	.	ENSG00000124203	ENST00000371030	T	0.11495	2.77	5.21	1.6	0.23607	.	.	.	.	.	T	0.02156	0.0067	N	0.00347	-1.61	0.22305	N	0.999219	B	0.15930	0.015	B	0.04013	0.001	T	0.44003	-0.9356	9	0.02654	T	1	-4.3133	8.6593	0.34081	0.0:0.2188:0.0:0.7812	.	444	Q5JPB2	ZN831_HUMAN	M	444	ENSP00000360069:T444M	ENSP00000360069:T444M	T	+	2	0	ZNF831	57200800	1.000000	0.71417	0.997000	0.53966	0.758000	0.43043	1.232000	0.32636	0.002000	0.14630	-0.793000	0.03317	ACG		0.682	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
TMPRSS15	5651	broad.mit.edu	37	21	19687506	19687506	+	Silent	SNP	G	G	A	rs148711749	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr21:19687506G>A	ENST00000284885.3	-	17	2022	c.1989C>T	c.(1987-1989)gaC>gaT	p.D663D		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	663	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D663D(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAGATGACCGTCACAGAGAT	0.398													G|||	9	0.00179712	0.0	0.0014	5008	,	,		17607	0.002		0.006	False		,,,				2504	0.0					uc002ykw.3																			1	Substitution - coding silent(1)	p.D663D(2)	endometrium(1)	NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1987-1989)gaC>gaT		Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.		G		3,4403	6.2+/-15.9	0,3,2200	171.0	141.0	151.0		1989	-8.0	0.0	21	dbSNP_134	151	22,8578	15.3+/-51.7	0,22,4278	no	coding-synonymous	TMPRSS15	NM_002772.2		0,25,6478	AA,AG,GG		0.2558,0.0681,0.1922		663/1020	19687506	25,12981	2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19687506G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1989C>T	21.37:g.19687506G>A							p.D663D	NM_002772	NP_002763	P98073	ENTK_HUMAN			16	2020	-			663			LDL-receptor class A 2.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1989C>T	CCDS13571.1																																																																																				0.398	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
SLC5A1	6523	broad.mit.edu	37	22	32445981	32445981	+	Nonsense_Mutation	SNP	C	C	T	rs202166715		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:32445981C>T	ENST00000266088.4	+	2	437	c.187C>T	c.(187-189)Cga>Tga	p.R63*		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	63					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	CCTGGCAGGCCGAAGTATGGT	0.448																																						uc003amc.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37	GRCh37	CM042476	SLC5A1	M		c.(187-189)Cga>Tga		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.							210.0	199.0	203.0					22																	32445981		2203	4300	6503	SO:0001587	stop_gained	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32445981C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.187C>T	22.37:g.32445981C>T	ENSP00000266088:p.Arg63*						p.R63*	NM_000343	NP_000334	P13866	SC5A1_HUMAN			1	437	+			63					B2R7E2|B7Z4Q9|B7ZA69	Nonsense_Mutation	SNP	ENST00000266088.4	37	c.187C>T	CCDS13902.1	.	.	.	.	.	.	.	.	.	.	C	39	7.390816	0.98255	.	.	ENSG00000100170	ENST00000266088	.	.	.	5.55	4.47	0.54385	.	0.111691	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8756	0.46909	0.1876:0.8124:0.0:0.0	.	.	.	.	X	63	.	ENSP00000266088:R63X	R	+	1	2	SLC5A1	30775981	0.765000	0.28485	1.000000	0.80357	0.990000	0.78478	0.569000	0.23638	2.609000	0.88269	0.551000	0.68910	CGA		0.448	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343	
CARD10	29775	broad.mit.edu	37	22	37906263	37906263	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:37906263G>A	ENST00000403299.1	-	5	1081	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	CARD10_ENST00000494166.1_5'UTR|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000251973.5_Missense_Mutation_p.R289W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	289			R -> Q (in dbSNP:rs9610775). {ECO:0000269|PubMed:11259443, ECO:0000269|PubMed:11356195}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCGTCAGCCGCTGGTTCTCA	0.662																																						uc003asx.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.(865-867)Cgg>Tgg		Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.							38.0	39.0	39.0					22																	37906263		2203	4298	6501	SO:0001583	missense	29775				activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	g.chr22:37906263G>A	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.865C>T	22.37:g.37906263G>A	ENSP00000384570:p.Arg289Trp					CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Missense_Mutation_p.R289W	p.R289W	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN			3	882	-	Melanoma(58;0.0574)		289		R -> Q (in dbSNP:rs9610775).			Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	ENST00000403299.1	37	c.865C>T	CCDS13948.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967334	0.53507	.	.	ENSG00000100065	ENST00000403299;ENST00000251973	T;T	0.35973	1.28;1.28	4.86	2.62	0.31277	.	0.252547	0.31909	N	0.006875	T	0.43456	0.1248	L	0.60455	1.87	0.32159	N	0.583176	D	0.76494	0.999	P	0.54210	0.745	T	0.56189	-0.8020	10	0.62326	D	0.03	-16.9506	9.0652	0.36458	0.0:0.1103:0.519:0.3707	.	289	Q9BWT7	CAR10_HUMAN	W	289	ENSP00000384570:R289W;ENSP00000251973:R289W	ENSP00000251973:R289W	R	-	1	2	CARD10	36236209	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	1.898000	0.39809	1.023000	0.39654	-0.182000	0.12963	CGG		0.662	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550	
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						uc003bdy.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1135-1137)aGa>aAa		Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	p.R379K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN			10	1450	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
