#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
POU4F3	5459	broad.mit.edu	37	5	145719616	145719616	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:145719616G>A	ENST00000230732.4	+	2	715	c.626G>A	c.(625-627)gGc>gAc	p.G209D	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	209	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGACGTGGGCGCGGCTCTG	0.637																																						ENST00000230732.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17						c.(625-627)gGc>gAc		POU class 4 homeobox 3							40.0	44.0	42.0					5																	145719616		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719616G>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.626G>A	5.37:g.145719616G>A	ENSP00000230732:p.Gly209Asp					CTC-359M8.1_ENST00000515598.1_RNA	p.G209D	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	715	+			209			POU-specific.		O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.626G>A	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974711	0.74360	.	.	ENSG00000091010	ENST00000230732	D	0.87966	-2.32	4.51	4.51	0.55191	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.85682	D	0.000000	D	0.94870	0.8342	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96106	0.9073	10	0.87932	D	0	.	16.1394	0.81513	0.0:0.0:1.0:0.0	.	209	Q15319	PO4F3_HUMAN	D	209	ENSP00000230732:G209D	ENSP00000230732:G209D	G	+	2	0	POU4F3	145699809	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.627000	0.98412	2.312000	0.78011	0.462000	0.41574	GGC		0.637	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		6	73	0	0	0	1	0	6	73				
UNC5C	8633	broad.mit.edu	37	4	96140272	96140272	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr4:96140272G>A	ENST00000453304.1	-	9	1841	c.1493C>T	c.(1492-1494)aCg>aTg	p.T498M	UNC5C_ENST00000506749.1_Missense_Mutation_p.T517M	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	498					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAGCTTGGACGTAAACTCAGA	0.512																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(1492-1494)aCg>aTg		unc-5 homolog C (C. elegans)							191.0	168.0	176.0					4																	96140272		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140272G>A	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.1493C>T	4.37:g.96140272G>A	ENSP00000406022:p.Thr498Met					UNC5C_ENST00000506749.1_Missense_Mutation_p.T517M	p.T498M	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1841	-		Hepatocellular(203;0.114)	498					Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1493C>T	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728366	0.30593	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.57107	0.75;0.42;0.43	5.45	5.45	0.79879	.	0.420838	0.28052	N	0.016782	T	0.38134	0.1029	N	0.16368	0.405	0.80722	D	1	B;P;P	0.49358	0.009;0.923;0.768	B;B;B	0.38156	0.004;0.266;0.178	T	0.26849	-1.0091	10	0.32370	T	0.25	.	19.2996	0.94138	0.0:0.0:1.0:0.0	.	498;517;498	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	M	498;457;517;517	ENSP00000406022:T498M;ENSP00000426924:T517M;ENSP00000426153:T517M	ENSP00000328673:T457M	T	-	2	0	UNC5C	96359295	1.000000	0.71417	0.119000	0.21687	0.033000	0.12548	9.623000	0.98386	2.555000	0.86185	0.655000	0.94253	ACG		0.512	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		4	180	0	0	0	1	0	4	180				
DNAH5	1767	broad.mit.edu	37	5	13737517	13737517	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr5:13737517G>A	ENST00000265104.4	-	66	11403	c.11299C>T	c.(11299-11301)Cgc>Tgc	p.R3767C		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3767	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3767C(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCAGGCGGTAAAGCAAG	0.428									Kartagener syndrome																													ENST00000265104.4																			1	Substitution - Missense(1)	p.R3767C(1)	endometrium(1)	NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11299-11301)Cgc>Tgc		dynein, axonemal, heavy chain 5							187.0	170.0	176.0					5																	13737517		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13737517G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11299C>T	5.37:g.13737517G>A	ENSP00000265104:p.Arg3767Cys						p.R3767C	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			66	11403	-	Lung NSC(4;0.00476)		3767			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11299C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469595	0.63625	.	.	ENSG00000039139	ENST00000265104	T	0.34072	1.38	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.68026	0.2956	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.76860	-0.2803	10	0.87932	D	0	.	13.7836	0.63097	0.0:0.0:0.7209:0.2791	.	3767	Q8TE73	DYH5_HUMAN	C	3767	ENSP00000265104:R3767C	ENSP00000265104:R3767C	R	-	1	0	DNAH5	13790517	1.000000	0.71417	0.991000	0.47740	0.801000	0.45260	2.442000	0.44873	1.393000	0.46605	0.655000	0.94253	CGC		0.428	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		4	116	0	0	0	1	0	4	116				
NPHP3	27031	broad.mit.edu	37	3	132423069	132423069	+	Silent	SNP	A	A	G			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr3:132423069A>G	ENST00000337331.5	-	9	1583	c.1497T>C	c.(1495-1497)aaT>aaC	p.N499N	NPHP3_ENST00000326682.8_Silent_p.N499N|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	499					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATGGGCTGAATTAGAAGCCT	0.388																																						ENST00000326682.8																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1495-1497)aaT>aaC		nephronophthisis 3 (adolescent)							180.0	181.0	181.0					3																	132423069		2203	4300	6503	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132423069A>G	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1497T>C	3.37:g.132423069A>G						NPHP3_ENST00000337331.5_Silent_p.N499N	p.N499N			Q7Z494	NPHP3_HUMAN			9	1573	-			499					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.1497T>C	CCDS3078.1																																																																																				0.388	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		3	172	0	0	0	1	0	3	172				
LRP2	4036	broad.mit.edu	37	2	170058316	170058316	+	Silent	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr2:170058316G>A	ENST00000263816.3	-	44	8559	c.8274C>T	c.(8272-8274)taC>taT	p.Y2758Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2758	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AATCACAGCGGTAAGAGTATT	0.493																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8272-8274)taC>taT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						151.0	129.0	136.0					2																	170058316		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058316G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8274C>T	2.37:g.170058316G>A							p.Y2758Y	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8559	-			2758			LDL-receptor class A 17.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.8274C>T	CCDS2232.1																																																																																				0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		3	130	0	0	0	1	0	3	130				
