#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SLC30A8	169026	broad.mit.edu	37	8	118175681	118175681	+	Silent	SNP	C	C	T	rs185179876	byFrequency	TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr8:118175681C>T	ENST00000456015.2	+	6	741	c.741C>T	c.(739-741)gcC>gcT	p.A247A	SLC30A8_ENST00000521243.1_Silent_p.A198A|SLC30A8_ENST00000519688.1_Silent_p.A198A|RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000427715.2_Silent_p.A198A	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	247					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			ATAAAATAGCCGACCCAATCT	0.383													C|||	2	0.000399361	0.0	0.0014	5008	,	,		17620	0.0		0.001	False		,,,				2504	0.0				Ovarian(162;1202 1922 6011 16223 52092)	ENST00000427715.2																			0				breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41						c.(592-594)gcC>gcT		solute carrier family 30 (zinc transporter), member 8		C	,,,,	0,4406		0,0,2203	136.0	137.0	137.0		594,594,594,594,741	-9.9	0.9	8		137	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC30A8	NM_001172811.1,NM_001172813.1,NM_001172814.1,NM_001172815.1,NM_173851.2	,,,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,,,	198/321,198/321,198/321,198/321,247/370	118175681	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118175681C>T		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.741C>T	8.37:g.118175681C>T						SLC30A8_ENST00000521243.1_Silent_p.A198A|SLC30A8_ENST00000456015.2_Silent_p.A247A|SLC30A8_ENST00000519688.1_Silent_p.A198A	p.A198A	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		9	1028	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		247					A0AVP9|A5YM39|B4DPE0|Q8TCL3	Silent	SNP	ENST00000456015.2	37	c.594C>T	CCDS6322.1																																																																																				0.383	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		5	44	0	0	0	1	0	5	44				
LRRIQ1	84125	broad.mit.edu	37	12	85521642	85521642	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr12:85521642G>A	ENST00000393217.2	+	18	4101	c.4040G>A	c.(4039-4041)cGt>cAt	p.R1347H		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1347	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCATACTGGCGTGGTTACCTC	0.388																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(4039-4041)cGt>cAt		leucine-rich repeats and IQ motif containing 1							92.0	95.0	94.0					12																	85521642		1856	4105	5961	SO:0001583	missense	84125							g.chr12:85521642G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4040G>A	12.37:g.85521642G>A	ENSP00000376910:p.Arg1347His						p.R1347H	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	18	4101	+			1347			IQ 2.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4040G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.941944	0.73557	.	.	ENSG00000133640	ENST00000393217	T	0.77098	-1.07	5.21	4.3	0.51218	.	1.557830	0.06912	U	0.807812	T	0.82051	0.4953	N	0.19112	0.55	0.30989	N	0.721656	D	0.89917	1.0	D	0.81914	0.995	T	0.76940	-0.2773	10	0.87932	D	0	.	14.6719	0.68951	0.0741:0.0:0.9259:0.0	.	1347	Q96JM4	LRIQ1_HUMAN	H	1347	ENSP00000376910:R1347H	ENSP00000376910:R1347H	R	+	2	0	LRRIQ1	84045773	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	5.362000	0.66098	2.588000	0.87417	0.591000	0.81541	CGT		0.388	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		6	82	0	0	0	1	0	6	82				
RASA4B	100271927	broad.mit.edu	37	7	102136604	102136604	+	Missense_Mutation	SNP	C	C	T	rs746316	byFrequency	TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr7:102136604C>T	ENST00000465829.1	-	11	1124	c.1054G>A	c.(1054-1056)Gtg>Atg	p.V352M	RP11-514P8.8_ENST00000481893.1_RNA|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M			C9J798	RAS4B_HUMAN	RAS p21 protein activator 4B	352	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)	p.V352M(1)		skin(1)	1						AAAGACTCCACGGACTTTGAG	0.542																																						ENST00000481893.1																			1	Substitution - Missense(1)	p.V352M(1)	kidney(1)	skin(1)	1						c.(838-840)Gtg>Atg		RAS p21 protein activator 4B																																				SO:0001583	missense	100271927							g.chr7:102136604C>T		CCDS59506.1	7q22.1	2013-01-10			ENSG00000170667	ENSG00000170667		"""Pleckstrin homology (PH) domain containing"""	35202	protein-coding gene	gene with protein product							Standard	NM_001277335		Approved		uc003uzu.2	C9J798	OTTHUMG00000022944	ENST00000465829.1:c.1054G>A	7.37:g.102136604C>T	ENSP00000417895:p.Val352Met					RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M|RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M	p.V280M							16	1962	-									Missense_Mutation	SNP	ENST00000465829.1	37	c.838G>A		.	.	.	.	.	.	.	.	.	.	.	0.013	-1.627428	0.00813	.	.	ENSG00000170667	ENST00000541662;ENST00000465829;ENST00000481893;ENST00000306682	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.05	4.05	0.47172	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	N	0.000000	T	0.39989	0.1099	N	0.00538	-1.39	0.20873	N	0.999832	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.004;0.003;0.0	T	0.42292	-0.9460	10	0.02654	T	1	.	8.9242	0.35630	0.0:0.0917:0.0:0.9083	rs746316;rs11547192	280;352;352	F8W6L0;F5GXT2;C9J798	.;.;RAS4B_HUMAN	M	352;352;280;280	ENSP00000440982:V352M;ENSP00000417895:V352M;ENSP00000419967:V280M;ENSP00000303968:V280M	ENSP00000303968:V280M	V	-	1	0	RASA4B	101923609	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	4.925000	0.63425	0.541000	0.28827	-0.556000	0.04195	GTG		0.542	RASA4B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000059600.6	XM_003118600		4	53	0	0	0	1	0	4	53				
MSH2	4436	broad.mit.edu	37	2	47637343	47637343	+	Silent	SNP	A	A	G			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr2:47637343A>G	ENST00000233146.2	+	3	700	c.477A>G	c.(475-477)agA>agG	p.R159R	MSH2_ENST00000406134.1_Silent_p.R159R|MSH2_ENST00000543555.1_Silent_p.R93R	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	159					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGGCCAGAGACAGGTTGGAG	0.443			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(475-477)agA>agG	Mismatch excision repair (MMR)	mutS homolog 2							328.0	315.0	319.0					2																	47637343		2203	4300	6503	SO:0001819	synonymous_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47637343A>G	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.477A>G	2.37:g.47637343A>G						MSH2_ENST00000543555.1_Silent_p.R93R|MSH2_ENST00000233146.2_Silent_p.R159R	p.R159R			P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	539	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	159					B4E2Z2|O75488	Silent	SNP	ENST00000233146.2	37	c.477A>G	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	A	9.442	1.088252	0.20390	.	.	ENSG00000095002	ENST00000413880	.	.	.	5.73	-0.672	0.11377	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9813	0.53121	0.5343:0.0:0.4657:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MSH2	47490847	0.096000	0.21769	0.997000	0.53966	0.813000	0.45954	-0.361000	0.07612	-0.109000	0.12044	-0.982000	0.02568	.		0.443	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			16	155	0	0	0	1	0	16	155				
ZNF727	442319	broad.mit.edu	37	7	63529386	63529386	+	Missense_Mutation	SNP	T	T	G			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr7:63529386T>G	ENST00000550760.3	+	2	300	c.121T>G	c.(121-123)Ttc>Gtc	p.F41V	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	41	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F41V(1)		endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CGGAAACCTGTTCTCCTTGGG	0.383																																						ENST00000550760.3																			1	Substitution - Missense(1)	p.F41V(1)	endometrium(1)	endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						c.(121-123)Ttc>Gtc		zinc finger protein 727							97.0	87.0	90.0					7																	63529386		692	1591	2283	SO:0001583	missense	442319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63529386T>G			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.121T>G	7.37:g.63529386T>G	ENSP00000447987:p.Phe41Val					RP11-3N2.13_ENST00000445978.1_RNA	p.F41V	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN			2	300	+			41			KRAB.			Missense_Mutation	SNP	ENST00000550760.3	37	c.121T>G	CCDS55113.1	.	.	.	.	.	.	.	.	.	.	T	0.370	-0.934798	0.02340	.	.	ENSG00000257482	ENST00000550760	T	0.01287	5.05	0.149	-0.298	0.12814	Krueppel-associated box (4);	.	.	.	.	T	0.00300	0.0009	N	0.00040	-2.495	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42548	-0.9445	8	.	.	.	.	1.4234	0.02317	0.3213:0.0:0.3267:0.3519	.	41	A8MUV8	ZN727_HUMAN	V	41	ENSP00000447987:F41V	.	F	+	1	0	ZNF727	63166821	0.000000	0.05858	0.026000	0.17262	0.026000	0.11368	-1.012000	0.03649	-1.244000	0.02516	-1.266000	0.01441	TTC		0.383	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001159522		3	10	0	0	0	1	0	3	10				