EPHA3	2042	broad.mit.edu	37	3	89478302	89478302	+	Silent	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr3:89478302G>A	ENST00000336596.2	+	12	2346	c.2121G>A	c.(2119-2121)ttG>ttA	p.L707L	EPHA3_ENST00000494014.1_Silent_p.L707L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	707	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGTTCCTTGGATAGTTTCC	0.323										TSP Lung(6;0.00050)																												uc003dqy.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(2119-2121)ttG>ttA		Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.							104.0	109.0	107.0					3																	89478302		2203	4299	6502	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89478302G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2121G>A	3.37:g.89478302G>A		TSP Lung(6;0.00050)				EPHA3_uc021xbf.1_Silent_p.L707L	p.L707L	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	11	2346	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	707			Protein kinase.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.2121G>A	CCDS2922.1																																																																																				0.323	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
TBC1D1	23216	broad.mit.edu	37	4	37962337	37962337	+	Intron	SNP	C	C	T	rs557030910		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:37962337C>T	ENST00000261439.4	+	3	772				TBC1D1_ENST00000508802.1_Intron|PTTG2_ENST00000504686.1_Silent_p.T94T	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						AAAAGATGACCGAGAAGACTG	0.403													C|||	1	0.000199681	0.0	0.0	5008	,	,		20601	0.0		0.0	False		,,,				2504	0.001					uc011bye.2																			0				breast(1)|endometrium(1)|lung(4)|skin(1)	7						c.(280-282)acC>acT		Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.							85.0	95.0	91.0					4																	37962337		2203	4299	6502	SO:0001627	intron_variant	10744				chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding	g.chr4:37962337C>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53793C>T	4.37:g.37962337C>T						TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	p.T94T	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN			0	282	+			94					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.282C>T	CCDS33972.1																																																																																				0.403	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173	
SHROOM3	57619	broad.mit.edu	37	4	77661478	77661478	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:77661478C>T	ENST00000296043.6	+	5	3105	c.2152C>T	c.(2152-2154)Cgg>Tgg	p.R718W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	718					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCATCTGGACCGGCAGGTTTC	0.677																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2152-2154)Cgg>Tgg		Homo sapiens shroom family member 3 (SHROOM3), mRNA.							43.0	53.0	49.0					4																	77661478		2170	4255	6425	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661478C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2152C>T	4.37:g.77661478C>T	ENSP00000296043:p.Arg718Trp					SHROOM3_uc011cbz.1_Missense_Mutation_p.R542W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R593W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R496W	p.R718W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	3105	+			718					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.2152C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	13.14	2.147278	0.37923	.	.	ENSG00000138771	ENST00000296043	T	0.34472	1.36	5.65	0.37	0.16160	.	0.388239	0.22949	N	0.053685	T	0.29288	0.0729	M	0.65975	2.015	0.09310	N	0.999999	B;B;B	0.14012	0.003;0.009;0.003	B;B;B	0.08055	0.003;0.003;0.003	T	0.30504	-0.9976	10	0.72032	D	0.01	-18.5867	2.8446	0.05539	0.3785:0.3706:0.1502:0.1007	.	542;718;496	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	W	718	ENSP00000296043:R718W	ENSP00000296043:R718W	R	+	1	2	SHROOM3	77880502	0.049000	0.20398	0.952000	0.39060	0.002000	0.02628	-0.226000	0.09139	0.435000	0.26365	-0.264000	0.10439	CGG		0.677	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
HNRNPDL	9987	broad.mit.edu	37	4	83348672	83348672	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:83348672T>C	ENST00000295470.5	-	4	995	c.820A>G	c.(820-822)Aga>Gga	p.R274G	HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.R155G|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.R274G|HNRNPDL_ENST00000349655.4_Missense_Mutation_p.R155G	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	274	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CAAAATCCTCTTCTTTCATTT	0.333																																						uc003hmr.3																			0				breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(820-822)Aga>Gga		Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.							76.0	74.0	75.0					4																	83348672		2203	4299	6502	SO:0001583	missense	9987				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding	g.chr4:83348672T>C	D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.820A>G	4.37:g.83348672T>C	ENSP00000295470:p.Arg274Gly					HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.R274G	p.R274G	NM_031372	NP_112740	O14979	HNRDL_HUMAN			3	1355	-		Hepatocellular(203;0.114)	274			RRM 2.		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	ENST00000295470.5	37	c.820A>G	CCDS3593.1	.	.	.	.	.	.	.	.	.	.	t	21.1	4.093708	0.76870	.	.	ENSG00000152795	ENST00000295470;ENST00000502762;ENST00000349655	T;T;T	0.77750	-1.12;-1.12;-1.12	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90854	0.7127	M	0.93241	3.395	0.80722	D	1	D;D	0.65815	0.995;0.991	D;D	0.70487	0.969;0.949	D	0.93140	0.6540	10	0.87932	D	0	.	16.1371	0.81494	0.0:0.0:0.0:1.0	.	155;274	O14979-3;O14979	.;HNRDL_HUMAN	G	274;274;155	ENSP00000295470:R274G;ENSP00000422040:R274G;ENSP00000338552:R155G	ENSP00000295470:R274G	R	-	1	2	HNRPDL	83567696	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.034000	0.49751	2.271000	0.75665	0.459000	0.35465	AGA		0.333	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463	