PANX1	24145	broad.mit.edu	37	11	93912962	93912962	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:93912962G>A	ENST00000227638.3	+	4	1125	c.740G>A	c.(739-741)aGc>aAc	p.S247N	PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN	pannexin 1	247					calcium ion transport (GO:0006816)|cation transport (GO:0006812)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 alpha secretion (GO:0050717)|positive regulation of interleukin-1 beta secretion (GO:0050718)|protein hexamerization (GO:0034214)|response to ATP (GO:0033198)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	bleb (GO:0032059)|endoplasmic reticulum (GO:0005783)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium channel activity (GO:0005262)|gap junction hemi-channel activity (GO:0055077)|leak channel activity (GO:0022840)|receptor binding (GO:0005102)			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Probenecid(DB01032)	TTTGTGTGCAGCATCAAATCA	0.493																																						ENST00000227638.3																			0				endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(739-741)aGc>aAc		pannexin 1							184.0	160.0	168.0					11																	93912962		2201	4298	6499	SO:0001583	missense	24145				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding	g.chr11:93912962G>A	AF093239	CCDS8296.1	11q14-q21	2011-12-02			ENSG00000110218	ENSG00000110218		"""Ion channels / Pannexins"""	8599	protein-coding gene	gene with protein product	"""innexin"""	608420				14597722	Standard	NM_015368		Approved	MRS1, UNQ2529, PX1	uc001per.3	Q96RD7	OTTHUMG00000167757	ENST00000227638.3:c.740G>A	11.37:g.93912962G>A	ENSP00000227638:p.Ser247Asn					PANX1_ENST00000436171.2_Missense_Mutation_p.S247N	p.S247N	NM_015368.3	NP_056183.2	Q96RD7	PANX1_HUMAN			4	1125	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	247					O75968|Q543A0|Q6UW26|Q96AM9|Q96L77|Q96RS5	Missense_Mutation	SNP	ENST00000227638.3	37	c.740G>A	CCDS8296.1	.	.	.	.	.	.	.	.	.	.	G	8.720	0.914143	0.17907	.	.	ENSG00000110218	ENST00000227638;ENST00000436171	T;T	0.18174	2.23;2.23	5.95	4.09	0.47781	.	0.306737	0.45606	N	0.000347	T	0.12646	0.0307	L	0.47016	1.485	0.31010	N	0.719366	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.18967	-1.0320	10	0.17832	T	0.49	-17.2145	5.2943	0.15745	0.2869:0.1384:0.5747:0.0	.	247;247	Q96RD7;Q96RD7-2	PANX1_HUMAN;.	N	247	ENSP00000227638:S247N;ENSP00000411461:S247N	ENSP00000227638:S247N	S	+	2	0	PANX1	93552610	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	1.145000	0.31577	0.858000	0.35431	0.655000	0.94253	AGC		0.493	PANX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396121.1	NM_015368		3	118	0	0	0	1	0	3	118				
TP53INP1	94241	broad.mit.edu	37	8	95952260	95952260	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:95952260G>A	ENST00000342697.4	-	3	708	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	TP53INP1_ENST00000378776.4_Missense_Mutation_p.P101S|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.P101S	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	101					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAACATGGGGGTGGGGTGATA	0.463																																						ENST00000342697.4																			0				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(301-303)Ccc>Tcc		tumor protein p53 inducible nuclear protein 1							123.0	115.0	118.0					8																	95952260		2203	4300	6503	SO:0001583	missense	0				apoptosis	PML body		g.chr8:95952260G>A	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.301C>T	8.37:g.95952260G>A	ENSP00000344215:p.Pro101Ser					TP53INP1_ENST00000448464.2_Missense_Mutation_p.P101S|TP53INP1_ENST00000378776.4_Missense_Mutation_p.P101S|NDUFAF6_ENST00000396113.1_Intron	p.P101S	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	708	-	Breast(36;8.75e-07)		101					B2RCE5|Q969R9	Missense_Mutation	SNP	ENST00000342697.4	37	c.301C>T	CCDS6265.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548502	0.86127	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.79454	-1.27;-1.27;-1.27	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.88455	0.6441	M	0.80183	2.485	0.80722	D	1	P;D	0.89917	0.873;1.0	P;D	0.91635	0.554;0.999	D	0.90117	0.4196	10	0.87932	D	0	-17.2002	15.699	0.77528	0.0652:0.0:0.9348:0.0	.	101;101	Q96A56-2;Q96A56	.;T53I1_HUMAN	S	101	ENSP00000390063:P101S;ENSP00000344215:P101S;ENSP00000368052:P101S	ENSP00000344215:P101S	P	-	1	0	TP53INP1	96021436	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.323000	0.96364	1.630000	0.50440	0.655000	0.94253	CCC		0.463	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			3	78	0	0	0	1	0	3	78				
DLG2	1740	broad.mit.edu	37	11	84028118	84028118	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:84028118G>A	ENST00000398301.2	-	1	264	c.71C>T	c.(70-72)gCg>gTg	p.A24V	DLG2_ENST00000532653.1_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.A24V|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000524982.1_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CAGGGTGGGCGCACTCCTGAC	0.592																																						ENST00000280241.8																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(70-72)gCg>gTg		discs, large homolog 2 (Drosophila)							235.0	216.0	222.0					11																	84028118		876	1990	2866	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84028118G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398301.2:c.71C>T	11.37:g.84028118G>A	ENSP00000381346:p.Ala24Val					DLG2_ENST00000376104.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000398301.2_Missense_Mutation_p.A24V	p.A24V	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN			1	70	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000398301.2	37	c.71C>T		.	.	.	.	.	.	.	.	.	.	G	11.05	1.524335	0.27299	.	.	ENSG00000150672	ENST00000280241;ENST00000398301	T;T	0.24151	2.42;1.87	5.72	3.63	0.41609	.	.	.	.	.	T	0.11024	0.0269	N	0.08118	0	0.22940	N	0.998537	B	0.02656	0.0	B	0.04013	0.001	T	0.27739	-1.0065	8	.	.	.	.	4.4276	0.11511	0.2519:0.0:0.5723:0.1758	.	24	Q6ZSU2	.	V	24	ENSP00000280241:A24V;ENSP00000381346:A24V	.	A	-	2	0	DLG2	83705766	0.039000	0.19947	0.471000	0.27229	0.993000	0.82548	1.337000	0.33862	1.416000	0.47057	0.585000	0.79938	GCG		0.592	DLG2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000259244.2	NM_001364		9	380	0	0	0	1	0	9	380				