BCRP7	100133163	broad.mit.edu	37	22	18846004	18846004	+	3'UTR	SNP	C	C	T			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr22:18846004C>T	ENST00000412938.1	+	0	3362																											CTGCGCAGGCCGACACTCACT	0.612																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846004C>T																												ENST00000412938.1:c.*3359C>T	22.37:g.18846004C>T														0	3362	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.612	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	28	0	0	0	1	0	4	28				
FANK1	92565	broad.mit.edu	37	10	127585218	127585218	+	Missense_Mutation	SNP	C	C	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr10:127585218C>A	ENST00000368693.1	+	1	111	c.7C>A	c.(7-9)Ccc>Acc	p.P3T	FANK1_ENST00000449042.2_5'UTR|FANK1_ENST00000368695.1_5'UTR			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	3						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GACCATGGAGCCCCAGAGTAA	0.761																																						ENST00000368693.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21						c.(7-9)Ccc>Acc		fibronectin type III and ankyrin repeat domains 1							9.0	12.0	11.0					10																	127585218		2171	4258	6429	SO:0001583	missense	92565					cytoplasm|nucleus		g.chr10:127585218C>A	BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.7C>A	10.37:g.127585218C>A	ENSP00000357682:p.Pro3Thr					FANK1_ENST00000368695.1_5'UTR|FANK1_ENST00000449042.2_5'UTR	p.P3T			Q8TC84	FANK1_HUMAN			1	111	+		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)	3					Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	c.7C>A	CCDS31309.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288816	0.23478	.	.	ENSG00000203780	ENST00000368693	T	0.43688	0.94	2.62	2.62	0.31277	.	.	.	.	.	T	0.25195	0.0612	N	0.22421	0.69	0.80722	D	1	B;B	0.12013	0.003;0.005	B;B	0.12837	0.007;0.008	T	0.05835	-1.0861	9	0.18276	T	0.48	.	8.8836	0.35389	0.0:1.0:0.0:0.0	.	3;3	Q8TC84-3;Q8TC84	.;FANK1_HUMAN	T	3	ENSP00000357682:P3T	ENSP00000357682:P3T	P	+	1	0	FANK1	127575208	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	2.904000	0.48719	1.756000	0.51951	0.462000	0.41574	CCC		0.761	FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235		3	14	1	0	0.115264	1	0.117884	3	14				
ANKRD20A5P	440482	broad.mit.edu	37	18	14179412	14179412	+	RNA	SNP	A	A	G	rs200431864	byFrequency	TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr18:14179412A>G	ENST00000581935.1	+	0	317							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						GTTCGGCTTCAGGAGCCGCAG	0.607																																						ENST00000581935.1																			0				lung(3)	3																																														0							g.chr18:14179412A>G	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14179412A>G														0	317	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.607	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			4	9	0	0	0	1	0	4	9				
PCDHB7	56129	broad.mit.edu	37	5	140554081	140554081	+	Missense_Mutation	SNP	C	C	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr5:140554081C>A	ENST00000231137.3	+	1	1839	c.1665C>A	c.(1663-1665)aaC>aaA	p.N555K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	555	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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGCCAACGACAACTCGC	0.726																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1663-1665)aaC>aaA									28.0	32.0	31.0					5																	140554081		2192	4283	6475	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554081C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1665C>A	5.37:g.140554081C>A	ENSP00000231137:p.Asn555Lys						p.N555K	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1839	+			555			Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1665C>A	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.05|17.05	3.291169|3.291169	0.59976|0.59976	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000231137|ENST00000543636	T|.	0.01745|.	4.66|.	4.3|4.3	0.795|0.795	0.18643|0.18643	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.85579|0.85579	0.5729|0.5729	H|H	0.98833|0.98833	4.345|4.345	0.38258|0.38258	D|D	0.941809|0.941809	D|.	0.89917|.	1.0|.	D|.	0.76575|.	0.988|.	D|D	0.83921|0.83921	0.0301|0.0301	9|5	0.87932|.	D|.	0|.	.|.	5.9973|5.9973	0.19501|0.19501	0.0:0.3365:0.0:0.6635|0.0:0.3365:0.0:0.6635	.|.	555|.	Q9Y5E2|.	PCDB7_HUMAN|.	K|K	555|338	ENSP00000231137:N555K|.	ENSP00000231137:N555K|.	N|T	+|+	3|2	2|0	PCDHB7|PCDHB7	140534265|140534265	0.000000|0.000000	0.05858|0.05858	0.992000|0.992000	0.48379|0.48379	0.966000|0.966000	0.64601|0.64601	-2.009000|-2.009000	0.01455|0.01455	0.355000|0.355000	0.24131|0.24131	0.449000|0.449000	0.29647|0.29647	AAC|ACG		0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		9	49	1	0	0.00621372	1	0.00681993	9	49				
COL19A1	1310	broad.mit.edu	37	6	70639450	70639450	+	Missense_Mutation	SNP	G	G	C			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr6:70639450G>C	ENST00000322773.4	+	6	626	c.524G>C	c.(523-525)gGc>gCc	p.G175A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	175	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACAAACTTGGCATTAGTATA	0.408																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(523-525)gGc>gCc		collagen, type XIX, alpha 1							125.0	119.0	121.0					6																	70639450		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70639450G>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.524G>C	6.37:g.70639450G>C	ENSP00000316030:p.Gly175Ala						p.G175A	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			6	626	+			175			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.524G>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109695	0.37242	.	.	ENSG00000082293	ENST00000322773	T	0.01538	4.79	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.01627	0.0052	L	0.31752	0.955	0.80722	D	1	D	0.67145	0.996	P	0.57283	0.817	T	0.56998	-0.7886	10	0.05525	T	0.97	.	19.4456	0.94845	0.0:0.0:1.0:0.0	.	175	Q14993	COJA1_HUMAN	A	175	ENSP00000316030:G175A	ENSP00000316030:G175A	G	+	2	0	COL19A1	70696171	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.345000	0.79337	2.592000	0.87571	0.467000	0.42956	GGC		0.408	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			7	55	0	0	0	1	0	7	55				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	30	1	0	0.00909568	1	0.00974537	4	30				
DIDO1	11083	broad.mit.edu	37	20	61513251	61513251	+	Missense_Mutation	SNP	C	C	T			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr20:61513251C>T	ENST00000266070.4	-	16	4382	c.4057G>A	c.(4057-4059)Ggg>Agg	p.G1353R	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1353					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGGCACCCCGTCCTCTGCT	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4057-4059)Ggg>Agg		death inducer-obliterator 1							91.0	107.0	101.0					20																	61513251		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513251C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4057G>A	20.37:g.61513251C>T	ENSP00000266070:p.Gly1353Arg					DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353R	p.G1353R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	4382	-	Breast(26;5.68e-08)		1353					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4057G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637238	0.47049	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09073	3.02;3.02	5.4	3.04	0.35103	.	0.790616	0.10541	N	0.662729	T	0.11196	0.0273	M	0.75447	2.3	0.09310	N	0.999999	B	0.33841	0.428	B	0.24541	0.054	T	0.15093	-1.0449	10	0.62326	D	0.03	-24.5856	9.0535	0.36392	0.0:0.7258:0.0:0.2742	.	1353	Q9BTC0	DIDO1_HUMAN	R	1353	ENSP00000266070:G1353R;ENSP00000378752:G1353R	ENSP00000266070:G1353R	G	-	1	0	DIDO1	60983696	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	1.432000	0.34936	0.516000	0.28340	0.563000	0.77884	GGG		0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	83	0	0	0	1	0	7	83				
PCDH20	64881	broad.mit.edu	37	13	61986869	61986869	+	Missense_Mutation	SNP	T	T	C			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr13:61986869T>C	ENST00000409186.1	-	5	3468	c.1363A>G	c.(1363-1365)Acc>Gcc	p.T455A	PCDH20_ENST00000409204.4_Missense_Mutation_p.T455A			Q8N6Y1	PCD20_HUMAN	protocadherin 20	455	Cadherin 3. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		TCTCTTATGGTGAAAAACGCA	0.413																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1363-1365)Acc>Gcc		protocadherin 20							102.0	103.0	102.0					13																	61986869		2203	4300	6503	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986869T>C	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1363A>G	13.37:g.61986869T>C	ENSP00000386653:p.Thr455Ala					PCDH20_ENST00000409204.4_Missense_Mutation_p.T455A	p.T455A			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3468	-		Breast(118;0.195)|Prostate(109;0.229)	428			Cadherin 3.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.1363A>G	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	T	18.32	3.599171	0.66332	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.61859	0.07;0.07	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000004	T	0.69115	0.3075	M	0.82716	2.605	0.80722	D	1	P	0.52170	0.951	P	0.48552	0.581	T	0.75800	-0.3190	10	0.72032	D	0.01	.	16.0816	0.81007	0.0:0.0:0.0:1.0	.	455	A8K1K9	.	A	455;455;201	ENSP00000387250:T455A;ENSP00000386653:T455A	ENSP00000351500:T201A	T	-	1	0	PCDH20	60884870	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.948000	0.87774	2.266000	0.75297	0.528000	0.53228	ACC		0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		10	93	0	0	0	1	0	10	93				
