#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
CERS6	253782	broad.mit.edu	37	2	169547576	169547576	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:169547576G>C	ENST00000305747.6	+	5	1085	c.498G>C	c.(496-498)tgG>tgC	p.W166C	CERS6_ENST00000392687.4_Missense_Mutation_p.W166C	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	166	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGCATTGCTGGTACAACTACC	0.388																																						ENST00000305747.6																			0											c.(496-498)tgG>tgC		ceramide synthase 6							155.0	157.0	156.0					2																	169547576		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169547576G>C	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.498G>C	2.37:g.169547576G>C	ENSP00000306579:p.Trp166Cys					CERS6_ENST00000392687.4_Missense_Mutation_p.W166C	p.W166C	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			5	1085	+			166			TLC.		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.498G>C	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063957	0.76187	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.86366	-2.11;-2.11	5.94	5.94	0.96194	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.96012	0.8701	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96728	0.9537	10	0.87932	D	0	-34.7055	19.1451	0.93461	0.0:0.0:1.0:0.0	.	166;166	Q32M63;Q6ZMG9	.;CERS6_HUMAN	C	166	ENSP00000306579:W166C;ENSP00000376453:W166C	ENSP00000306579:W166C	W	+	3	0	CERS6	169255822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.139000	0.89615	2.820000	0.97059	0.650000	0.86243	TGG		0.388	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		3	96	0	0	0	6.4e-05	0	3	96				
NGFRAP1	27018	broad.mit.edu	37	X	102632596	102632596	+	Silent	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:102632596G>C	ENST00000372645.3	+	3	504	c.177G>C	c.(175-177)ggG>ggC	p.G59G	NGFRAP1_ENST00000299872.7_Silent_p.G59G|NGFRAP1_ENST00000361298.4_Silent_p.G49G|NGFRAP1_ENST00000372635.1_Silent_p.G59G|NGFRAP1_ENST00000372634.1_Silent_p.G49G			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)	p.G59A(1)|p.G59G(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCAATGATGGGATGGGTGGAG	0.502																																						ENST00000361298.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.G59A(1)|p.G59G(1)	lung(2)	NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(145-147)ggG>ggC		nerve growth factor receptor (TNFRSF16) associated protein 1							191.0	181.0	184.0					X																	102632596		2203	4300	6503	SO:0001819	synonymous_variant	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632596G>C	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.177G>C	X.37:g.102632596G>C						NGFRAP1_ENST00000372634.1_Silent_p.G49G|NGFRAP1_ENST00000372645.3_Silent_p.G59G|NGFRAP1_ENST00000299872.7_Silent_p.G59G|NGFRAP1_ENST00000372635.1_Silent_p.G59G	p.G49G	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN			3	512	+			59					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Silent	SNP	ENST00000372645.3	37	c.147G>C	CCDS14508.1																																																																																				0.502	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		10	243	0	0	0	0.000673444	0	10	243				
DOCK11	139818	broad.mit.edu	37	X	117815662	117815662	+	Silent	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117815662T>C	ENST00000276202.7	+	51	5931	c.5868T>C	c.(5866-5868)aaT>aaC	p.N1956N	DOCK11_ENST00000276204.6_Silent_p.N1956N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1956	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATAGGTCAATGCTGGTCCAT	0.338																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5866-5868)aaT>aaC		dedicator of cytokinesis 11							136.0	124.0	128.0					X																	117815662		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117815662T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5868T>C	X.37:g.117815662T>C						DOCK11_ENST00000276202.7_Silent_p.N1956N	p.N1956N			Q5JSL3	DOC11_HUMAN			51	5942	+			1956			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.5868T>C	CCDS35373.1																																																																																				0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		21	106	0	0	0	0.00278032	0	21	106				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			4	75	0	0	0	0.00024832	0	4	75				