CLCN5	1184	broad.mit.edu	37	X	49854982	49854982	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chrX:49854982G>A	ENST00000307367.2	+	10	2035	c.1744G>A	c.(1744-1746)Gca>Aca	p.A582T	CLCN5_ENST00000376108.3_Missense_Mutation_p.A582T|CLCN5_ENST00000376091.3_Missense_Mutation_p.A652T|CLCN5_ENST00000376088.3_Missense_Mutation_p.A652T			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	582					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TAAGACCCTGGCAATGGATGT	0.478																																						ENST00000376088.3																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30						c.(1954-1956)Gca>Aca		chloride channel, voltage-sensitive 5							117.0	94.0	101.0					X																	49854982		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49854982G>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1744G>A	X.37:g.49854982G>A	ENSP00000304257:p.Ala582Thr					CLCN5_ENST00000376108.3_Missense_Mutation_p.A582T|CLCN5_ENST00000376091.3_Missense_Mutation_p.A652T|CLCN5_ENST00000307367.2_Missense_Mutation_p.A582T	p.A652T	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN			13	2595	+	Ovarian(276;0.236)		582					A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1954G>A	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967432	0.92855	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.78	5.78	0.91487	.	0.047471	0.85682	D	0.000000	D	0.92583	0.7644	M	0.93808	3.46	0.80722	D	1	P;B	0.36282	0.546;0.043	B;B	0.37387	0.248;0.011	D	0.93351	0.6718	10	0.62326	D	0.03	-5.2567	17.6538	0.88172	0.0:0.0:1.0:0.0	.	582;652	P51795;P51795-2	CLCN5_HUMAN;.	T	652;484;652;582;582	ENSP00000365256:A652T;ENSP00000365259:A652T;ENSP00000365276:A582T;ENSP00000304257:A582T	ENSP00000304257:A582T	A	+	1	0	CLCN5	49741722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	2.441000	0.82636	0.594000	0.82650	GCA		0.478	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			20	60	0	0	0	1	0	20	60				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000583206.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000584811.1_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T						TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron								7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		8	66	0	0	0	1	0	8	66				
CCDC142	84865	broad.mit.edu	37	2	74709264	74709264	+	Missense_Mutation	SNP	C	C	T	rs145805017		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr2:74709264C>T	ENST00000393965.3	-	1	1097	c.701G>A	c.(700-702)cGt>cAt	p.R234H	CCDC142_ENST00000471713.1_5'UTR|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|TTC31_ENST00000233623.5_5'Flank|CCDC142_ENST00000290418.4_Missense_Mutation_p.R234H	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	234										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GCGGAGCACACGGGACGTGGG	0.662																																						ENST00000393965.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						c.(700-702)cGt>cAt		coiled-coil domain containing 142		C	HIS/ARG	0,4402		0,0,2201	31.0	40.0	37.0		701	4.4	1.0	2	dbSNP_134	37	1,8597		0,1,4298	no	missense	CCDC142	NM_032779.3	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	234/744	74709264	1,12999	2201	4299	6500	SO:0001583	missense	84865							g.chr2:74709264C>T	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.701G>A	2.37:g.74709264C>T	ENSP00000377537:p.Arg234His					CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.R234H	p.R234H	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN			1	1097	-			234					B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Missense_Mutation	SNP	ENST00000393965.3	37	c.701G>A		.	.	.	.	.	.	.	.	.	.	C	20.9	4.070827	0.76301	0.0	1.16E-4	ENSG00000135637	ENST00000393965;ENST00000290418	D;D	0.83755	-1.76;-1.76	4.4	4.4	0.53042	.	0.000000	0.52532	D	0.000078	D	0.88658	0.6496	M	0.72118	2.19	0.36289	D	0.856307	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63703	0.917;0.917;0.917	D	0.91794	0.5446	10	0.87932	D	0	-12.2002	12.6538	0.56776	0.0:1.0:0.0:0.0	.	234;234;234	Q17RM4;Q17RM4-2;Q17RM4-3	CC142_HUMAN;.;.	H	234	ENSP00000377537:R234H;ENSP00000290418:R234H	ENSP00000290418:R234H	R	-	2	0	CCDC142	74562772	0.970000	0.33590	0.993000	0.49108	0.643000	0.38383	2.457000	0.45005	2.438000	0.82558	0.561000	0.74099	CGT		0.662	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		3	63	0	0	0	1	0	3	63				
AKAP8L	26993	broad.mit.edu	37	19	15514819	15514819	+	Splice_Site	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:15514819G>A	ENST00000397410.5	-	3	252		c.e3+1		AKAP8L_ENST00000595879.1_5'Flank|AKAP8L_ENST00000595465.2_Splice_Site	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATGACACTTGCCTCTATTTG	0.498																																						ENST00000397410.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						c.e3+1		A kinase (PRKA) anchor protein 8-like							129.0	138.0	135.0					19																	15514819		2010	4180	6190	SO:0001630	splice_region_variant	26993					cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	g.chr19:15514819G>A	BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.121+1C>T	19.37:g.15514819G>A						AKAP8L_ENST00000595136.1_Splice_Site|AKAP8L_ENST00000595465.1_Splice_Site		NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN			3	186	-								B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Splice_Site	SNP	ENST00000397410.5	37		CCDS46005.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151452	0.57151	.	.	ENSG00000011243	ENST00000397410	.	.	.	5.15	4.12	0.48240	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1706	0.48569	0.0882:0.0:0.9118:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AKAP8L	15375819	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	0.826000	0.27407	1.307000	0.44944	0.561000	0.74099	.		0.498	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461301.2	NM_014371	Intron	4	60	0	0	0	1	0	4	60				