FYCO1	79443	broad.mit.edu	37	3	46009701	46009701	+	Silent	SNP	A	A	G			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr3:46009701A>G	ENST00000296137.2	-	8	1330	c.1125T>C	c.(1123-1125)gcT>gcC	p.A375A	FYCO1_ENST00000535325.1_Silent_p.A375A	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	375					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCTTCTGCTGAGCCATGGCTA	0.577																																						ENST00000296137.2																			0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(1123-1125)gcT>gcC		FYVE and coiled-coil domain containing 1							116.0	120.0	119.0					3																	46009701		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46009701A>G	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1125T>C	3.37:g.46009701A>G						FYCO1_ENST00000535325.1_Silent_p.A375A	p.A375A	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	1330	-			375					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.1125T>C	CCDS2734.1																																																																																				0.577	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		5	115	0	0	0	1	0	5	115				
EHBP1	23301	broad.mit.edu	37	2	63175612	63175612	+	Missense_Mutation	SNP	T	T	C			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr2:63175612T>C	ENST00000263991.5	+	14	2218	c.1736T>C	c.(1735-1737)gTt>gCt	p.V579A	EHBP1_ENST00000354487.3_Missense_Mutation_p.V544A|EHBP1_ENST00000405289.1_Missense_Mutation_p.V544A|EHBP1_ENST00000431489.1_Missense_Mutation_p.V544A|EHBP1_ENST00000405015.3_Missense_Mutation_p.V544A	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	579						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AACAGTTCTGTTGATCAAGAA	0.403																																						ENST00000263991.5																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(1735-1737)gTt>gCt		EH domain binding protein 1							67.0	67.0	67.0					2																	63175612		2203	4300	6503	SO:0001583	missense	23301					cytoplasm|membrane		g.chr2:63175612T>C	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.1736T>C	2.37:g.63175612T>C	ENSP00000263991:p.Val579Ala					EHBP1_ENST00000405289.1_Missense_Mutation_p.V544A|EHBP1_ENST00000354487.3_Missense_Mutation_p.V544A|EHBP1_ENST00000405015.3_Missense_Mutation_p.V544A|EHBP1_ENST00000431489.1_Missense_Mutation_p.V544A	p.V579A	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		14	2218	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		579					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Missense_Mutation	SNP	ENST00000263991.5	37	c.1736T>C	CCDS1872.1	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648157	0.47258	.	.	ENSG00000115504	ENST00000405015;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T	0.74947	-0.89;-0.89;-0.86;-0.88;-0.88	5.73	5.73	0.89815	.	0.144254	0.44285	D	0.000463	T	0.58878	0.2153	N	0.08118	0	0.46149	D	0.99889	P;P;B	0.37663	0.566;0.604;0.431	B;B;B	0.40285	0.325;0.183;0.174	T	0.59710	-0.7403	10	0.18276	T	0.48	.	16.0152	0.80434	0.0:0.0:0.0:1.0	.	544;544;579	Q8NDI1-2;Q8NDI1-3;Q8NDI1	.;.;EHBP1_HUMAN	A	544;544;579;544;544	ENSP00000384143:V544A;ENSP00000403783:V544A;ENSP00000263991:V579A;ENSP00000346482:V544A;ENSP00000385524:V544A	ENSP00000263991:V579A	V	+	2	0	EHBP1	63029116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.586000	0.82596	2.180000	0.69256	0.533000	0.62120	GTT		0.403	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		5	54	0	0	0	1	0	5	54				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	94	0	0	0	1	0	5	94				
ARAF	369	broad.mit.edu	37	X	47428273	47428273	+	Silent	SNP	G	G	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chrX:47428273G>A	ENST00000377045.4	+	11	1427	c.1233G>A	c.(1231-1233)cgG>cgA	p.R411R		NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	ACGTGGCCCGGCAGACTGCCC	0.637											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377045.4																			0				biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1231-1233)cgG>cgA		v-raf murine sarcoma 3611 viral oncogene homolog	Adenosine triphosphate(DB00171)						34.0	26.0	29.0					X																	47428273		2203	4300	6503	SO:0001819	synonymous_variant	369				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chrX:47428273G>A	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1233G>A	X.37:g.47428273G>A			OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	946		p.R411R	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN			11	1427	+			411			Protein kinase.		P07557|Q5H9B2|Q5H9B3	Silent	SNP	ENST00000377045.4	37	c.1233G>A	CCDS35232.1																																																																																				0.637	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1			2	1	0	0	0	1	0	2	1				
AQR	9716	broad.mit.edu	37	15	35189761	35189761	+	Splice_Site	SNP	G	G	A	rs201758262		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr15:35189761G>A	ENST00000156471.5	-	21	2614	c.2389C>T	c.(2389-2391)Cgt>Tgt	p.R797C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	797					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TAAAATTACCGTTTGGGTTGA	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		19399	0.0		0.001	False		,,,				2504	0.0					ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.e21+1		aquarius intron-binding spliceosomal factor							76.0	73.0	74.0					15																	35189761		1806	4066	5872	SO:0001630	splice_region_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35189761G>A	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2390+1C>T	15.37:g.35189761G>A							p.R797_splice	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	21	2614	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	797					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Splice_Site	SNP	ENST00000156471.5	37	c.2390_splice	CCDS42013.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	29.9	5.045886	0.93685	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.82433	-1.61	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.89619	0.6767	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	P	0.57324	0.818	D	0.90033	0.4136	10	0.59425	D	0.04	-14.8921	19.5396	0.95268	0.0:0.0:1.0:0.0	.	797	O60306	AQR_HUMAN	C	797	ENSP00000156471:R797C	ENSP00000156471:R797C	R	-	1	0	AQR	32977053	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.172000	0.71932	2.611000	0.88343	0.591000	0.81541	CGT		0.343	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	Missense_Mutation	5	49	0	0	0	1	0	5	49				
CCDC186	55088	broad.mit.edu	37	10	115887293	115887293	+	Missense_Mutation	SNP	G	G	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr10:115887293G>A	ENST00000369287.3	-	14	2586	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	C10orf118_ENST00000497592.1_5'Flank|C10orf118_ENST00000543782.1_Missense_Mutation_p.R372W	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		774										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TCATTTTTCCGGGCATGTGCT	0.383																																						ENST00000369287.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24						c.(2320-2322)Cgg>Tgg		chromosome 10 open reading frame 118							148.0	136.0	140.0					10																	115887293		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115887293G>A																												ENST00000369287.3:c.2320C>T	10.37:g.115887293G>A	ENSP00000358293:p.Arg774Trp					C10orf118_ENST00000543782.1_Missense_Mutation_p.R372W	p.R774W	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	14	2586	-		Colorectal(252;0.172)|Breast(234;0.188)	774					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.2320C>T	CCDS7587.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.19|19.19	3.779127|3.779127	0.70107|0.70107	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	.|T	.|0.41758	.|0.99	5.09|5.09	4.17|4.17	0.49024|0.49024	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.64382|0.64382	0.2593|0.2593	M|M	0.80982|0.80982	2.52|2.52	0.51482|0.51482	D|D	0.999927|0.999927	.|D;D	.|0.89917	.|1.0;1.0	.|D;P	.|0.79108	.|0.992;0.897	T|T	0.68842|0.68842	-0.5302|-0.5302	5|10	.|0.87932	.|D	.|0	.|.	12.0536|12.0536	0.53522|0.53522	0.0:0.0:0.6877:0.3123|0.0:0.0:0.6877:0.3123	.|.	.|372;774	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	L|W	402|774;372;880	.|ENSP00000358293:R774W	.|ENSP00000358293:R774W	P|R	-|-	2|1	0|2	C10orf118|C10orf118	115877283|115877283	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	3.862000|3.862000	0.56009|0.56009	1.117000|1.117000	0.41842|0.41842	0.555000|0.555000	0.69702|0.69702	CCG|CGG		0.383	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			5	57	0	0	0	1	0	5	57				