ADCY3	109	broad.mit.edu	37	2	25061434	25061434	+	Missense_Mutation	SNP	C	C	A	rs577337871		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:25061434C>A	ENST00000260600.5	-	7	2264	c.1413G>T	c.(1411-1413)gaG>gaT	p.E471D	ADCY3_ENST00000405392.1_Missense_Mutation_p.E104D	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	471					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CATCGCCTGGCTCCACATCAA	0.577																																						ENST00000260600.5																			0				NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44						c.(1411-1413)gaG>gaT		adenylate cyclase 3							152.0	150.0	151.0					2																	25061434		2203	4300	6503	SO:0001583	missense	109				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	g.chr2:25061434C>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.1413G>T	2.37:g.25061434C>A	ENSP00000260600:p.Glu471Asp					ADCY3_ENST00000405392.1_Missense_Mutation_p.E104D	p.E471D	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN			7	2264	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		471					B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	ENST00000260600.5	37	c.1413G>T	CCDS1715.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526425	0.44969	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000454027;ENST00000427849;ENST00000435135	T;D;T;T;T	0.88741	-1.48;-2.42;-1.48;-1.48;-1.48	5.3	3.46	0.39613	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.85682	D	0.000000	D	0.93805	0.8019	M	0.82132	2.575	0.39024	D	0.959798	D;D;D	0.89917	0.992;0.992;1.0	D;D;D	0.91635	0.994;0.994;0.999	D	0.93431	0.6785	10	0.87932	D	0	.	11.944	0.52918	0.0:0.7902:0.0:0.2098	.	471;471;104	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	D	471;104;446;97;227;421	ENSP00000260600:E471D;ENSP00000384484:E104D;ENSP00000410120:E97D;ENSP00000399275:E227D;ENSP00000389799:E421D	ENSP00000260600:E471D	E	-	3	2	ADCY3	24914938	1.000000	0.71417	0.993000	0.49108	0.215000	0.24574	2.058000	0.41374	0.214000	0.20742	-0.797000	0.03246	GAG		0.577	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2			5	149	1	0	0.00198382	0.00198382	0.00629349	5	149				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		4	56	0	0	0	0.00024832	0	4	56				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			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.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	62	0	0	0	0.000602214	0	4	62				
LPAR4	2846	broad.mit.edu	37	X	78010703	78010703	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:78010703A>G	ENST00000435339.3	+	2	723	c.337A>G	c.(337-339)Atc>Gtc	p.I113V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	113					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCTGCAAGATCTCTGGAAC	0.428																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(337-339)Atc>Gtc		lysophosphatidic acid receptor 4							170.0	140.0	150.0					X																	78010703		2203	4299	6502	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010703A>G	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.337A>G	X.37:g.78010703A>G	ENSP00000408205:p.Ile113Val					LPAR4_ENST00000373301.2_Missense_Mutation_p.I113V	p.I113V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	742	+			113					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.337A>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	A	6.541	0.468165	0.12461	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37411	1.2;1.2	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.079753	0.52532	D	0.000072	T	0.27134	0.0665	L	0.28504	0.86	0.40862	D	0.983846	B	0.13594	0.008	B	0.20577	0.03	T	0.07927	-1.0747	10	0.39692	T	0.17	.	11.3846	0.49778	1.0:0.0:0.0:0.0	.	113	Q99677	LPAR4_HUMAN	V	113	ENSP00000408205:I113V;ENSP00000362398:I113V	ENSP00000362398:I113V	I	+	1	0	LPAR4	77897359	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.576000	0.60915	1.561000	0.49584	0.345000	0.21793	ATC		0.428	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		4	148	0	0	0	0.000602214	0	4	148				
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662													a|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.001					ENST00000380095.1																			1	Substitution - Missense(1)	p.T55A(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(163-165)Acg>Gcg		keratin associated protein 10-10							56.0	62.0	60.0					21																	46057497		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057497A>G	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.163A>G	21.37:g.46057497A>G	ENSP00000369438:p.Thr55Ala					TSPEAR_ENST00000323084.4_Intron	p.T55A	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	225	+			55			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.163A>G	CCDS33585.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	0.001	-3.777528	0.00004	.	.	ENSG00000221859	ENST00000380095	T	0.00976	5.48	1.05	-1.25	0.09405	.	.	.	.	.	T	0.00356	0.0011	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	3.9159	0.09222	0.1957:0.4879:0.3163:0.0	rs377408	55	P60014	KR10A_HUMAN	A	55	ENSP00000369438:T55A	ENSP00000369438:T55A	T	+	1	0	KRTAP10-10	44881925	0.000000	0.05858	0.062000	0.19696	0.039000	0.13416	0.043000	0.13971	-0.506000	0.06558	-0.741000	0.03529	ACG		0.662	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		3	111	0	0	0	6.4e-05	0	3	111				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		60	109	0	0	0	0.00361006	0	60	109				