TFAP2D	83741	broad.mit.edu	37	6	50683317	50683317	+	Missense_Mutation	SNP	C	C	A	rs573515296	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr6:50683317C>A	ENST00000008391.3	+	2	756	c.528C>A	c.(526-528)gaC>gaA	p.D176E		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGAGCAGACGACTTGCAGG	0.597													C|||	2	0.000399361	0.0	0.0	5008	,	,		13466	0.0		0.0	False		,,,				2504	0.002					ENST00000008391.3																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60						c.(526-528)gaC>gaA		transcription factor AP-2 delta (activating enhancer binding protein 2 delta)							45.0	52.0	50.0					6																	50683317		2154	4216	6370	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50683317C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.528C>A	6.37:g.50683317C>A	ENSP00000008391:p.Asp176Glu						p.D176E	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN			2	756	+	Lung NSC(77;0.0334)		176						Missense_Mutation	SNP	ENST00000008391.3	37	c.528C>A	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	6.813	0.519172	0.13005	.	.	ENSG00000008197	ENST00000008391	D	0.96967	-4.19	5.06	0.657	0.17850	.	0.423244	0.27231	N	0.020301	T	0.77391	0.4123	N	0.08118	0	0.58432	D	0.999996	B	0.02656	0.0	B	0.06405	0.002	T	0.69591	-0.5104	10	0.02654	T	1	0.0059	10.3774	0.44090	0.3839:0.4922:0.1239:0.0	.	176	Q7Z6R9	AP2D_HUMAN	E	176	ENSP00000008391:D176E	ENSP00000008391:D176E	D	+	3	2	TFAP2D	50791276	0.996000	0.38824	0.999000	0.59377	0.986000	0.74619	0.461000	0.21940	0.184000	0.20083	0.655000	0.94253	GAC		0.597	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		6	104	1	0	0.00829132	1	0.00847557	6	104				
KHDRBS1	10657	broad.mit.edu	37	1	32498905	32498905	+	Silent	SNP	C	C	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:32498905C>A	ENST00000327300.7	+	4	908	c.741C>A	c.(739-741)gcC>gcA	p.A247A	KHDRBS1_ENST00000492989.1_Silent_p.A208A|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGGCCCATGCCATGGAGGAAG	0.448																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(739-741)gcC>gcA		KH domain containing, RNA binding, signal transduction associated 1							120.0	115.0	117.0					1																	32498905		2203	4300	6503	SO:0001819	synonymous_variant	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32498905C>A	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.741C>A	1.37:g.32498905C>A						KHDRBS1_ENST00000307714.8_3'UTR|KHDRBS1_ENST00000492989.1_Silent_p.A208A	p.A247A	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN			4	908	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	247						Silent	SNP	ENST00000327300.7	37	c.741C>A	CCDS350.1																																																																																				0.448	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		3	65	1	0	1	1	1	3	65				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	53	0	0	0	1	0	3	53				
FPR2	2358	broad.mit.edu	37	19	52272349	52272349	+	Silent	SNP	C	C	T	rs200320548		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:52272349C>T	ENST00000598776.1	+	2	1210	c.438C>T	c.(436-438)atC>atT	p.I146I	FPR2_ENST00000598953.1_Silent_p.I146I|FPR2_ENST00000340023.6_Silent_p.I146I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	146					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGAAGGTGATCGTCGGACCTT	0.478													c|||	1	0.000199681	0.0008	0.0	5008	,	,		22842	0.0		0.0	False		,,,				2504	0.0					ENST00000598776.1																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(436-438)atC>atT		formyl peptide receptor 2							147.0	131.0	137.0					19																	52272349		2203	4300	6503	SO:0001819	synonymous_variant	2358				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52272349C>T	M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.438C>T	19.37:g.52272349C>T						FPR2_ENST00000598953.1_Silent_p.I146I|FPR2_ENST00000340023.6_Silent_p.I146I	p.I146I	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN			2	1210	+			146					A8K3E2	Silent	SNP	ENST00000598776.1	37	c.438C>T	CCDS12840.1																																																																																				0.478	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466912.2	NM_001005738		16	90	0	0	0	1	0	16	90				
POMK	84197	broad.mit.edu	37	8	42977872	42977872	+	Missense_Mutation	SNP	T	T	C	rs199756983		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr8:42977872T>C	ENST00000331373.5	+	5	1160	c.905T>C	c.(904-906)gTc>gCc	p.V302A		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN	protein-O-mannose kinase	302	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|carbohydrate phosphorylation (GO:0046835)|learning or memory (GO:0007611)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|protein O-linked glycosylation (GO:0006493)|sensory perception of pain (GO:0019233)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|carbohydrate kinase activity (GO:0019200)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)|protein kinase activity (GO:0004672)										AGTGATATGGTCCGATTCCAT	0.478																																						ENST00000331373.5																			0											c.(904-906)gTc>gCc									88.0	84.0	86.0					8																	42977872		2203	4300	6503	SO:0001583	missense	0					integral to membrane	ATP binding|protein kinase activity	g.chr8:42977872T>C		CCDS6141.1	8p11.21	2013-08-22			ENSG00000185900	ENSG00000185900			26267	protein-coding gene	gene with protein product		615247				16879967, 23519211	Standard	NM_001277971		Approved	FLJ23356, SgK196		Q9H5K3	OTTHUMG00000164100	ENST00000331373.5:c.905T>C	8.37:g.42977872T>C	ENSP00000331258:p.Val302Ala						p.V302A	NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN			5	1160	+			302			Protein kinase.			Missense_Mutation	SNP	ENST00000331373.5	37	c.905T>C	CCDS6141.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.097274	0.76870	.	.	ENSG00000185900	ENST00000331373	T	0.23147	1.92	5.45	5.45	0.79879	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059227	0.64402	D	0.000002	T	0.49098	0.1537	M	0.83012	2.62	0.53005	D	0.999967	D	0.69078	0.997	P	0.58970	0.849	T	0.54470	-0.8289	9	.	.	.	-11.0426	13.4612	0.61229	0.0:0.0:0.0:1.0	.	302	Q9H5K3	SG196_HUMAN	A	302	ENSP00000331258:V302A	.	V	+	2	0	AC113191.1	43097029	1.000000	0.71417	0.996000	0.52242	0.951000	0.60555	5.003000	0.63959	2.065000	0.61736	0.482000	0.46254	GTC		0.478	POMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377291.2	NM_032237		3	101	0	0	0	1	0	3	101				
CD5	921	broad.mit.edu	37	11	60886790	60886790	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr11:60886790G>A	ENST00000347785.3	+	5	714	c.548G>A	c.(547-549)gGt>gAt	p.G183D		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	183	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGCCTGGGGGGTACCATCAGC	0.612																																						ENST00000347785.3																			0				central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(547-549)gGt>gAt		CD5 molecule							56.0	61.0	59.0					11																	60886790		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60886790G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.548G>A	11.37:g.60886790G>A	ENSP00000342681:p.Gly183Asp						p.G183D	NM_014207.3	NP_055022.2	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	5	714	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	183			SRCR 2.		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.548G>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377197	0.82682	.	.	ENSG00000110448	ENST00000347785	T	0.36340	1.26	5.4	5.4	0.78164	Speract/scavenger receptor (1);	0.000000	0.56097	D	0.000021	T	0.56455	0.1986	L	0.58810	1.83	0.31014	N	0.718959	D	0.89917	1.0	D	0.83275	0.996	T	0.61594	-0.7031	10	0.87932	D	0	-31.067	14.6581	0.68850	0.0:0.0:1.0:0.0	.	183	P06127	CD5_HUMAN	D	183	ENSP00000342681:G183D	ENSP00000342681:G183D	G	+	2	0	CD5	60643366	0.995000	0.38212	0.115000	0.21578	0.280000	0.26924	4.620000	0.61226	2.518000	0.84900	0.609000	0.83330	GGT		0.612	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		5	108	0	0	0	1	0	5	108				