STAB2	55576	broad.mit.edu	37	12	104063362	104063362	+	Missense_Mutation	SNP	A	A	G			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr12:104063362A>G	ENST00000388887.2	+	21	2420	c.2216A>G	c.(2215-2217)cAg>cGg	p.Q739R	RP11-341G23.3_ENST00000550175.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GACTGCAACCAGTGTCCAGGA	0.433																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(2215-2217)cAg>cGg		stabilin 2							121.0	118.0	119.0					12																	104063362		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104063362A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2216A>G	12.37:g.104063362A>G	ENSP00000373539:p.Gln739Arg						p.Q739R	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN			21	2420	+			739			EGF-like 6.			Missense_Mutation	SNP	ENST00000388887.2	37	c.2216A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701312	0.48307	.	.	ENSG00000136011	ENST00000388887	D	0.84070	-1.8	5.44	0.334	0.15948	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.190796	0.43747	D	0.000527	T	0.72236	0.3435	L	0.40543	1.245	0.26474	N	0.97523	B	0.31125	0.309	B	0.27608	0.081	T	0.61327	-0.7085	10	0.46703	T	0.11	.	10.0945	0.42466	0.3076:0.5836:0.0:0.1088	.	739	Q8WWQ8	STAB2_HUMAN	R	739	ENSP00000373539:Q739R	ENSP00000373539:Q739R	Q	+	2	0	STAB2	102587492	0.405000	0.25336	0.809000	0.32408	0.963000	0.63663	1.144000	0.31565	-0.145000	0.11294	0.528000	0.53228	CAG		0.433	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			5	44	0	0	0	1	0	5	44				
SLC46A3	283537	broad.mit.edu	37	13	29284911	29284911	+	Missense_Mutation	SNP	C	C	T	rs139317940		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr13:29284911C>T	ENST00000266943.6	-	4	1499	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377H	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	377					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TTCAGTCGAACGAACCACTTT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		18760	0.0		0.001	False		,,,				2504	0.0					ENST00000266943.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15						c.(1129-1131)cGt>cAt		solute carrier family 46, member 3		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	135.0	132.0	133.0		1130,1130	-11.7	0.0	13	dbSNP_134	133	0,8600		0,0,4300	yes	missense,missense	SLC46A3	NM_001135919.1,NM_181785.3	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	377/464,377/462	29284911	2,13004	2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29284911C>T		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1130G>A	13.37:g.29284911C>T	ENSP00000266943:p.Arg377His					SLC46A3_ENST00000380814.4_Missense_Mutation_p.R377H	p.R377H	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	4	1499	-		Lung SC(185;0.0367)	377					Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.1130G>A	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	C	8.439	0.850358	0.17034	4.54E-4	0.0	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.80909	-1.43;-1.43	5.87	-11.7	0.00046	Major facilitator superfamily domain, general substrate transporter (1);	1.106810	0.06459	N	0.729123	T	0.50446	0.1616	N	0.04880	-0.145	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.0;0.001	T	0.43032	-0.9416	10	0.35671	T	0.21	-0.743	3.0323	0.06110	0.1003:0.2332:0.2976:0.3688	.	377;377	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	H	377	ENSP00000266943:R377H;ENSP00000370192:R377H	ENSP00000266943:R377H	R	-	2	0	SLC46A3	28182911	0.000000	0.05858	0.006000	0.13384	0.932000	0.56968	-0.475000	0.06599	-2.732000	0.00383	-0.940000	0.02684	CGT		0.383	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		4	51	0	0	0	1	0	4	51				
WTAP	9589	broad.mit.edu	37	6	160157288	160157288	+	Splice_Site	SNP	A	A	T			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr6:160157288A>T	ENST00000358372.4	+	2	1749		c.e2-1		WTAP_ENST00000494513.1_Splice_Site|WTAP_ENST00000337387.4_Splice_Site|SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein						cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TTTTTTTTTTAGGATTCAAGA	0.318																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.e2-1		Wilms tumor 1 associated protein							88.0	100.0	96.0					6																	160157288		2203	4299	6502	SO:0001630	splice_region_variant	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160157288A>T	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.-8-1A>T	6.37:g.160157288A>T						SOD2_ENST00000546087.1_Intron|WTAP_ENST00000494513.1_Splice_Site|WTAP_ENST00000337387.4_Splice_Site		NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	2	1749	+		Breast(66;0.000776)|Ovarian(120;0.0303)						Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Splice_Site	SNP	ENST00000358372.4	37		CCDS5266.1																																																																																				0.318	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857	Intron	4	102	0	0	0	1	0	4	102				
NWD1	284434	broad.mit.edu	37	19	16860790	16860790	+	Missense_Mutation	SNP	G	G	C	rs562546617		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr19:16860790G>C	ENST00000552788.1	+	4	1337	c.1337G>C	c.(1336-1338)cGc>cCc	p.R446P	NWD1_ENST00000523826.1_Missense_Mutation_p.R240P|NWD1_ENST00000549814.1_Missense_Mutation_p.R446P|NWD1_ENST00000339803.6_Missense_Mutation_p.R311P|NWD1_ENST00000524140.2_Missense_Mutation_p.R446P|NWD1_ENST00000379808.3_Missense_Mutation_p.R446P			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	446	NACHT.						ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACTCTGTCCGCCATGCTCGG	0.592																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1336-1338)cGc>cCc		NACHT and WD repeat domain containing 1							77.0	74.0	75.0					19																	16860790		2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16860790G>C	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.1337G>C	19.37:g.16860790G>C	ENSP00000447224:p.Arg446Pro					NWD1_ENST00000552788.1_Missense_Mutation_p.R446P|NWD1_ENST00000523826.1_Missense_Mutation_p.R240P|NWD1_ENST00000339803.6_Missense_Mutation_p.R311P|NWD1_ENST00000549814.1_Missense_Mutation_p.R446P|NWD1_ENST00000379808.3_Missense_Mutation_p.R446P	p.R446P	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			6	1755	+			446			NACHT.		C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.1337G>C		.	.	.	.	.	.	.	.	.	.	N	8.220	0.802255	0.16397	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	4.78	-7.51	0.01346	.	1.264110	0.05122	N	0.490912	T	0.68072	0.2961	L	0.27053	0.805	0.09310	N	1	P;P;P	0.50710	0.895;0.924;0.938	B;B;P	0.46237	0.425;0.299;0.508	T	0.63834	-0.6547	10	0.22706	T	0.39	-1.048	8.2986	0.32001	0.6374:0.103:0.2596:0.0	.	446;446;311	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	P	311;446;446;446;240;446;311	ENSP00000428579:R446P;ENSP00000447548:R446P;ENSP00000369136:R446P;ENSP00000428955:R240P;ENSP00000447224:R446P;ENSP00000340159:R311P	ENSP00000340159:R311P	R	+	2	0	NWD1	16721790	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.584000	0.23864	-1.629000	0.01546	-1.845000	0.00574	CGC		0.592	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	38	0	0	0	1	0	5	38				
LCE4A	199834	broad.mit.edu	37	1	152681746	152681746	+	Missense_Mutation	SNP	C	C	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:152681746C>A	ENST00000368777.1	+	2	451	c.195C>A	c.(193-195)caC>caA	p.H65Q	LCE4A_ENST00000335535.3_Missense_Mutation_p.H65Q			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	65	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			ACCACAGACACCATAGGTCCC	0.622																																						ENST00000368777.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10						c.(193-195)caC>caA		late cornified envelope 4A							53.0	61.0	59.0					1																	152681746		2203	4300	6503	SO:0001583	missense	199834				keratinization			g.chr1:152681746C>A	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.195C>A	1.37:g.152681746C>A	ENSP00000357766:p.His65Gln					LCE4A_ENST00000335535.3_Missense_Mutation_p.H65Q	p.H65Q			Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		2	451	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65			Cys-rich.		Q14D97	Missense_Mutation	SNP	ENST00000368777.1	37	c.195C>A	CCDS1022.1	.	.	.	.	.	.	.	.	.	.	C	5.862	0.343264	0.11069	.	.	ENSG00000187170	ENST00000368777;ENST00000335535	T;T	0.03413	3.94;3.94	4.16	1.04	0.20106	.	.	.	.	.	T	0.00936	0.0031	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.47947	-0.9077	8	0.87932	D	0	.	2.9891	0.05978	0.179:0.5423:0.1741:0.1046	.	65	Q5TA78	LCE4A_HUMAN	Q	65	ENSP00000357766:H65Q;ENSP00000335223:H65Q	ENSP00000335223:H65Q	H	+	3	2	LCE4A	150948370	0.002000	0.14202	0.003000	0.11579	0.062000	0.15995	0.320000	0.19540	0.188000	0.20168	0.313000	0.20887	CAC		0.622	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		6	54	1	0	0.00116845	1	0.0013145	6	54				