CFHR5	81494	broad.mit.edu	37	1	196964999	196964999	+	Nonsense_Mutation	SNP	G	G	T	rs201472916		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr1:196964999G>T	ENST00000256785.4	+	5	869	c.760G>T	c.(760-762)Gga>Tga	p.G254*	CFHR5_ENST00000367414.5_Nonsense_Mutation_p.G278*			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	254	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGTGTGGATGGAGAATGGAC	0.308																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(832-834)Gga>Tga		complement factor H-related 5							88.0	96.0	93.0					1																	196964999		2203	4300	6503	SO:0001587	stop_gained	81494				complement activation, alternative pathway	extracellular region		g.chr1:196964999G>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.760G>T	1.37:g.196964999G>T	ENSP00000256785:p.Gly254*					CFHR5_ENST00000256785.4_Nonsense_Mutation_p.G254*	p.G278*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			5	888	+			254			Sushi 5.		Q2NKK2	Nonsense_Mutation	SNP	ENST00000256785.4	37	c.832G>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433947	0.62955	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.838	0.46698	0.0:0.0:1.0:0.0	.	.	.	.	X	278;254	.	ENSP00000256785:G254X	G	+	1	0	CFHR5	195231622	1.000000	0.71417	0.435000	0.26784	0.052000	0.14988	3.147000	0.50639	1.670000	0.50864	0.544000	0.68410	GGA		0.308	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		4	37	1	0	0.000602214	0.000602214	0.0019787	4	37				
ZNF804B	219578	broad.mit.edu	37	7	88965206	88965206	+	Silent	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr7:88965206A>G	ENST00000333190.4	+	4	3519	c.2910A>G	c.(2908-2910)tcA>tcG	p.S970S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	970							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCACCATCAGGCTGTAACA	0.408										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2908-2910)tcA>tcG		zinc finger protein 804B							111.0	111.0	111.0					7																	88965206		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88965206A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2910A>G	7.37:g.88965206A>G		HNSCC(36;0.09)					p.S970S	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3519	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		970					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.2910A>G	CCDS5613.1																																																																																				0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		3	98	0	0	0	0.00024832	0	3	98				
THOC1	9984	broad.mit.edu	37	18	246403	246403	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:246403T>C	ENST00000261600.6	-	11	846	c.839A>G	c.(838-840)cAg>cGg	p.Q280R	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	280					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTGAGGCCTGAGTATCATC	0.269																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(838-840)cAg>cGg		THO complex 1							46.0	47.0	46.0					18																	246403		1786	4048	5834	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:246403T>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.839A>G	18.37:g.246403T>C	ENSP00000261600:p.Gln280Arg					THOC1_ENST00000582313.1_5'UTR	p.Q280R	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			11	846	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	280					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.839A>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253312	0.22965	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	N	0.13235	0.315	0.58432	D	0.999999	B;D	0.57571	0.2;0.98	B;P	0.55577	0.069;0.779	T	0.38222	-0.9671	9	0.05620	T	0.96	-10.0384	16.1668	0.81768	0.0:0.0:0.0:1.0	.	280;280	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	R	280	.	ENSP00000261600:Q280R	Q	-	2	0	THOC1	236403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.210000	0.71456	0.533000	0.62120	CAG		0.269	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		3	61	0	0	0	0.00024832	0	3	61				