CLGN	1047	broad.mit.edu	37	4	141313760	141313760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:141313760delA	ENST00000325617.5	-	12	1911	c.1471delT	c.(1471-1473)tgtfs	p.C491fs	CLGN_ENST00000537281.1_Frame_Shift_Del_p.C491fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.C491fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	491					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTGGCCAACAAAATGAAGTA	0.348																																						uc011chi.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(1471-1473)tgtfs		Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.							65.0	63.0	64.0					4																	141313760		2203	4300	6503	SO:0001589	frameshift_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141313760delA	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.1471delT	4.37:g.141313760delA	ENSP00000326699:p.Cys491fs					CLGN_uc003iii.3_Frame_Shift_Del_p.C491fs	p.C491fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN			12	1689	-	all_hematologic(180;0.162)		491					B3KS90|B4DXV8|D3DNY8	Frame_Shift_Del	DEL	ENST00000325617.5	37	c.1471delT	CCDS3751.1																																																																																				0.348	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362	
FGG	2266	broad.mit.edu	37	4	155533209	155533209	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:155533209T>C	ENST00000336098.3	-	3	306	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	FGG_ENST00000405164.1_Missense_Mutation_p.I90V|FGG_ENST00000404648.3_Missense_Mutation_p.I90V|FGG_ENST00000407946.1_Missense_Mutation_p.I90V	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	90					blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTGAGTTGGATTGCTTTTATC	0.313																																						uc003ioj.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(268-270)Atc>Gtc		Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	Sucralfate(DB00364)						188.0	172.0	178.0					4																	155533209		2202	4299	6501	SO:0001583	missense	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155533209T>C		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.268A>G	4.37:g.155533209T>C	ENSP00000336829:p.Ile90Val					FGG_uc003iog.3_Missense_Mutation_p.I90V	p.I90V	NM_021870	NP_068656	P02679	FIBG_HUMAN			2	409	-	all_hematologic(180;0.215)	Renal(120;0.0458)	90					A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Missense_Mutation	SNP	ENST00000336098.3	37	c.268A>G	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	6.203	0.405652	0.11754	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946	T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64	6.17	4.98	0.66077	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.268845	0.48286	D	0.000194	T	0.69088	0.3072	M	0.72894	2.215	0.41468	D	0.988082	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.12837	0.004;0.008;0.008;0.004	T	0.64381	-0.6421	10	0.30078	T	0.28	.	13.7951	0.63166	0.0:0.0:0.1278:0.8722	.	90;90;90;90	C9JC84;P02679;C9JEU5;P02679-2	.;FIBG_HUMAN;.;.	V	90	ENSP00000384860:I90V;ENSP00000384101:I90V;ENSP00000336829:I90V;ENSP00000384552:I90V	ENSP00000336829:I90V	I	-	1	0	FGG	155752659	1.000000	0.71417	0.446000	0.26920	0.063000	0.16089	5.252000	0.65445	1.136000	0.42199	-0.313000	0.08912	ATC		0.313	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870	
SPOCK3	50859	broad.mit.edu	37	4	168155201	168155201	+	Nonsense_Mutation	SNP	T	T	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:168155201T>A	ENST00000357154.3	-	2	261	c.124A>T	c.(124-126)Aaa>Taa	p.K42*	SPOCK3_ENST00000512681.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000534949.1_Silent_p.I2I|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000541637.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.K42*|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.K42*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	42					negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AGCCATTGTTTATCATCCAGA	0.597																																						uc011cjq.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(160-162)Aaa>Taa		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							62.0	65.0	64.0					4																	168155201		2203	4300	6503	SO:0001587	stop_gained	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:168155201T>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.124A>T	4.37:g.168155201T>A	ENSP00000349677:p.Lys42*					SPOCK3_uc021xuf.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjs.1_5'UTR|SPOCK3_uc003irj.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Nonsense_Mutation_p.K42*|SPOCK3_uc011cju.1_Silent_p.I2I|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.K42*|SPOCK3_uc003irk.4_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjw.1_Non-coding_Transcript	p.K54*	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	0	217	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	42					B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Nonsense_Mutation	SNP	ENST00000357154.3	37	c.160A>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.833310	0.91036	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000512681;ENST00000511269;ENST00000541637;ENST00000512648;ENST00000510403;ENST00000509854;ENST00000506697;ENST00000512042	.	.	.	4.19	-0.0243	0.13939	.	0.203395	0.31177	N	0.008112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-0.2994	6.6651	0.23037	0.0:0.0803:0.2906:0.6291	.	.	.	.	X	42	.	ENSP00000349677:K42X	K	-	1	0	SPOCK3	168391776	1.000000	0.71417	0.695000	0.30226	0.001000	0.01503	2.240000	0.43088	-0.171000	0.10797	-1.518000	0.00936	AAA		0.597	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