FAM171B	165215	broad.mit.edu	37	2	187626300	187626300	+	Missense_Mutation	SNP	C	C	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr2:187626300C>A	ENST00000304698.5	+	8	1434	c.1231C>A	c.(1231-1233)Cat>Aat	p.H411N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	411						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACACATAAATCATATCAGTAC	0.383																																						ENST00000304698.5																			0				NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1231-1233)Cat>Aat		family with sequence similarity 171, member B							128.0	137.0	134.0					2																	187626300		2203	4298	6501	SO:0001583	missense	165215					integral to membrane	DNA binding	g.chr2:187626300C>A	AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.1231C>A	2.37:g.187626300C>A	ENSP00000304108:p.His411Asn						p.H411N	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN			8	1434	+			411					Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Missense_Mutation	SNP	ENST00000304698.5	37	c.1231C>A	CCDS33347.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804377	0.70682	.	.	ENSG00000144369	ENST00000304698;ENST00000272804	T	0.30714	1.52	5.93	5.93	0.95920	.	0.252421	0.41396	D	0.000888	T	0.48786	0.1519	L	0.44542	1.39	0.44201	D	0.997029	D;D	0.69078	0.997;0.997	D;D	0.66602	0.945;0.945	T	0.36696	-0.9737	10	0.62326	D	0.03	-16.6784	18.5173	0.90939	0.0:1.0:0.0:0.0	.	411;412	Q6P995;A8K122	F171B_HUMAN;.	N	411	ENSP00000304108:H411N	ENSP00000272804:H411N	H	+	1	0	FAM171B	187334545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.041000	0.57339	2.805000	0.96524	0.655000	0.94253	CAT		0.383	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1	NM_177454		12	96	1	0	0.0167234	1	0.0175012	12	96				
ITGA2	3673	broad.mit.edu	37	5	52360743	52360743	+	Splice_Site	SNP	G	G	A	rs367831030		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr5:52360743G>A	ENST00000296585.5	+	14	1747	c.1604G>A	c.(1603-1605)gGc>gAc	p.G535D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	535					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTTTGCAAGGGCATTTTGGGT	0.448																																						ENST00000296585.5																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.e14-1		integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)							103.0	107.0	106.0					5																	52360743		2203	4300	6503	SO:0001630	splice_region_variant	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52360743G>A		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1603-1G>A	5.37:g.52360743G>A							p.G535_splice	NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN			14	1747	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	535					Q14595	Splice_Site	SNP	ENST00000296585.5	37	c.1602_splice	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191503	0.78902	.	.	ENSG00000164171	ENST00000296585	T	0.03441	3.93	5.67	5.67	0.87782	.	0.048698	0.85682	D	0.000000	T	0.13884	0.0336	M	0.66506	2.035	0.80722	D	1	P;D	0.61697	0.57;0.99	B;P	0.57101	0.342;0.813	T	0.00068	-1.2140	10	0.45353	T	0.12	.	18.3222	0.90242	0.0:0.0:1.0:0.0	.	535;535	E7ESP4;P17301	.;ITA2_HUMAN	D	535	ENSP00000296585:G535D	ENSP00000296585:G535D	G	+	2	0	ITGA2	52396500	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.160000	0.77495	2.836000	0.97738	0.655000	0.94253	GGC		0.448	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	Missense_Mutation	6	61	0	0	0	1	0	6	61				
HNRNPH2	3188	broad.mit.edu	37	X	100667605	100667605	+	Missense_Mutation	SNP	A	A	G			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chrX:100667605A>G	ENST00000316594.5	+	2	707	c.629A>G	c.(628-630)tAt>tGt	p.Y210C		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	210					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CCAGGTCCCTATGATAGGCCG	0.552																																						ENST00000316594.5																			0				breast(3)|large_intestine(2)|lung(6)|skin(1)	12						c.(628-630)tAt>tGt		heterogeneous nuclear ribonucleoprotein H2 (H')							53.0	50.0	51.0					X																	100667605		2203	4300	6503	SO:0001583	missense	3188				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chrX:100667605A>G	U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.629A>G	X.37:g.100667605A>G	ENSP00000361927:p.Tyr210Cys						p.Y210C	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN			2	707	+			210					A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	c.629A>G	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.893613	0.33442	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.13420	2.59	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.18759	0.0450	M	0.71296	2.17	0.80722	D	1	B	0.14805	0.011	B	0.20384	0.029	T	0.02728	-1.1118	10	0.87932	D	0	-6.1163	11.5545	0.50739	1.0:0.0:0.0:0.0	.	210	P55795	HNRH2_HUMAN	C	165;210	ENSP00000361927:Y210C	ENSP00000361927:Y210C	Y	+	2	0	HNRNPH2	100554261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.204000	0.77872	1.930000	0.55929	0.417000	0.27973	TAT		0.552	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597		4	24	0	0	0	1	0	4	24				
PCNA	5111	broad.mit.edu	37	20	5099414	5099414	+	Splice_Site	SNP	C	C	T	rs112672560		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr20:5099414C>T	ENST00000379160.3	-	3	562		c.e3+1		SNORA26_ENST00000391215.1_RNA|PCNA_ENST00000379143.5_Splice_Site	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen						base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|epithelial cell differentiation (GO:0030855)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|leading strand elongation (GO:0006272)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of deoxyribonuclease activity (GO:0032077)|regulation of DNA replication (GO:0006275)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|response to cadmium ion (GO:0046686)|response to lipid (GO:0033993)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)|translesion synthesis (GO:0019985)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|nuclear replication fork (GO:0043596)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA complex (GO:0043626)|PCNA-p21 complex (GO:0070557)	dinucleotide insertion or deletion binding (GO:0032139)|DNA polymerase binding (GO:0070182)|DNA polymerase processivity factor activity (GO:0030337)|identical protein binding (GO:0042802)|MutLalpha complex binding (GO:0032405)|purine-specific mismatch base pair DNA N-glycosylase activity (GO:0000701)|receptor tyrosine kinase binding (GO:0030971)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						GTACGACTTACTTGGTGCTTC	0.413								DNA polymerases (catalytic subunits)																														ENST00000379160.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						c.e3+1	DNA polymerases (catalytic subunits)	proliferating cell nuclear antigen							232.0	229.0	230.0					20																	5099414		2203	4300	6503	SO:0001630	splice_region_variant	5111				cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity	g.chr20:5099414C>T	J04718	CCDS13087.1	20p13-p12.3	2013-09-19			ENSG00000132646	ENSG00000132646			8729	protein-coding gene	gene with protein product		176740				2565339	Standard	NM_002592		Approved		uc002wlp.3	P12004	OTTHUMG00000031798	ENST00000379160.3:c.319+1G>A	20.37:g.5099414C>T						PCNA_ENST00000379143.5_Splice_Site		NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN			3	562	-								B2R897|D3DW02	Splice_Site	SNP	ENST00000379160.3	37		CCDS13087.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247104	0.59103	.	.	ENSG00000132646	ENST00000379143;ENST00000379160	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5007	0.61454	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCNA	5047414	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	5.647000	0.67923	2.175000	0.68902	0.557000	0.71058	.		0.413	PCNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077852.2		Intron	17	204	0	0	0	1	0	17	204				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			6	110	0	0	0	1	0	6	110				