WNT5B	81029	broad.mit.edu	37	12	1741882	1741882	+	Missense_Mutation	SNP	G	G	A	rs138238149		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr12:1741882G>A	ENST00000397196.2	+	3	371	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	WNT5B_ENST00000310594.3_Missense_Mutation_p.V47M|WNT5B_ENST00000542408.1_Missense_Mutation_p.V47M|WNT5B_ENST00000537031.1_Missense_Mutation_p.V47M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	47					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCCCAGCCCGTGTGCAGTCA	0.567																																						ENST00000397196.2																			0				skin(1)	1						c.(139-141)Gtg>Atg		wingless-type MMTV integration site family, member 5B							102.0	106.0	105.0					12																	1741882		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1741882G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.139G>A	12.37:g.1741882G>A	ENSP00000380379:p.Val47Met					WNT5B_ENST00000542408.1_Missense_Mutation_p.V47M|WNT5B_ENST00000537031.1_Missense_Mutation_p.V47M|WNT5B_ENST00000310594.3_Missense_Mutation_p.V47M	p.V47M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	371	+	Ovarian(42;0.107)		47					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.139G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693665	0.48202	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.3	5.3	0.74995	.	0.240720	0.34750	N	0.003712	T	0.51601	0.1684	N	0.04655	-0.195	0.47659	D	0.999489	B	0.26577	0.153	B	0.26770	0.073	T	0.52525	-0.8564	10	0.10902	T	0.67	.	14.5596	0.68126	0.0:0.146:0.854:0.0	.	47	Q9H1J7	WNT5B_HUMAN	M	47	ENSP00000438414:V47M;ENSP00000445395:V47M;ENSP00000439312:V47M;ENSP00000308887:V47M;ENSP00000380379:V47M;ENSP00000442348:V47M;ENSP00000440600:V47M	ENSP00000308887:V47M	V	+	1	0	WNT5B	1612143	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.380000	0.52448	2.475000	0.83589	0.557000	0.71058	GTG		0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			19	120	0	0	0	0.00121646	0	19	120				
KLHL13	90293	broad.mit.edu	37	X	117053625	117053625	+	Silent	SNP	G	G	A	rs75572880		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chrX:117053625G>A	ENST00000262820.3	-	4	1338	c.429C>T	c.(427-429)gtC>gtT	p.V143V	KLHL13_ENST00000371878.1_Silent_p.V92V|KLHL13_ENST00000541812.1_Silent_p.V127V|KLHL13_ENST00000371876.1_Silent_p.V92V|KLHL13_ENST00000540167.1_Silent_p.V127V|KLHL13_ENST00000545703.1_Silent_p.V101V|KLHL13_ENST00000539496.1_Silent_p.V146V|KLHL13_ENST00000469946.1_Silent_p.V92V|KLHL13_ENST00000371882.1_Silent_p.V92V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	143	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTTAGACCGACTTTGCTCA	0.343																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(274-276)gtC>gtT		kelch-like family member 13							67.0	68.0	67.0					X																	117053625		2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117053625G>A	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.429C>T	X.37:g.117053625G>A						KLHL13_ENST00000545703.1_Silent_p.V101V|KLHL13_ENST00000541812.1_Silent_p.V127V|KLHL13_ENST00000371878.1_Silent_p.V92V|KLHL13_ENST00000371882.1_Silent_p.V92V|KLHL13_ENST00000262820.3_Silent_p.V143V|KLHL13_ENST00000539496.1_Silent_p.V146V|KLHL13_ENST00000540167.1_Silent_p.V127V|KLHL13_ENST00000469946.1_Silent_p.V92V	p.V92V			Q9P2N7	KLH13_HUMAN			3	2697	-			143			BTB.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.276C>T	CCDS14571.1																																																																																				0.343	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		4	78	0	0	0	0.00116845	0	4	78				
CHEK2P2	646096	broad.mit.edu	37	15	20496765	20496765	+	RNA	SNP	G	G	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr15:20496765G>T	ENST00000555186.1	+	0	818					NR_038836.1				checkpoint kinase 2 pseudogene 2																		GTTTTTTATAGTGTGTATTTT	0.358																																						ENST00000555186.1																			0																																																			0							g.chr15:20496765G>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496765G>T								NR_038836.1						0	818	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.358	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		6	28	1	0	4.096e-09	0.00116845	1.44935e-08	6	28				
FKRP	79147	broad.mit.edu	37	19	47259967	47259967	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr19:47259967C>G	ENST00000318584.5	+	4	1557	c.1260C>G	c.(1258-1260)ttC>ttG	p.F420L	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.F420L	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	420					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TGTGGCCCTTCTACCCCCGCA	0.627																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1258-1260)ttC>ttG		fukutin related protein							89.0	50.0	64.0					19																	47259967		2203	4300	6503	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259967C>G	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1260C>G	19.37:g.47259967C>G	ENSP00000326570:p.Phe420Leu					FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.F420L	p.F420L	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	1557	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	420					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.1260C>G	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763224	0.69763	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99637	-6.29;-6.29	5.15	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	M	0.62723	1.935	0.53005	D	0.999967	D	0.63880	0.993	D	0.72625	0.978	D	0.98725	1.0710	10	0.54805	T	0.06	-16.9604	13.0076	0.58715	0.0:0.9188:0.0:0.0812	.	420	Q9H9S5	FKRP_HUMAN	L	420	ENSP00000375776:F420L;ENSP00000326570:F420L	ENSP00000326570:F420L	F	+	3	2	FKRP	51951807	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.954000	0.49113	1.148000	0.42385	0.305000	0.20034	TTC		0.627	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		2	13	0	0	0	6.4e-05	0	2	13				