NADK2	133686	broad.mit.edu	37	5	36195277	36195279	+	In_Frame_Del	DEL	TCT	TCT	-	rs561110793		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr5:36195277_36195279delTCT	ENST00000381937.4	-	12	1295_1297	c.1296_1298delAGA	c.(1294-1299)gaagat>gat	p.E432del	NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000514504.1_In_Frame_Del_p.E400del|NADK2_ENST00000282512.3_In_Frame_Del_p.E269del|NADK2_ENST00000397338.1_In_Frame_Del_p.E269del|NADK2_ENST00000506945.1_In_Frame_Del_p.E291del	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	432					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										TCGAAGCTCATCTTCTTTATTGA	0.399																																						uc003jkf.4																			0				NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						c.(1294-1299)gaagat>gat		Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	133686						NAD+ kinase activity	g.chr5:36195277_36195279delTCT	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"""mitochondrial NAD kinase"""	615787	"""chromosome 5 open reading frame 33"", ""NAD kinase domain containing 1"""	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.1296_1298delAGA	5.37:g.36195280_36195282delTCT	ENSP00000371362:p.Glu432del					NADKD1_uc003jke.4_Non-coding_Transcript|NADKD1_uc010iux.3_In_Frame_Del_p.E237del|NADKD1_uc003jkg.4_In_Frame_Del_p.E269del|NADKD1_uc011cov.2_In_Frame_Del_p.E291del	p.E432del	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN			11	1296_1298	-			432					B5MC93|Q6UTX5|Q96NM0	In_Frame_Del	DEL	ENST00000381937.4	37	c.1296_1298delAGA	CCDS47197.1																																																																																				0.399	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013	
ATOX1	475	broad.mit.edu	37	5	151131276	151131276	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr5:151131276T>C	ENST00000524142.1	-	3	428	c.71A>G	c.(70-72)aAt>aGt	p.N24S	ATOX1_ENST00000313115.6_Missense_Mutation_p.N24S|CTB-113P19.3_ENST00000518182.1_RNA|ATOX1_ENST00000521264.1_Missense_Mutation_p.N29S|ATOX1_ENST00000522710.1_Missense_Mutation_p.N24S|ATOX1_ENST00000520382.1_Missense_Mutation_p.N15S|ATOX1_ENST00000522314.1_Missense_Mutation_p.N15S			O00244	ATOX1_HUMAN	antioxidant 1 copper chaperone	24	HMA. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	copper chaperone activity (GO:0016531)|copper ion binding (GO:0005507)|copper-dependent protein binding (GO:0032767)|metallochaperone activity (GO:0016530)						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCCAAGCTTATTGAGGACCCG	0.527																																						uc003luk.3																			0											c.(70-72)aAt>aGt		Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.							52.0	55.0	54.0					5																	151131276		2099	4226	6325	SO:0001583	missense	475				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding	g.chr5:151131276T>C	U70660	CCDS47317.1	5q32	2013-05-01	2013-05-01			ENSG00000177556			798	protein-coding gene	gene with protein product		602270	"""ATX1 (antioxidant protein 1, yeast) homolog 1"", ""ATX1 antioxidant protein 1 homolog (yeast)"""			9083055	Standard	NM_004045		Approved	HAH1	uc003luk.3	O00244		ENST00000524142.1:c.71A>G	5.37:g.151131276T>C	ENSP00000430598:p.Asn24Ser						p.N24S	NM_004045	NP_004036	O00244	ATOX1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		1	169	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	24			HMA.		A8KAJ8|D3DQI2|Q2M1R6|Q56AP3	Missense_Mutation	SNP	ENST00000524142.1	37	c.71A>G	CCDS47317.1	.	.	.	.	.	.	.	.	.	.	T	3.920	-0.018244	0.07681	.	.	ENSG00000177556	ENST00000521264;ENST00000520382;ENST00000522314;ENST00000524142;ENST00000313115;ENST00000522710	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.69	4.52	0.55395	Heavy metal-associated domain, HMA (3);Heavy-metal-associated, conserved site (1);	0.450191	0.23799	N	0.044442	T	0.63827	0.2544	.	.	.	0.33242	D	0.557395	B	0.10296	0.003	B	0.12837	0.008	T	0.58434	-0.7637	9	0.02654	T	1	-31.0456	9.6596	0.39947	0.0:0.0803:0.0:0.9197	.	24	O00244	ATOX1_HUMAN	S	29;15;15;24;24;24	ENSP00000429366:N29S;ENSP00000429982:N15S;ENSP00000430028:N15S;ENSP00000430598:N24S;ENSP00000316854:N24S;ENSP00000429814:N24S	ENSP00000316854:N24S	N	-	2	0	ATOX1	151111469	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	2.250000	0.43178	0.973000	0.38340	0.528000	0.53228	AAT		0.527	ATOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373823.2	NM_004045	