DFNB59	494513	broad.mit.edu	37	2	179320876	179320876	+	Missense_Mutation	SNP	C	C	T	rs111706634	byFrequency	TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr2:179320876C>T	ENST00000409117.3	+	4	903	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Missense_Mutation_p.R183W	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	183			R -> W (in DFNB59). {ECO:0000269|PubMed:16804542}.		sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GGAAGCAATGCGGGTAAACCA	0.443																																						ENST00000409117.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18	GRCh37	CM062580	DFNB59	M	rs111706634	c.(547-549)Cgg>Tgg		deafness, autosomal recessive 59							56.0	56.0	56.0					2																	179320876		1976	4157	6133	SO:0001583	missense	494513				sensory perception of sound			g.chr2:179320876C>T	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.547C>T	2.37:g.179320876C>T	ENSP00000386647:p.Arg183Trp					DFNB59_ENST00000375129.4_Missense_Mutation_p.R183W|DFNB59_ENST00000605419.1_3'UTR	p.R183W	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		4	903	+			183		R -> W (in DFNB59).			A0PK14|B9EJE2	Missense_Mutation	SNP	ENST00000409117.3	37	c.547C>T	CCDS42787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.8|20.8	4.052782|4.052782	0.75960|0.75960	.|.	.|.	ENSG00000204311|ENSG00000204311	ENST00000442710|ENST00000409117;ENST00000375129	.|T;T	.|0.21932	.|1.98;1.98	5.66|5.66	-0.636|-0.636	0.11508|0.11508	.|.	.|0.000000	.|0.31358	.|U	.|0.007790	T|T	0.36110|0.36110	0.0955|0.0955	L|L	0.44542|0.44542	1.39|1.39	0.53005|0.53005	D|D	0.99996|0.99996	.|D	.|0.89917	.|1.0	.|D	.|0.78314	.|0.991	T|T	0.17623|0.17623	-1.0363|-1.0363	5|10	.|0.49607	.|T	.|0.09	-35.3678|-35.3678	17.3259|17.3259	0.87246|0.87246	0.6828:0.3172:0.0:0.0|0.6828:0.3172:0.0:0.0	.|.	.|183	.|Q0ZLH3	.|PJVK_HUMAN	V|W	130|183	.|ENSP00000386647:R183W;ENSP00000364271:R183W	.|ENSP00000364271:R183W	A|R	+|+	2|1	0|2	DFNB59|DFNB59	179029122|179029122	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.986000|0.986000	0.74619|0.74619	1.430000|1.430000	0.34914|0.34914	0.066000|0.066000	0.16515|0.16515	-0.122000|-0.122000	0.15005|0.15005	GCG|CGG		0.443	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			3	22	0	0	0	1	0	3	22				
STIL	6491	broad.mit.edu	37	1	47746429	47746429	+	Silent	SNP	C	C	T	rs368458430		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:47746429C>T	ENST00000360380.3	-	13	2064	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	STIL_ENST00000243182.6_Silent_p.P567P|STIL_ENST00000371877.3_Silent_p.P567P|STIL_ENST00000396221.2_Silent_p.P567P|STIL_ENST00000337817.5_Silent_p.P567P	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	567					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GTTGGGACTGCGGGGCAAGAG	0.433																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1699-1701)ccG>ccA		SCL/TAL1 interrupting locus		C	,	0,4406		0,0,2203	119.0	132.0	128.0		1701,1701	1.6	1.0	1		128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	STIL	NM_001048166.1,NM_003035.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	567/1289,567/1288	47746429	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746429C>T	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1701G>A	1.37:g.47746429C>T						STIL_ENST00000396221.2_Silent_p.P567P|STIL_ENST00000371877.3_Silent_p.P567P|STIL_ENST00000337817.5_Silent_p.P567P|STIL_ENST00000243182.6_Silent_p.P567P	p.P567P			Q15468	STIL_HUMAN			13	2064	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	567					Q5T0C5|Q68CN9	Silent	SNP	ENST00000360380.3	37	c.1701G>A	CCDS548.1																																																																																				0.433	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		4	71	0	0	0	1	0	4	71				
RAP1A	5906	broad.mit.edu	37	1	112240073	112240073	+	Missense_Mutation	SNP	T	T	C			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:112240073T>C	ENST00000369709.3	+	4	316	c.137T>C	c.(136-138)gTc>gCc	p.V46A	RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000545460.1_Missense_Mutation_p.V46A|RAP1A_ENST00000436150.2_Missense_Mutation_p.V46A|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46A	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	46					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		CAAGTTGAAGTCGATTGCCAA	0.363																																						ENST00000369709.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(136-138)gTc>gCc		RAP1A, member of RAS oncogene family							151.0	155.0	154.0					1																	112240073		2203	4300	6503	SO:0001583	missense	5906				activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr1:112240073T>C	BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.137T>C	1.37:g.112240073T>C	ENSP00000358723:p.Val46Ala					RAP1A_ENST00000545460.1_Missense_Mutation_p.V46A|RAP1A_ENST00000356415.1_Missense_Mutation_p.V46A|RAP1A_ENST00000494982.1_3'UTR|RAP1A_ENST00000436150.2_Missense_Mutation_p.V46A	p.V46A	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)	4	316	+		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)	46					P10113	Missense_Mutation	SNP	ENST00000369709.3	37	c.137T>C	CCDS840.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.730725	0.69074	.	.	ENSG00000116473	ENST00000356415;ENST00000433097;ENST00000369709;ENST00000436150;ENST00000545460	T;T;T;T;T	0.72282	-0.64;-0.64;-0.64;-0.64;-0.64	5.33	5.33	0.75918	Small GTP-binding protein domain (1);	0.060932	0.64402	D	0.000004	T	0.67325	0.2881	M	0.85542	2.76	0.80722	D	1	B	0.10296	0.003	B	0.25506	0.061	T	0.71251	-0.4648	10	0.62326	D	0.03	.	15.2735	0.73723	0.0:0.0:0.0:1.0	.	46	P62834	RAP1A_HUMAN	A	46	ENSP00000348786:V46A;ENSP00000396741:V46A;ENSP00000358723:V46A;ENSP00000394318:V46A;ENSP00000443009:V46A	ENSP00000348786:V46A	V	+	2	0	RAP1A	112041596	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.143000	0.66587	0.528000	0.53228	GTC		0.363	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1	NM_002884		5	66	0	0	0	1	0	5	66				
MFSD6L	162387	broad.mit.edu	37	17	8702014	8702014	+	Missense_Mutation	SNP	G	G	C			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr17:8702014G>C	ENST00000329805.4	-	1	653	c.425C>G	c.(424-426)gCc>gGc	p.A142G		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	142						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGTCCTCTTGGCTGGGTGGCT	0.587																																						ENST00000329805.4																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						c.(424-426)gCc>gGc		major facilitator superfamily domain containing 6-like							81.0	89.0	87.0					17																	8702014		2203	4300	6503	SO:0001583	missense	162387					integral to membrane		g.chr17:8702014G>C	AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.425C>G	17.37:g.8702014G>C	ENSP00000330051:p.Ala142Gly						p.A142G	NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN			1	653	-			142					Q6YL34|Q8NA76	Missense_Mutation	SNP	ENST00000329805.4	37	c.425C>G	CCDS11146.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911002	0.33721	.	.	ENSG00000185156	ENST00000329805	T	0.45668	0.89	4.27	-8.53	0.00916	.	3.379840	0.00932	N	0.002721	T	0.31358	0.0794	N	0.16066	0.365	0.09310	N	1	D	0.56287	0.975	P	0.57371	0.819	T	0.46721	-0.9171	10	0.15952	T	0.53	-3.8889	3.8102	0.08793	0.1626:0.4882:0.1549:0.1943	.	142	Q8IWD5	MFS6L_HUMAN	G	142	ENSP00000330051:A142G	ENSP00000330051:A142G	A	-	2	0	MFSD6L	8642739	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.242000	0.18087	-1.681000	0.01448	-0.176000	0.13171	GCC		0.587	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442554.1	NM_152599		5	61	0	0	0	1	0	5	61				
SLC4A7	9497	broad.mit.edu	37	3	27453211	27453211	+	Missense_Mutation	SNP	T	T	C	rs370056312		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr3:27453211T>C	ENST00000295736.5	-	12	1731	c.1661A>G	c.(1660-1662)aAt>aGt	p.N554S	SLC4A7_ENST00000425128.2_Missense_Mutation_p.N546S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.N104S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N439S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N546S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N430S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N563S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	554					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GGTAGATCCATTGTGAAACAC	0.413																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1660-1662)aAt>aGt		solute carrier family 4, sodium bicarbonate cotransporter, member 7		T	SER/ASN	0,4406		0,0,2203	57.0	59.0	58.0		1661	5.4	1.0	3		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC4A7	NM_003615.3	46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	554/1215	27453211	1,13005	2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27453211T>C	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1661A>G	3.37:g.27453211T>C	ENSP00000295736:p.Asn554Ser					SLC4A7_ENST00000455077.