ADRB1	153	broad.mit.edu	37	10	115804259	115804259	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr10:115804259G>A	ENST00000369295.2	+	1	454	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	123					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|aging (GO:0007568)|apoptotic process (GO:0006915)|brown fat cell differentiation (GO:0050873)|diet induced thermogenesis (GO:0002024)|fear response (GO:0042596)|glycogen catabolic process (GO:0005980)|heat generation (GO:0031649)|lipid homeostasis (GO:0055088)|memory (GO:0007613)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of urine volume (GO:0035811)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cation channel activity (GO:2001259)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of saliva secretion (GO:0046878)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of the force of heart contraction by norepinephrine (GO:0003061)|protein localization to organelle (GO:0033365)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|response to cold (GO:0009409)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)|wound healing (GO:0042060)	early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|beta-adrenergic receptor activity (GO:0004939)|beta1-adrenergic receptor activity (GO:0004940)|dopamine binding (GO:0035240)|drug binding (GO:0008144)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|receptor signaling protein activity (GO:0005057)			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Asenapine(DB06216)|Atenolol(DB00335)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dobutamine(DB00841)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Esmolol(DB00187)|Fenoterol(DB01288)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Loxapine(DB00408)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Practolol(DB01297)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Salbutamol(DB01001)|Sotalol(DB00489)|Timolol(DB00373)|Trimipramine(DB00726)	GTGTGGGGCCGCTGGGAGTAC	0.652																																						ENST00000369295.2																			0				large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6						c.(367-369)cGc>cAc		adrenoceptor beta 1	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)						77.0	92.0	87.0					10																	115804259		2203	4300	6503	SO:0001583	missense	153				positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity	g.chr10:115804259G>A	J03019	CCDS7586.1	10q25.3	2012-08-08	2012-05-09		ENSG00000043591	ENSG00000043591		"""GPCR / Class A : Adrenoceptors : beta"""	285	protein-coding gene	gene with protein product		109630	"""adrenergic, beta-1-, receptor"""	ADRB1R			Standard	NM_000684		Approved		uc001lba.3	P08588	OTTHUMG00000019079	ENST00000369295.2:c.368G>A	10.37:g.115804259G>A	ENSP00000358301:p.Arg123His						p.R123H	NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN		Epithelial(162;0.0124)|all cancers(201;0.0298)	1	454	+		Colorectal(252;0.172)|Breast(234;0.188)	123					B0LPE2|Q5T5Y4|Q9UKG7|Q9UKG8	Missense_Mutation	SNP	ENST00000369295.2	37	c.368G>A	CCDS7586.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026014	0.54683	.	.	ENSG00000043591	ENST00000369295	T	0.72282	-0.64	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.466636	0.20773	U	0.085945	T	0.43188	0.1236	N	0.04636	-0.2	0.32260	N	0.570219	B	0.22146	0.065	B	0.22386	0.039	T	0.46569	-0.9182	10	0.18710	T	0.47	.	6.7114	0.23280	0.1045:0.2526:0.6429:0.0	.	123	P08588	ADRB1_HUMAN	H	123	ENSP00000358301:R123H	ENSP00000358301:R123H	R	+	2	0	ADRB1	115794249	0.153000	0.22777	1.000000	0.80357	0.988000	0.76386	1.343000	0.33930	1.835000	0.53391	0.436000	0.28706	CGC		0.652	ADRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050448.1			3	118	0	0	0	1	0	3	118				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	56	0	0	0	1	0	3	56				
NWD1	284434	broad.mit.edu	37	19	16910932	16910932	+	Missense_Mutation	SNP	T	T	C	rs138963732		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:16910932T>C	ENST00000552788.1	+	15	3695	c.3695T>C	c.(3694-3696)aTt>aCt	p.I1232T	CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000339803.6_Missense_Mutation_p.I1097T|NWD1_ENST00000379808.3_Missense_Mutation_p.I1232T|NWD1_ENST00000524140.2_Missense_Mutation_p.I1232T|NWD1_ENST00000549814.1_Missense_Mutation_p.I1190T|NWD1_ENST00000523826.1_Missense_Mutation_p.I1026T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1232							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						TTCCCCAAAATTGGGGACAAA	0.507																																						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.(3694-3696)aTt>aCt		NACHT and WD repeat domain containing 1		T	THR/ILE	0,4406		0,0,2203	91.0	80.0	84.0		3695	0.9	0.0	19	dbSNP_134	84	1,8599	1.2+/-3.3	0,1,4299	no	missense	NWD1	NM_001007525.3	89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	1232/1433	16910932	1,13005	2203	4300	6503	SO:0001583	missense	284434						ATP binding	g.chr19:16910932T>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.3695T>C	19.37:g.16910932T>C	ENSP00000447224:p.Ile1232Thr					NWD1_ENST00000552788.1_Missense_Mutation_p.I1232T|NWD1_ENST00000549814.1_Missense_Mutation_p.I1190T|NWD1_ENST00000379808.3_Missense_Mutation_p.I1232T|NWD1_ENST00000339803.6_Missense_Mutation_p.I1097T|NWD1_ENST00000523826.1_Missense_Mutation_p.I1026T	p.I1232T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			17	4113	+			1232					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.3695T>C		.	.	.	.	.	.	.	.	.	.	T	2.486	-0.318473	0.05386	0.0	1.16E-4	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.69926	0.46;-0.44;0.46;2.27;0.5;2.27	5.35	0.885	0.19188	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.621357	0.15666	N	0.250651	T	0.41305	0.1153	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.10450	0.001;0.003;0.005	T	0.20706	-1.0267	10	0.21540	T	0.41	-2.6828	8.8823	0.35382	0.0:0.4189:0.0:0.5811	.	1232;1232;1097	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	1097;1232;1190;1232;1026;1232;1097	ENSP00000428579:I1232T;ENSP00000447548:I1190T;ENSP00000369136:I1232T;ENSP00000428955:I1026T;ENSP00000447224:I1232T;ENSP00000340159:I1097T	ENSP00000340159:I1097T	I	+	2	0	NWD1	16771932	0.001000	0.12720	0.001000	0.08648	0.923000	0.55619	0.461000	0.21940	-0.187000	0.10516	-0.925000	0.02716	ATT		0.507	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		35	87	0	0	0	1	0	35	87				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	85	0	0	0	1	0	6	85				