RET	5979	broad.mit.edu	37	10	43607566	43607566	+	Silent	SNP	C	C	A			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr10:43607566C>A	ENST00000355710.3	+	8	1774	c.1542C>A	c.(1540-1542)ggC>ggA	p.G514G	RET_ENST00000340058.5_Silent_p.G514G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	514					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGGAGGCGGGCTGCCCCCTGT	0.662		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1540-1542)ggC>ggA		ret proto-oncogene	Sunitinib(DB01268)						61.0	57.0	58.0					10																	43607566		2202	4297	6499	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43607566C>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1542C>A	10.37:g.43607566C>A						RET_ENST00000340058.5_Silent_p.G514G	p.G514G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			8	1774	+		Ovarian(717;0.0423)	514					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1542C>A	CCDS7200.1																																																																																				0.662	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		3	6	1	0	0.00024832	0.00024832	0.000846127	3	6				
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C	rs370500896	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542													G|||	18	0.00359425	0.0	0.0	5008	,	,		22692	0.0		0.001	False		,,,				2504	0.0174					ENST00000418868.1																			0																																																			0							g.chr3:197348634G>C																													3.37:g.197348634G>C								NR_003266.2						0	625	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.542	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	51	0	0	0	0.000602214	0	4	51				
CDH7	1005	broad.mit.edu	37	18	63477091	63477091	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr18:63477091G>A	ENST00000397968.2	+	3	788	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CDH7_ENST00000323011.3_Missense_Mutation_p.R121Q|CDH7_ENST00000536984.2_Missense_Mutation_p.R121Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R121L(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACACGCTCCGAGCTCAAGCG	0.493																																						ENST00000536984.2																			2	Substitution - Missense(2)	p.R121L(2)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(361-363)cGa>cAa		cadherin 7, type 2							71.0	67.0	69.0					18																	63477091		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477091G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.362G>A	18.37:g.63477091G>A	ENSP00000381058:p.Arg121Gln					CDH7_ENST00000397968.2_Missense_Mutation_p.R121Q|CDH7_ENST00000323011.3_Missense_Mutation_p.R121Q	p.R121Q			Q9ULB5	CADH7_HUMAN			3	1056	+		Esophageal squamous(42;0.129)	121			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.362G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501863	0.64298	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.50548	0.74;0.74;0.74	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.152719	0.45361	D	0.000373	T	0.39306	0.1073	L	0.45285	1.41	0.58432	D	0.999994	P;P	0.45428	0.858;0.467	B;B	0.29716	0.106;0.023	T	0.43621	-0.9380	10	0.52906	T	0.07	.	20.1416	0.98058	0.0:0.0:1.0:0.0	.	121;121	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Q	121	ENSP00000319166:R121Q;ENSP00000443030:R121Q;ENSP00000381058:R121Q	ENSP00000319166:R121Q	R	+	2	0	CDH7	61628071	0.998000	0.40836	0.290000	0.24890	0.879000	0.50718	4.835000	0.62781	2.767000	0.95098	0.650000	0.86243	CGA		0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		7	55	0	0	0	0.00198382	0	7	55				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	40	0	0	0	6.4e-05	0	3	40				
GTF2F2	2963	broad.mit.edu	37	13	45725876	45725876	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr13:45725876C>T	ENST00000340473.6	+	4	355	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	72					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TGGTGGAAAACCAGCTTCAGT	0.378																																						ENST00000340473.6																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(214-216)Cca>Tca		general transcription factor IIF, polypeptide 2, 30kDa							166.0	157.0	160.0					13																	45725876		2203	4300	6503	SO:0001583	missense	2963				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding	g.chr13:45725876C>T	X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.214C>T	13.37:g.45725876C>T	ENSP00000340823:p.Pro72Ser						p.P72S	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)	4	355	+		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	72					A6NNS5|Q5W0H3	Missense_Mutation	SNP	ENST00000340473.6	37	c.214C>T	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052999	0.36181	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.88	5.88	0.94601	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.113026	0.64402	D	0.000009	T	0.59088	0.2168	L	0.61036	1.89	0.51233	D	0.999913	B	0.06786	0.001	B	0.06405	0.002	T	0.54768	-0.8244	9	0.41790	T	0.15	-9.7873	12.5139	0.56021	0.0:0.9246:0.0:0.0754	.	