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.N435S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.N104S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N439S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N430S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N546S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N550S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N563S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N546S	p.N554S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			12	1731	-			554					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.1661A>G	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.867078	0.51588	0.0	1.16E-4	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000425128;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80393	-1.36;-1.06;-1.11;-1.07;-1.15;-1.11;-1.14;-1.11;-1.14;-1.11;-1.37;0.24;-1.1	5.43	5.43	0.79202	Bicarbonate transporter, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.87321	0.6148	M	0.73598	2.24	0.41352	D	0.987372	D;D;D;D;D;D;D;D;D	0.61080	0.985;0.977;0.985;0.976;0.985;0.963;0.987;0.985;0.989	P;P;P;P;P;P;D;P;D	0.67548	0.867;0.887;0.867;0.695;0.867;0.883;0.947;0.867;0.952	D	0.84750	0.0756	10	0.11182	T	0.66	.	15.7674	0.78138	0.0:0.0:0.0:1.0	.	550;435;546;550;563;104;430;554;435	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	S	105;554;430;563;550;435;546;435;550;439;104;546;450	ENSP00000411031:N105S;ENSP00000295736:N554S;ENSP00000416368:N430S;ENSP00000390394:N563S;ENSP00000414797:N550S;ENSP00000394252:N435S;ENSP00000406605:N546S;ENSP00000407382:N435S;ENSP00000406804:N550S;ENSP00000395336:N439S;ENSP00000373429:N104S;ENSP00000401949:N546S;ENSP00000388703:N450S	ENSP00000295736:N554S	N	-	2	0	SLC4A7	27428215	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	7.499000	0.81566	2.179000	0.69175	0.533000	0.62120	AAT		0.413	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		6	20	0	0	0	1	0	6	20				
KRTAP4-6	81871	broad.mit.edu	37	17	39296626	39296626	+	Silent	SNP	G	G	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr17:39296626G>A	ENST00000345847.4	-	1	113	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	38	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						CACAGCAGCTGGGGCGGCAGC	0.667																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(112-114)ccC>ccT		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296626G>A	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.114C>T	17.37:g.39296626G>A							p.P38P	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	113	-			38			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.114C>T	CCDS54125.1																																																																																				0.667	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			3	41	0	0	0	1	0	3	41				
KRTAP4-6	81871	broad.mit.edu	37	17	39296674	39296674	+	Silent	SNP	G	G	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr17:39296674G>A	ENST00000345847.4	-	1	65	c.66C>T	c.(64-66)cgC>cgT	p.R22R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	22	30 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCAGCTGGGGCGGCAGCAGG	0.632																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(64-66)cgC>cgT		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296674G>A	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.66C>T	17.37:g.39296674G>A							p.R22R	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	65	-			22			29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].		Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.66C>T	CCDS54125.1																																																																																				0.632	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			4	33	0	0	0	1	0	4	33				
SLC9C2	284525	broad.mit.edu	37	1	173542454	173542454	+	Missense_Mutation	SNP	T	T	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:173542454T>A	ENST00000367714.3	-	9	1335	c.913A>T	c.(913-915)Att>Ttt	p.I305F	SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203F|SLC9C2_ENST00000466087.1_5'UTR|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	305					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GATGAAAAAATTCTTAAGAAC	0.269																																						ENST00000367714.3																			0											c.(913-915)Att>Ttt		solute carrier family 9, member C2 (putative)							34.0	35.0	35.0					1																	173542454		2200	4291	6491	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173542454T>A	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.913A>T	1.37:g.173542454T>A	ENSP00000356687:p.Ile305Phe					SLC9C2_ENST00000536496.1_Missense_Mutation_p.I203F|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR	p.I305F	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			9	1335	-			305					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.913A>T	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	4.887	0.164927	0.09287	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.06528	3.29;3.29	5.17	2.72	0.32119	Cation/H+ exchanger (1);	0.667115	0.14593	N	0.310103	T	0.00845	0.0028	N	0.03608	-0.345	0.09310	N	1	P	0.38677	0.642	B	0.40741	0.339	T	0.36939	-0.9727	10	0.13108	T	0.6	-12.9559	4.6731	0.12699	0.0:0.0988:0.1941:0.7071	.	305	Q5TAH2	S9A11_HUMAN	F	305;203	ENSP00000356687:I305F;ENSP00000445437:I203F	ENSP00000356687:I305F	I	-	1	0	SLC9A11	171809077	0.413000	0.25400	0.272000	0.24630	0.060000	0.15804	1.323000	0.33701	0.823000	0.34589	0.533000	0.62120	ATT		0.269	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		6	47	0	0	0	1	0	6	47				
ZBTB7C	201501	broad.mit.edu	37	18	45566931	45566931	+	Missense_Mutation	SNP	A	A	C			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr18:45566931A>C	ENST00000588982.1	-	3	1049	c.548T>G	c.(547-549)aTc>aGc	p.I183S	ZBTB7C_ENST00000590800.1_Missense_Mutation_p.I183S|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.I183S|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.I183S|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.I183S			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	183							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTGGCAGCTGATGTCCTGGGG	0.562																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(547-549)aTc>aGc		zinc finger and BTB domain containing 7C							120.0	114.0	116.0					18																	45566931		2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566931A>C	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.548T>G	18.37:g.45566931A>C	ENSP00000468782:p.Ile183Ser					ZBTB7C_ENST00000535628.2_Missense_Mutation_p.I183S|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.I183S|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.I183S|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.I183S	p.I183S			A1YPR0	ZBT7C_HUMAN			3	1049	-			183					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.548T>G	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	A	10.14	1.269315	0.23221	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.10099	2.91;2.91	5.18	5.18	0.71444	.	0.609167	0.17306	N	0.179061	T	0.03915	0.0110	N	0.03608	-0.345	0.31717	N	0.638838	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.27640	-1.0068	10	0.08381	T	0.77	.	6.4401	0.21845	0.7609:0.159:0.0802:0.0	.	183;183;183	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	S	183	ENSP00000439781:I183S;ENSP00000328732:I183S	ENSP00000328732:I183S	I	-	2	0	ZBTB7C	43820929	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.894000	0.39768	1.946000	0.56461	0.402000	0.26972	ATC		0.562	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		5	55	0	0	0	1	0	5	55				
SIRPB1	10326	broad.mit.edu	37	20	1592193	1592193	+	Intron	SNP	C	C	T	rs371465078	byFrequency	TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr20:1592193C>T	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000279477.7_Silent_p.Q81Q|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCCTTCTTTCTGATTGTAGA	0.522													t|||	2823	0.563698	0.68	0.3876	5008	,	,		6072	0.631		0.3748	False		,,,				2504	0.6564					ENST00000279477.7																			0				central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(241-243)caG>caA		signal-regulatory protein beta 1							94.0	111.0	106.0					20																	1592193		447	1317	1764	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1592193C>T	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+8321G>A	20.37:g.1592193C>T						RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381605.4_Intron	p.Q81Q	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			2	307	-			81			Ig-like V-type.		A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Silent	SNP	ENST00000381605.4	37	c.243G>A	CCDS13019.1																																																																																				0.522	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		3	18	0	0	0	1	0	3	18				