CSNK2B	1460	broad.mit.edu	37	6	31637272	31637272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:31637272C>T	ENST00000375882.2	+	6	700	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	CSNK2B_ENST00000375866.2_Nonsense_Mutation_p.Q182*|LY6G5B_ENST00000409525.1_5'Flank|CSNK2B_ENST00000375865.2_Nonsense_Mutation_p.Q182*|CSNK2B-LY6G5B-1181_ENST00000375880.2_Nonsense_Mutation_p.Q182*|CSNK2B_ENST00000375885.4_Nonsense_Mutation_p.Q201*|LY6G5B_ENST00000375864.4_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	182					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						ACCTGCCAACCAGTTTGTGCC	0.572																																						uc003nvr.1																			0				central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						c.(544-546)Cag>Tag		Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.							101.0	99.0	100.0					6																	31637272		2203	4300	6503	SO:0001587	stop_gained	1460				adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding	g.chr6:31637272C>T	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.544C>T	6.37:g.31637272C>T	ENSP00000365042:p.Gln182*					LY6G5B_uc003nvt.1_5'Flank	p.Q182*	NM_001320	NP_001311	P67870	CSK2B_HUMAN			5	884	+			182					B0UXA9|P07312|P13862|Q4VX47	Nonsense_Mutation	SNP	ENST00000375882.2	37	c.544C>T	CCDS4712.1	.	.	.	.	.	.	.	.	.	.	C	38	6.692780	0.97768	.	.	ENSG00000204435	ENST00000375885;ENST00000375882;ENST00000375880;ENST00000375865;ENST00000375866	.	.	.	5.65	5.65	0.86999	.	0.139601	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-20.287	17.2626	0.87075	0.0:1.0:0.0:0.0	.	.	.	.	X	201;182;182;182;182	.	ENSP00000365025:Q182X	Q	+	1	0	CSNK2B	31745251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.964000	0.76061	2.941000	0.99782	0.655000	0.94253	CAG		0.572	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320	
UNC5CL	222643	broad.mit.edu	37	6	40996200	40996200	+	Missense_Mutation	SNP	T	T	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:40996200T>C	ENST00000373164.1	-	8	1529	c.1469A>G	c.(1468-1470)tAc>tGc	p.Y490C	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000244565.3_Missense_Mutation_p.Y490C			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	490	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCACTCAGGTAGTTCTGGAT	0.667											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003opi.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13						c.(1468-1470)tAc>tGc		Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.							27.0	25.0	26.0					6																	40996200		2181	4256	6437	SO:0001583	missense	222643				signal transduction	cytoplasm|integral to membrane		g.chr6:40996200T>C	BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1469A>G	6.37:g.40996200T>C	ENSP00000362258:p.Tyr490Cys		OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	897		p.Y490C	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN			8	1568	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		490			Death.		Q5TGU1	Missense_Mutation	SNP	ENST00000373164.1	37	c.1469A>G	CCDS4847.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.072746	0.55646	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	D;D	0.85629	-2.01;-2.01	4.53	3.27	0.37495	Death (3);DEATH-like (2);	0.000000	0.38663	N	0.001614	T	0.71829	0.3386	N	0.14661	0.345	0.36039	D	0.839944	D	0.63880	0.993	P	0.57204	0.815	T	0.74731	-0.3566	10	0.42905	T	0.14	-27.5298	6.6729	0.23078	0.2111:0.0:0.0:0.7889	.	490	Q8IV45	UN5CL_HUMAN	C	490	ENSP00000244565:Y490C;ENSP00000362258:Y490C	ENSP00000244565:Y490C	Y	-	2	0	UNC5CL	41104178	1.000000	0.71417	0.997000	0.53966	0.693000	0.40251	1.239000	0.32719	1.682000	0.51000	0.460000	0.39030	TAC		0.667	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1	NM_173561	
TRERF1	55809	broad.mit.edu	37	6	42231242	42231242	+	Missense_Mutation	SNP	G	G	A	rs377404285|rs371824643|rs566959555	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:42231242G>A	ENST00000372922.4	-	8	2262	c.1700C>T	c.(1699-1701)cCg>cTg	p.P567L	TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron|TRERF1_ENST00000541110.1_Missense_Mutation_p.P567L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	567	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P569_P570delPP(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			tggtggcggcggaggcggagg	0.642																																						uc003ose.2																			1	Deletion - In frame(1)	p.P567P(1)|p.P569_P570delPP(1)	large_intestine(1)	breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(1699-1701)cCg>cTg		Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.		G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	41.0	41.0	41.0		1700	1.2	1.0	6		41	0,8600		0,0,4300	no	missense	TRERF1	NM_033502.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	567/1201	42231242	1,13005	2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42231242G>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1700C>T	6.37:g.42231242G>A	ENSP00000362013:p.Pro567Leu					TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.P567L	p.P567L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		7	2263	-	Colorectal(47;0.196)		567			Interacts with CREBBP.|Pro-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.1700C>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.951531	0.53186	2.27E-4	0.0	ENSG00000124496	ENST00000541110;ENST00000372922	D;D	0.85088	-1.94;-1.94	2.16	1.24	0.21308	.	0.404916	0.17792	U	0.161858	T	0.55986	0.1955	N	0.24115	0.695	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.55717	-0.8097	10	0.38643	T	0.18	-3.2339	4.0058	0.09600	0.2215:0.0:0.7785:0.0	.	567;567	Q05GC8;Q96PN7	.;TREF1_HUMAN	L	567	ENSP00000439689:P567L;ENSP00000362013:P567L	ENSP00000362013:P567L	P	-	2	0	TRERF1	42339220	0.993000	0.37304	0.991000	0.47740	0.949000	0.60115	0.101000	0.15251	1.194000	0.43101	0.289000	0.19496	CCG		0.642	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502	