MTTP	4547	broad.mit.edu	37	4	100532612	100532612	+	Splice_Site	SNP	T	T	C			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr4:100532612T>C	ENST00000265517.5	+	14	2192		c.e14+2		RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Splice_Site|MTTP_ENST00000511045.1_Splice_Site			P55157	MTP_HUMAN	microsomal triglyceride transfer protein						cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GGTAGCCAGGTAACTCACTTC	0.398																																						ENST00000457717.1																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.e15+2		microsomal triglyceride transfer protein	Hesperetin(DB01094)						132.0	122.0	125.0					4																	100532612		2203	4300	6503	SO:0001630	splice_region_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100532612T>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1989+2T>C	4.37:g.100532612T>C						MTTP_ENST00000265517.5_Splice_Site|MTTP_ENST00000511045.1_Splice_Site|RP11-766F14.1_ENST00000508578.1_RNA		NM_000253.2	NP_000244.2	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	15	2245	+								A8K428|Q08AM4|Q6P5T3	Splice_Site	SNP	ENST00000265517.5	37		CCDS3651.1	.	.	.	.	.	.	.	.	.	.	T	14.38	2.518726	0.44763	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8181	0.78621	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTTP	100751635	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	6.995000	0.76257	2.139000	0.66308	0.533000	0.62120	.		0.398	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		Intron	4	145	0	0	0	1	0	4	145				
ADSS	159	broad.mit.edu	37	1	244582071	244582071	+	Silent	SNP	C	C	T			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:244582071C>T	ENST00000366535.3	-	9	1252	c.936G>A	c.(934-936)gaG>gaA	p.E312E	ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CATTGTCTTGCTCTGTAGGAA	0.338																																						ENST00000366535.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(934-936)gaG>gaA		adenylosuccinate synthase	L-Aspartic Acid(DB00128)						92.0	85.0	87.0					1																	244582071		2203	4300	6503	SO:0001819	synonymous_variant	159				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr1:244582071C>T	BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.936G>A	1.37:g.244582071C>T							p.E312E	NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		9	1252	-	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	312						Silent	SNP	ENST00000366535.3	37	c.936G>A	CCDS1624.1																																																																																				0.338	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126		4	67	0	0	0	1	0	4	67				
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						ENST00000392092.2																			4	Substitution - coding silent(4)	p.Q76Q(4)	lung(3)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(226-228)caG>caA		TATA box binding protein							14.0	19.0	17.0					6																	170871052		1952	3842	5794	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871052G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A						TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q	p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	507	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	76			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.228G>A	CCDS5315.1																																																																																				0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	46	0	0	0	1	0	3	46				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	298	0	0	0	1	0	4	298				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000382293.3_Silent_p.E877E	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		4	177	0	0	0	1	0	4	177				
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	lincRNA	SNP	T	T	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803552T>A																													1.37:g.142803552T>A														0	1413	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			8	205	0	0	0	1	0	8	205				
MN1	4330	broad.mit.edu	37	22	28194072	28194072	+	Silent	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr22:28194072G>A	ENST00000302326.4	-	1	3414	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	820					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						AGCTCTGGCCGAACAGGTTGT	0.632			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2458-2460)ttC>ttT		meningioma (disrupted in balanced translocation) 1							41.0	47.0	45.0					22																	28194072		1946	4136	6082	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194072G>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2460C>T	22.37:g.28194072G>A							p.F820F	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3414	-			820					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2460C>T	CCDS42998.1																																																																																				0.632	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		3	80	0	0	0	1	0	3	80				
FAM218A	152756	broad.mit.edu	37	4	165878576	165878576	+	Silent	SNP	T	T	C			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr4:165878576T>C	ENST00000513876.2	+	1	477	c.402T>C	c.(400-402)ccT>ccC	p.P134P	TRIM61_ENST00000329314.5_Intron	NM_153027.1	NP_694572.1	Q96MZ4	F218A_HUMAN	family with sequence similarity 218, member A	134																	GGTCCCAGCCTCTTTTTGTGA	0.572																																						ENST00000513876.2																			0											c.(400-402)ccT>ccC		family with sequence similarity 218, member A							73.0	74.0	74.0					4																	165878576		2203	4300	6503	SO:0001819	synonymous_variant	152756							g.chr4:165878576T>C	AK056221	CCDS3807.1	4q32.3	2012-03-01	2012-03-01	2012-03-01	ENSG00000250486	ENSG00000250486			26466	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 39"""	C4orf39		12477932	Standard	NM_153027		Approved	FLJ31659	uc003iqx.1	Q96MZ4	OTTHUMG00000161252	ENST00000513876.2:c.402T>C	4.37:g.165878576T>C						TRIM61_ENST00000329314.5_Intron	p.P134P	NM_153027.1	NP_694572.1	Q96MZ4	CD039_HUMAN			1	477	+			134						Silent	SNP	ENST00000513876.2	37	c.402T>C	CCDS3807.1																																																																																				0.572	FAM218A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364308.1	NM_153027		3	75	0	0	0	1	0	3	75				