SPOP	8405	broad.mit.edu	37	17	47696431	47696431	+	Missense_Mutation	SNP	C	C	A			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr17:47696431C>A	ENST00000393328.2	-	6	757	c.392G>T	c.(391-393)tGg>tTg	p.W131L	SPOP_ENST00000393331.3_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)																												ENST00000393331.3																			0				endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)tGg>tTg		speckle-type POZ protein							121.0	123.0	123.0					17																	47696431		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696431C>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.392G>T	17.37:g.47696431C>A	ENSP00000377001:p.Trp131Leu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.W131L|SPOP_ENST00000503676.1_Missense_Mutation_p.W131L|SPOP_ENST00000393328.2_Missense_Mutation_p.W131L|SPOP_ENST00000347630.2_Missense_Mutation_p.W131L	p.W131L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	862	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.392G>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915396	0.92178	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	M	0.67700	2.07	0.80722	D	1	P	0.47841	0.901	P	0.51516	0.672	T	0.76337	-0.2996	10	0.52906	T	0.07	0.1404	18.9712	0.92715	0.0:1.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	L	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131L;ENSP00000377004:W131L;ENSP00000240327:W131L;ENSP00000425905:W131L;ENSP00000420908:W131L;ENSP00000426986:W131L;ENSP00000420960:W131L;ENSP00000426262:W131L;ENSP00000424119:W131L	ENSP00000240327:W131L	W	-	2	0	SPOP	45051430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.583000	0.82559	2.802000	0.96397	0.563000	0.77884	TGG		0.453	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		5	79	1	0	0.217242	1	0.217242	5	79				
C5orf38	153571	broad.mit.edu	37	5	2755214	2755214	+	3'UTR	SNP	G	G	A	rs540972515	byFrequency	TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr5:2755214G>A	ENST00000334000.3	+	0	593				C5orf38_ENST00000397835.4_Silent_p.A135A|IRX2_ENST00000502957.1_5'Flank	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38							extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GAGGCCGAGCGCGAGGAACAG	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		10197	0.002		0.0	False		,,,				2504	0.0					ENST00000397835.4																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(403-405)gcG>gcA		chromosome 5 open reading frame 38							29.0	31.0	30.0					5																	2755214		692	1591	2283	SO:0001624	3_prime_UTR_variant	153571					extracellular region		g.chr5:2755214G>A	AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.*59G>A	5.37:g.2755214G>A						C5orf38_ENST00000334000.3_3'UTR	p.A135A			Q86SI9	CEI_HUMAN		GBM - Glioblastoma multiforme(108;0.205)	3	405	+			0						Silent	SNP	ENST00000334000.3	37	c.405G>A	CCDS34131.1																																																																																				0.657	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365956.2	NM_178569		9	53	0	0	0	1	0	9	53				
SEMA3C	10512	broad.mit.edu	37	7	80418784	80418784	+	Missense_Mutation	SNP	C	C	G			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr7:80418784C>G	ENST00000265361.3	-	12	1753	c.1192G>C	c.(1192-1194)Gtc>Ctc	p.V398L	SEMA3C_ENST00000419255.2_Missense_Mutation_p.V398L|SEMA3C_ENST00000544525.1_Missense_Mutation_p.V416L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	398	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATAAAAGTGACAACATCATCT	0.388																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1192-1194)Gtc>Ctc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							134.0	123.0	126.0					7																	80418784		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80418784C>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1192G>C	7.37:g.80418784C>G	ENSP00000265361:p.Val398Leu					SEMA3C_ENST00000544525.1_Missense_Mutation_p.V416L|SEMA3C_ENST00000419255.2_Missense_Mutation_p.V398L	p.V398L	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			12	1753	-			398			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1192G>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735883	0.89482	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.15952	2.38;2.38;2.38	5.81	5.81	0.92471	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.13543	0.0328	N	0.16016	0.355	0.80722	D	1	P;P	0.39022	0.603;0.655	B;B	0.43018	0.283;0.405	T	0.01829	-1.1265	10	0.02654	T	1	.	20.0755	0.97742	0.0:1.0:0.0:0.0	.	416;398	F5H1Z7;Q99985	.;SEM3C_HUMAN	L	398;398;416	ENSP00000265361:V398L;ENSP00000411193:V398L;ENSP00000445649:V416L	ENSP00000265361:V398L	V	-	1	0	SEMA3C	80256720	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.818000	0.86416	2.749000	0.94314	0.460000	0.39030	GTC		0.388	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		3	31	0	0	0	1	0	3	31				
PRRC2C	23215	broad.mit.edu	37	1	171493968	171493968	+	Frame_Shift_Del	DEL	A	A	-			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr1:171493968delA	ENST00000338920.4	+	10	1295	c.1058delA	c.(1057-1059)caafs	p.Q353fs	PRRC2C_ENST00000367742.3_Frame_Shift_Del_p.Q355fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.Q355fs|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.Q353fs	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	353					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										AGTGAGGATCAAGGTTCAAAA	0.328																																						ENST00000367742.3																			0											c.(1063-1065)cafs		proline-rich coiled-coil 2C							43.0	39.0	41.0					1																	171493968		2203	4298	6501	SO:0001589	frameshift_variant	23215						protein C-terminus binding	g.chr1:171493968delA	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.1058delA	1.37:g.171493968delA	ENSP00000343629:p.Gln353fs					PRRC2C_ENST00000338920.4_Frame_Shift_Del_p.Q353fs|PRRC2C_ENST00000392078.3_Frame_Shift_Del_p.Q355fs|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000426496.2_Frame_Shift_Del_p.Q353fs	p.Q355fs			Q9Y520	PRC2C_HUMAN			10	1306	+			353					Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Frame_Shift_Del	DEL	ENST00000338920.4	37	c.1064delA	CCDS1296.2																																																																																				0.328	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		2	4						2	4	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	3						4	3	---	---	---	---
LOC374890	374890	broad.mit.edu	37	19	22803277	22803277	+	lincRNA	DEL	C	C	-			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr19:22803277delC	ENST00000598042.1	-	0	115																											GTGCAGGGGTCCAGAGCCATT	0.597																																						ENST00000598042.1																			0																																																			0							g.chr19:22803277delC																													19.37:g.22803277delC														0	115	-									RNA	DEL	ENST00000598042.1	37																																																																																						0.597	AC011516.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000464579.1			2	4						2	4	---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51293714	51293716	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chr19:51293714_51293716delCTG	ENST00000270593.1	+	1	43_45	c.43_45delCTG	c.(43-45)ctgdel	p.L20del	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	20						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGACCTCTCctgctgctgctgc	0.709																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(43-45)del		acid phosphatase, testicular				168,3966		7,154,1906						-0.3	0.0			15	194,7852		8,178,3837	no	coding	ACPT	NM_033068.2		15,332,5743	A1A1,A1R,RR		2.4111,4.0639,2.9721				362,11818				SO:0001651	inframe_deletion	93650					integral to membrane	acid phosphatase activity	g.chr19:51293714_51293716delCTG	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.43_45delCTG	19.37:g.51293723_51293725delCTG	ENSP00000270593:p.Leu20del					ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	43_45	+		all_neural(266;0.057)	20					C0H3P7|Q9BZG3|Q9BZG4	In_Frame_Del	DEL	ENST00000270593.1	37	c.43_45delCTG	CCDS12802.1																																																																																				0.709	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		2	4						2	4	---	---	---	---
RNA5-8SP6	100873336	broad.mit.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-X4-A8KS-01A-12D-A364-08	TCGA-X4-A8KS-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82e2c88f-f5dd-441d-8a01-80d89c3f693d	a1004109-c2d6-4bb6-8dc9-d41d46ba165a	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552																																						ENST00000515896.1																			0																																																			0							g.chrY:10037863delC			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC														0	100	+									RNA	DEL	ENST00000515896.1	37																																																																																						0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	rRNA				2	4						2	4	---	---	---	---