EIF3B	8662	broad.mit.edu	37	7	2412424	2412424	+	Missense_Mutation	SNP	C	C	G			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:2412424C>G	ENST00000360876.4	+	12	1860	c.1804C>G	c.(1804-1806)Ctc>Gtc	p.L602V	EIF3B_ENST00000397011.2_Missense_Mutation_p.L602V	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GAAGATTGAACTCATCAGTAA	0.507																																						uc003slx.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(1804-1806)Ctc>Gtc		Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.							92.0	82.0	85.0					7																	2412424		2203	4300	6503	SO:0001583	missense	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2412424C>G	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1804C>G	7.37:g.2412424C>G	ENSP00000354125:p.Leu602Val					EIF3B_uc003sly.3_Missense_Mutation_p.L602V|EIF3B_uc003sma.3_Missense_Mutation_p.L330V	p.L602V	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	11	1887	+		Ovarian(82;0.0253)	602						Missense_Mutation	SNP	ENST00000360876.4	37	c.1804C>G	CCDS5332.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233142	0.79688	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	T;T	0.05580	3.42;3.42	5.55	5.55	0.83447	Translation initiation factor 2A, beta propellor-like domain (1);Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	M	0.83774	2.66	0.80722	D	1	P	0.52692	0.955	P	0.58660	0.843	T	0.00634	-1.1634	10	0.49607	T	0.09	-35.1027	19.4964	0.95075	0.0:1.0:0.0:0.0	.	602	P55884	EIF3B_HUMAN	V	602;602;602;526	ENSP00000354125:L602V;ENSP00000380206:L602V	ENSP00000316638:L602V	L	+	1	0	EIF3B	2378950	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.903000	0.69877	2.610000	0.88304	0.655000	0.94253	CTC		0.507	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1		
GAL3ST4	79690	broad.mit.edu	37	7	99764391	99764391	+	Missense_Mutation	SNP	A	A	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:99764391A>T	ENST00000360039.4	-	3	555	c.163T>A	c.(163-165)Tcc>Acc	p.S55T	GAL3ST4_ENST00000423751.1_Intron|GPC2_ENST00000471050.1_5'Flank|GAL3ST4_ENST00000426974.2_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S55T|GAL3ST4_ENST00000411994.1_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	55					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCGTAGGGATGGGGCCGAG	0.622																																						uc003utt.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(163-165)Tcc>Acc		Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.							26.0	29.0	28.0					7																	99764391		2196	4296	6492	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99764391A>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.163T>A	7.37:g.99764391A>T	ENSP00000353142:p.Ser55Thr					GAL3ST4_uc022aii.1_Intron|GAL3ST4_uc003utu.3_Missense_Mutation_p.S55T	p.S55T	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			1	1180	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		55					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.163T>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	A	6.393	0.440646	0.12104	.	.	ENSG00000197093	ENST00000413800;ENST00000360039	D;D	0.99762	-6.67;-6.67	5.3	2.56	0.30785	.	0.336648	0.23902	U	0.043438	D	0.97139	0.9065	N	0.05124	-0.11	0.26264	N	0.978522	B	0.13594	0.008	B	0.13407	0.009	D	0.96069	0.9044	10	0.12103	T	0.63	-7.4535	4.8154	0.13363	0.6056:0.0:0.0874:0.307	.	55	Q96RP7	G3ST4_HUMAN	T	55	ENSP00000400451:S55T;ENSP00000353142:S55T	ENSP00000353142:S55T	S	-	1	0	GAL3ST4	99602327	0.991000	0.36638	0.518000	0.27811	0.059000	0.15707	2.028000	0.41088	0.848000	0.35191	0.379000	0.24179	TCC		0.622	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637	
DOCK4	9732	broad.mit.edu	37	7	111540437	111540437	+	Missense_Mutation	SNP	A	A	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:111540437A>C	ENST00000437633.1	-	15	1729	c.1473T>G	c.(1471-1473)caT>caG	p.H491Q	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.H491Q	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	491	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACTGGAACAATGCCGAAACT	0.473																																						uc003vfy.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72						c.(1471-1473)caT>caG		Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.							67.0	66.0	66.0					7																	111540437		2025	4187	6212	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111540437A>C		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1473T>G	7.37:g.111540437A>C	ENSP00000404179:p.His491Gln					DOCK4_uc003vfx.3_Missense_Mutation_p.H491Q|DOCK4_uc003vga.1_Missense_Mutation_p.H96Q	p.H491Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			14	1742	-		Acute lymphoblastic leukemia(1;0.0441)	491			DHR-1.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1473T>G	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.5|20.5	3.995738|3.995738	0.74703|0.74703	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.17854|.	2.25;2.25|.	6.04|6.04	1.2|1.2	0.21068|0.21068	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74951|0.74951	0.3784|0.3784	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	T|T	0.74112|0.74112	-0.3770|-0.3770	10|5	0.87932|.	D|.	0|.	.|.	8.845|8.845	0.35164|0.35164	0.5897:0.0:0.4103:0.0|0.5897:0.0:0.4103:0.0	.|.	491;491|.	Q149N2;Q8N1I0|.	.;DOCK4_HUMAN|.	Q|S	479;491;491;479;490|479	ENSP00000410746:H491Q;ENSP00000404179:H491Q|.	ENSP00000345432:H479Q|.	H|I	-|-	3|2	2|0	DOCK4|DOCK4	111327673|111327673	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	1.281000|1.281000	0.33214|0.33214	0.187000|0.187000	0.20147|0.20147	-0.371000|-0.371000	0.07208|0.07208	CAT|ATT		0.473	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