MAP2K6	5608	broad.mit.edu	37	17	67515461	67515461	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr17:67515461G>C	ENST00000590474.1	+	5	541	c.254G>C	c.(253-255)cGa>cCa	p.R85P	MAP2K6_ENST00000589647.1_Missense_Mutation_p.R29P	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CAGCGGATCCGAGCCACAGTA	0.468																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(253-255)cGa>cCa		mitogen-activated protein kinase kinase 6							121.0	114.0	116.0					17																	67515461		2203	4300	6503	SO:0001583	missense	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67515461G>C	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.254G>C	17.37:g.67515461G>C	ENSP00000468348:p.Arg85Pro					MAP2K6_ENST00000589647.1_Missense_Mutation_p.R29P	p.R85P	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			5	541	+	Breast(10;6.05e-10)		85			Protein kinase.			Missense_Mutation	SNP	ENST00000590474.1	37	c.254G>C	CCDS11686.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.270694	0.59540	.	.	ENSG00000108984	ENST00000359094	.	.	.	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	N	0.13272	0.32	0.54753	D	0.999983	P;B;B	0.35208	0.49;0.142;0.142	B;B;B	0.35073	0.195;0.13;0.13	T	0.17319	-1.0373	8	.	.	.	-8.3415	17.5131	0.87765	0.0:0.0:1.0:0.0	.	115;85;85	Q6MZH7;P52564;A8K3Y2	.;MP2K6_HUMAN;.	P	85	.	.	R	+	2	0	MAP2K6	65027056	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	9.743000	0.98849	2.809000	0.96659	0.655000	0.94253	CGA		0.468	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		31	85	0	0	0	1	0	31	85				
YLPM1	56252	broad.mit.edu	37	14	75276498	75276498	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr14:75276498G>A	ENST00000552421.1	+	6	2943	c.2819G>A	c.(2818-2820)cGa>cAa	p.R940Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R1646Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.R1451Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1451	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCATGGCCGAGGTGAGTAA	0.468																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4936-4938)cGa>cAa		YLP motif containing 1							54.0	50.0	51.0					14																	75276498		1956	4152	6108	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75276498G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.2819G>A	14.37:g.75276498G>A	ENSP00000447921:p.Arg940Gln					YLPM1_ENST00000238571.3_Missense_Mutation_p.R1451Q|YLPM1_ENST00000552421.1_Missense_Mutation_p.R940Q	p.R1646Q	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	7	5061	+			1451					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.4937G>A		.	.	.	.	.	.	.	.	.	.	G	23.0	4.360574	0.82353	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.32	5.32	0.75619	.	0.000000	0.47455	D	0.000231	T	0.61899	0.2384	L	0.29908	0.895	0.42711	D	0.993646	D;D	0.76494	0.998;0.999	P;D	0.64144	0.867;0.922	T	0.61048	-0.7141	9	0.38643	T	0.18	-7.0676	13.3266	0.60463	0.076:0.0:0.924:0.0	.	1451;1646	P49750-3;P49750-4	.;.	Q	940;1646;1451;1359;55	.	ENSP00000238571:R1451Q	R	+	2	0	YLPM1	74346251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.605000	0.67634	2.472000	0.83506	0.591000	0.81541	CGA		0.468	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		3	55	0	0	0	1	0	3	55				
TUBBP5	643224	broad.mit.edu	37	9	141070069	141070069	+	RNA	SNP	C	C	T	rs370794960		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr9:141070069C>T	ENST00000503395.1	+	0	1149									tubulin, beta pseudogene 5																		GGTACGTGCCCCGCGCTGTGC	0.711																																						ENST00000503395.1																			0																																																			0							g.chr9:141070069C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070069C>T														0	1149	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.711	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		3	74	0	0	0	1	0	3	74				
ITIH6	347365	broad.mit.edu	37	X	54783712	54783712	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chrX:54783712G>A	ENST00000218436.6	-	8	2824	c.2795C>T	c.(2794-2796)aCt>aTt	p.T932I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	932	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CAGAGTGGGAGTAAAGGGCAT	0.567																																						ENST00000218436.6																			0											c.(2794-2796)aCt>aTt		inter-alpha-trypsin inhibitor heavy chain family, member 6							67.0	62.0	64.0					X																	54783712		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783712G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2795C>T	X.37:g.54783712G>A	ENSP00000218436:p.Thr932Ile						p.T932I	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2824	-			932			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2795C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	1.350	-0.591704	0.03799	.	.	ENSG00000102313	ENST00000218436	T	0.02446	4.29	3.78	0.712	0.18167	.	1.151990	0.07429	N	0.895352	T	0.01730	0.0055	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47886	-0.9082	10	0.45353	T	0.12	.	3.5149	0.07721	0.27:0.0:0.5028:0.2272	.	932	Q6UXX5	ITH5L_HUMAN	I	932	ENSP00000218436:T932I	ENSP00000218436:T932I	T	-	2	0	ITIH5L	54800437	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	0.204000	0.17335	0.076000	0.16826	-0.293000	0.09583	ACT		0.567	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		3	69	0	0	0	1	0	3	69				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	114	0	0	0	1	0	4	114				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	295	0	0	0	1	0	4	295				
TBP	6908	broad.mit.edu	37	6	170871070	170871070	+	Silent	SNP	G	G	A			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr6:170871070G>A	ENST00000392092.2	+	3	525	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TBP_ENST00000230354.6_Silent_p.Q82Q|TBP_ENST00000540980.1_Silent_p.Q62Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	82	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(244-246)caG>caA		TATA box binding protein							11.0	17.0	15.0					6																	170871070		1946	3845	5791	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871070G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.246G>A	6.37:g.170871070G>A						TBP_ENST00000230354.6_Silent_p.Q82Q|TBP_ENST00000540980.1_Silent_p.Q62Q	p.Q82Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	525	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	82			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.246G>A	CCDS5315.1																																																																																				0.587	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	48	0	0	0	1	0	3	48				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		30	84	0	0	0	1	0	30	84				