DLGAP2	9228	broad.mit.edu	37	8	1581155	1581155	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:1581155G>A	ENST00000421627.2	+	5	1647	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	584					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)		p.E527K(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAGATGACGAATGTATTCC	0.547																																						uc003wpl.3																			1	Substitution - Missense(1)	p.E527K(1)	large_intestine(1)	breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1513-1515)Gaa>Aaa		Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.							113.0	116.0	115.0					8																	1581155		2137	4245	6382	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1581155G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1513G>A	8.37:g.1581155G>A	ENSP00000400258:p.Glu505Lys					DLGAP2_uc003wpm.3_Missense_Mutation_p.E505K	p.E505K	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	4	1610	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	584					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.1513G>A	CCDS47760.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078947	0.94050	.	.	ENSG00000198010	ENST00000356067;ENST00000421627	T	0.22945	1.93	5.06	5.06	0.68205	.	0.047705	0.85682	D	0.000000	T	0.35219	0.0924	M	0.71581	2.175	0.49798	D	0.999822	D;P	0.54397	0.966;0.943	B;B	0.43018	0.405;0.229	T	0.42732	-0.9434	10	0.87932	D	0	-11.4958	18.7837	0.91946	0.0:0.0:1.0:0.0	.	584;584	Q9P1A6-2;Q9P1A6	.;DLGP2_HUMAN	K	550;505	ENSP00000400258:E505K	ENSP00000348366:E550K	E	+	1	0	DLGAP2	1568562	1.000000	0.71417	0.791000	0.31998	0.818000	0.46254	9.263000	0.95617	2.475000	0.83589	0.555000	0.69702	GAA		0.547	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
NUDCD1	84955	broad.mit.edu	37	8	110308796	110308796	+	Missense_Mutation	SNP	G	G	C			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:110308796G>C	ENST00000239690.4	-	3	650	c.276C>G	c.(274-276)gaC>gaG	p.D92E	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D63E|RP11-122A21.2_ENST00000504175.2_RNA	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CTAAGGCAGTGTCCTAAAAAG	0.403																																						uc003ynb.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25						c.(274-276)gaC>gaG		Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.							94.0	85.0	88.0					8																	110308796		2203	4300	6503	SO:0001583	missense	84955							g.chr8:110308796G>C	AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.276C>G	8.37:g.110308796G>C	ENSP00000239690:p.Asp92Glu					NUDCD1_uc003yna.3_Missense_Mutation_p.D63E|NUDCD1_uc010mcl.3_Missense_Mutation_p.D5E|NUDCD1_uc010mcm.1_Missense_Mutation_p.D5E	p.D92E	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)		2	387	-	all_neural(195;0.219)		92						Missense_Mutation	SNP	ENST00000239690.4	37	c.276C>G	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453566	0.26161	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.18174	2.23;2.25	5.84	-2.36	0.06663	.	0.000000	0.85682	D	0.000000	T	0.12092	0.0294	L	0.43923	1.385	0.40327	D	0.978888	B;B;B	0.21309	0.054;0.002;0.005	B;B;B	0.24269	0.052;0.004;0.004	T	0.30736	-0.9968	10	0.11794	T	0.64	-8.7778	12.1704	0.54155	0.6072:0.0:0.3928:0.0	.	5;92;63	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	E	92;63	ENSP00000239690:D92E;ENSP00000410707:D63E	ENSP00000239690:D92E	D	-	3	2	NUDCD1	110377972	0.990000	0.36364	0.955000	0.39395	0.981000	0.71138	0.146000	0.16180	-0.576000	0.05974	-0.229000	0.12294	GAC		0.403	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869	
IDNK	414328	broad.mit.edu	37	9	86258531	86258531	+	Missense_Mutation	SNP	C	C	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr9:86258531C>T	ENST00000376419.4	+	5	404	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	IDNK_ENST00000376417.4_3'UTR|IDNK_ENST00000454393.1_Missense_Mutation_p.R177C|IDNK_ENST00000277124.8_Missense_Mutation_p.R88C|IDNK_ENST00000405990.3_3'UTR	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	134					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)										CATCTCTGGACGCTTACTCAA	0.507																																						uc004amu.2																			0											c.(400-402)Cgc>Tgc		Homo sapiens chromosome 9 open reading frame 103 (C9orf103), transcript variant 1, mRNA.							85.0	84.0	84.0					9																	86258531		2203	4300	6503	SO:0001583	missense	414328				carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity	g.chr9:86258531C>T	BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"""chromosome 9 open reading frame 103"""	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.400C>T	9.37:g.86258531C>T	ENSP00000365601:p.Arg134Cys					IDNK_uc004amt.2_Non-coding_Transcript|IDNK_uc010mpv.2_3'UTR	p.R134C	NM_001001551	NP_001001551	Q5T6J7	GNTK_HUMAN			4	454	+			134					A5PLN6|Q5T6J6	Missense_Mutation	SNP	ENST00000376419.4	37	c.400C>T	CCDS35048.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032992	0.75504	.	.	ENSG00000148057	ENST00000277124;ENST00000530832;ENST00000376419;ENST00000454393	T;T;T;T	0.66280	-0.2;1.51;-0.2;-0.2	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.86826	0.6026	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91300	0.5066	10	0.87932	D	0	-13.5258	14.0171	0.64531	0.1512:0.8488:0.0:0.0	.	134	Q5T6J7	GNTK_HUMAN	C	88;88;134;177	ENSP00000277124:R88C;ENSP00000436381:R88C;ENSP00000365601:R134C;ENSP00000403290:R177C	ENSP00000277124:R88C	R	+	1	0	C9orf103	85448351	0.988000	0.35896	1.000000	0.80357	0.921000	0.55340	2.621000	0.46418	2.531000	0.85337	0.650000	0.86243	CGC		0.507	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	NM_001001551	
TMEM245	23731	broad.mit.edu	37	9	111822726	111822726	+	Nonsense_Mutation	SNP	T	T	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr9:111822726T>A	ENST00000374586.3	-	11	1661	c.1630A>T	c.(1630-1632)Aaa>Taa	p.K544*		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	544						integral component of membrane (GO:0016021)											CCTAGAATTTTATGGAGCTAG	0.343																																						uc004bdt.4																			0											c.(1630-1632)Aaa>Taa		Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.							101.0	101.0	101.0					9																	111822726		1822	4080	5902	SO:0001587	stop_gained	23731					integral to membrane		g.chr9:111822726T>A	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1630A>T	9.37:g.111822726T>A	ENSP00000363714:p.Lys544*					TMEM245_uc022bln.1_Nonsense_Mutation_p.K96*|TMEM245_uc004bds.4_Non-coding_Transcript	p.K544*	NM_032012	NP_114401	Q9H330	CI005_HUMAN			10	1662	-			544					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Nonsense_Mutation	SNP	ENST00000374586.3	37	c.1630A>T	CCDS43858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	39|39	7.762989|7.762989	0.98477|0.98477	.|.	.|.	ENSG00000106771|ENSG00000106771	ENST00000374586;ENST00000223608|ENST00000413712	.|.	.|.	.|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.02654|.	T|.	1|.	-13.6208|-13.6208	16.5932|16.5932	0.84781|0.84781	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	544|136	.|.	ENSP00000223608:K544X|.	K|X	-|-	1|2	0|2	C9orf5|C9orf5	110862547|110862547	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.812000|7.812000	0.86109|0.86109	2.320000|2.320000	0.78422|0.78422	0.528000|0.528000	0.53228|0.53228	AAA|TAA		0.343	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012	
CXorf22	170063	broad.mit.edu	37	X	35985796	35985796	+	Missense_Mutation	SNP	G	G	A			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:35985796G>A	ENST00000297866.5	+	10	1727	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	554										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGGCAAAACGCAAGAATTAT	0.393																																						uc004ddj.3																			0		p.R554R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.(1660-1662)cGc>cAc		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							123.0	102.0	109.0					X																	35985796		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35985796G>A	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1661G>A	X.37:g.35985796G>A	ENSP00000297866:p.Arg554His					CXorf22_uc010ngv.3_Non-coding_Transcript	p.R554H	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			9	1727	+			554					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.1661G>A	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	5.799	0.331683	0.10956	.	.	ENSG00000165164	ENST00000297866	T	0.14266	2.52	5.08	-1.9	0.07665	.	1.146510	0.06263	N	0.694209	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.41840	-0.9486	10	0.15952	T	0.53	-28.5459	5.5554	0.17113	0.5062:0.1417:0.3521:0.0	.	554	Q6ZTR5	CX022_HUMAN	H	554	ENSP00000297866:R554H	ENSP00000297866:R554H	R	+	2	0	CXorf22	35895717	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.115000	0.10741	-0.855000	0.04125	-1.137000	0.01932	CGC		0.393	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
SSX8	280659	broad.mit.edu	37	X	52654550	52654550	+	IGR	SNP	A	A	T			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:52654550A>T								XAGE1E (108353 upstream) : SSX7 (18589 downstream)																							TTTTTTTTTTAGGCCTTCAAT	0.413																																						uc011moa.1																			0											c.e3-2		Homo sapiens synovial sarcoma, X breakpoint 8 (SSX8), non-coding RNA.							77.0	51.0	59.0					X																	52654550		692	1590	2282	SO:0001628	intergenic_variant	280659							g.chrX:52654550A>T																													X.37:g.52654550A>T						SSX8_uc011mob.1_Splice_Site								3		+									Splice_Site	SNP		37	c.354_splice																																																																																				0	0.413								
PCDH19	57526	broad.mit.edu	37	X	99662130	99662131	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:99662130_99662131delGA	ENST00000373034.4	-	1	3140_3141	c.1465_1466delTC	c.(1465-1467)tccfs	p.S489fs	PCDH19_ENST00000420881.2_Frame_Shift_Del_p.S489fs|PCDH19_ENST00000255531.7_Frame_Shift_Del_p.S489fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	489	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GATCTGGTAGGAGACACTGCCG	0.584																																						uc010nmz.3																			0				breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						c.(1465-1467)tccfs		Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.																																				SO:0001589	frameshift_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662130_99662131delGA	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1465_1466delTC	X.37:g.99662132_99662133delGA	ENSP00000362125:p.Ser489fs					PCDH19_uc004efw.4_Frame_Shift_Del_p.S489fs|PCDH19_uc004efx.4_Frame_Shift_Del_p.S489fs	p.S489fs	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN			0	3141_3142	-			489			Cadherin 5.		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Del	DEL	ENST00000373034.4	37	c.1465_1466delTC	CCDS55462.1																																																																																				0.584	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