WFDC3	140686	broad.mit.edu	37	20	44417689	44417689	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr20:44417689C>G	ENST00000243938.4	-	3	175	c.92G>C	c.(91-93)gGa>gCa	p.G31A	WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000372632.2_Missense_Mutation_p.G31A|DNTTIP1_ENST00000372622.3_5'Flank	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	31	WAP 1. {ECO:0000255|PROSITE- ProRule:PRU00722}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AGGGCATTCTCCCTCTTTTGC	0.517																																						ENST00000243938.4																			0				endometrium(1)|large_intestine(3)|prostate(1)	5						c.(91-93)gGa>gCa		WAP four-disulfide core domain 3							171.0	159.0	163.0					20																	44417689		2203	4300	6503	SO:0001583	missense	140686					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44417689C>G	AL050348	CCDS33478.1	20q13.12	2013-01-21			ENSG00000124116	ENSG00000124116		"""WAP four-disulfide core domain containing"""	15957	protein-coding gene	gene with protein product						12206714, 10680116	Standard	NM_080614		Approved	dJ447F3.3, WAP14	uc002xpf.1	Q8IUB2	OTTHUMG00000032614	ENST00000243938.4:c.92G>C	20.37:g.44417689C>G	ENSP00000243938:p.Gly31Ala					WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_Intron|WFDC3_ENST00000372632.2_Missense_Mutation_p.G31A	p.G31A	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN			3	175	-		Myeloproliferative disorder(115;0.0122)	31			WAP 1.		A6PVF2|Q0P6A5|Q3T1C5|Q8TC52|Q9BQP3|Q9BQP4	Missense_Mutation	SNP	ENST00000243938.4	37	c.92G>C	CCDS33478.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.69|11.69	1.713486|1.713486	0.30413|0.30413	.|.	.|.	ENSG00000124116|ENSG00000124116	ENST00000337205|ENST00000243938;ENST00000372632	.|T;T	.|0.54071	.|0.59;0.59	4.58|4.58	2.63|2.63	0.31362|0.31362	.|Whey acidic protein, 4-disulphide core (5);4-disulphide core (1);	.|0.000000	.|0.31484	.|N	.|0.007571	T|T	0.74023|0.74023	0.3662|0.3662	H|H	0.95611|0.95611	3.695|3.695	0.58432|0.58432	D|D	0.999992|0.999992	.|D	.|0.67145	.|0.996	.|P	.|0.61800	.|0.894	T|T	0.75113|0.75113	-0.3432|-0.3432	5|10	.|0.87932	.|D	.|0	-1.6036|-1.6036	7.1316|7.1316	0.25504|0.25504	0.0:0.7872:0.0:0.2128|0.0:0.7872:0.0:0.2128	.|.	.|31	.|Q8IUB2	.|WFDC3_HUMAN	Q|A	25|31	.|ENSP00000243938:G31A;ENSP00000361715:G31A	.|ENSP00000243938:G31A	E|G	-|-	1|2	0|0	WFDC3|WFDC3	43851096|43851096	0.066000|0.066000	0.20996|0.20996	0.968000|0.968000	0.41197|0.41197	0.986000|0.986000	0.74619|0.74619	0.547000|0.547000	0.23299|0.23299	0.484000|0.484000	0.27630|0.27630	0.643000|0.643000	0.83706|0.83706	GAG|GGA		0.517	WFDC3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316858.1			4	205	0	0	0	1	0	4	205				
MKRN1	23608	broad.mit.edu	37	7	140179061	140179061	+	Frame_Shift_Del	DEL	G	G	-	rs542039727	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr7:140179061delG	ENST00000255977.2	-	1	308	c.84delC	c.(82-84)cccfs	p.P28fs	MKRN1_ENST00000437223.2_5'UTR|MKRN1_ENST00000474576.1_5'Flank|MKRN1_ENST00000480552.1_5'Flank|MKRN1_ENST00000481705.1_5'UTR|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.P28fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	28					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GGATCGGGGTGGGGGAGgctg	0.701																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(82-84)ccfs		makorin ring finger protein 1			,	17,3399		7,3,1698	5.0	5.0	5.0		,	1.7	1.0	7		5	46,6438		21,4,3217	no	frameshift,frameshift	MKRN1	NM_013446.3,NM_001145125.1	,	28,7,4915	A1A1,A1R,RR		0.7094,0.4977,0.6364	,	,	140179061	63,9837	1883	3590	5473	SO:0001589	frameshift_variant	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140179061delG	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.84delC	7.37:g.140179061delG	ENSP00000255977:p.Pro28fs					MKRN1_ENST00000437223.2_5'UTR|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.P28fs|MKRN1_ENST00000481705.1_5'UTR	p.P28fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			1	308	-	Melanoma(164;0.00956)		28					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Frame_Shift_Del	DEL	ENST00000255977.2	37	c.84delC	CCDS5860.1																																																																																				0.701	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		2	4						2	4	---	---	---	---
RP11-493L12.5	0	broad.mit.edu	37	12	47761313	47761314	+	lincRNA	INS	-	-	T	rs397801707|rs201148896|rs11419253	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr12:47761313_47761314insT	ENST00000550019.1	+	0	262																											ttcgctctctattttttttttt	0.406													|||unknown(HR)	3540	0.706869	0.5461	0.6888	5008	,	,		19745	0.8621		0.7624	False		,,,				2504	0.7198					ENST00000550019.1																			0																																																			0							g.chr12:47761313_47761314insT																													12.37:g.47761324_47761324dupT														0	262	+									RNA	INS	ENST00000550019.1	37																																																																																						0.406	RP11-493L12.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000405335.1			8	2						8	2	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000359320.3_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000382809.2_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			7	227						7	227	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		7	267						7	267	---	---	---	---
SYNDIG1	79953	broad.mit.edu	37	20	24524183	24524185	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DJ-A3UQ-01A-11D-A22D-08	TCGA-DJ-A3UQ-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73fc8e6f-827f-417a-a19d-3d473a02c8d5	0c50a2f6-1a1e-4ebb-ada3-b63c5b751cf3	g.chr20:24524183_24524185delGGA	ENST00000376862.3	+	2	1083_1085	c.450_452delGGA	c.(448-453)gtggag>gtg	p.E155del		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	155	Poly-Glu.				intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTACGATGTGGAGGAGGAGGAG	0.547																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(448-453)gtg>gt		synapse differentiation inducing 1																																				SO:0001651	inframe_deletion	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524183_24524185delGGA	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.450_452delGGA	20.37:g.24524192_24524194delGGA	ENSP00000366058:p.Glu155del						p.VE150del	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	1083_1085	+			150					Q6IA30|Q9H514	In_Frame_Del	DEL	ENST00000376862.3	37	c.450_452delGGA	CCDS13164.1																																																																																				0.547	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		7	345						7	345	---	---	---	---