72	P13984	T2FB_HUMAN	S	72	.	ENSP00000340823:P72S	P	+	1	0	GTF2F2	44623876	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.149000	0.42244	2.769000	0.95229	0.655000	0.94253	CCA		0.378	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128		4	82	0	0	0	0.00024832	0	4	82				
OR4N4	283694	broad.mit.edu	37	15	22383218	22383218	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr15:22383218T>C	ENST00000328795.4	+	1	837	c.746T>C	c.(745-747)cTt>cCt	p.L249P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTATACTTCTTATGTTTGGA	0.468																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(745-747)cTt>cCt		olfactory receptor, family 4, subfamily N, member 4							232.0	203.0	213.0					15																	22383218		2192	4263	6455	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383218T>C	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.746T>C	15.37:g.22383218T>C	ENSP00000332500:p.Leu249Pro					RP11-69H14.6_ENST00000558896.1_RNA	p.L249P	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	837	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	249					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.746T>C	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.286599	0.23478	.	.	ENSG00000183706	ENST00000328795	T	0.00302	8.2	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.175058	0.27549	N	0.018868	T	0.01124	0.0037	H	0.98370	4.215	0.38917	D	0.957663	D	0.76494	0.999	D	0.76575	0.988	T	0.18429	-1.0337	10	0.87932	D	0	-8.8255	9.7407	0.40416	0.0:0.0:0.0:1.0	.	249	Q8N0Y3	OR4N4_HUMAN	P	249	ENSP00000332500:L249P	ENSP00000332500:L249P	L	+	2	0	OR4N4	19884582	0.175000	0.23083	0.973000	0.42090	0.018000	0.09664	3.334000	0.52097	1.454000	0.47793	0.332000	0.21555	CTT		0.468	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			4	209	0	0	0	0.00024832	0	4	209				
SCN9A	6335	broad.mit.edu	37	2	167142878	167142878	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr2:167142878C>T	ENST00000409435.1	-	10	1569	c.1570G>A	c.(1570-1572)Gca>Aca	p.A524T	SCN9A_ENST00000409672.1_Missense_Mutation_p.A524T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A525T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A525T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	524					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTCATGTGCTCGCCTATGC	0.443																																						ENST00000303354.6																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1573-1575)Gca>Aca		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						257.0	241.0	246.0					2																	167142878		1929	4137	6066	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142878C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1570G>A	2.37:g.167142878C>T	ENSP00000386330:p.Ala524Thr					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.A524T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A524T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A525T	p.A525T			Q15858	SCN9A_HUMAN			11	1913	-			524					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1573G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.698242	0.00725	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.76	1.79	0.24919	Domain of unknown function DUF3451 (1);	2.855450	0.01030	N	0.004121	T	0.69646	0.3134	N	0.00966	-1.09	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12156	0.001;0.007;0.001	T	0.69083	-0.5239	10	0.02654	T	1	.	7.7958	0.29146	0.0:0.5993:0.1067:0.294	.	524;524;525	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	524;525;525;524;389;389	ENSP00000386306:A524T;ENSP00000364536:A525T;ENSP00000304748:A525T;ENSP00000386330:A524T;ENSP00000413212:A389T;ENSP00000393141:A389T	ENSP00000304748:A525T	A	-	1	0	SCN9A	166851124	0.000000	0.05858	0.105000	0.21289	0.085000	0.17905	-0.500000	0.06405	0.317000	0.23160	0.585000	0.79938	GCA		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		12	263	0	0	0	0.000978159	0	12	263				
FKBPL	63943	broad.mit.edu	37	6	32096729	32096729	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr6:32096729G>C	ENST00000375156.3	-	2	1099	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	277					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										TCCAACACCCGGTCACAGCTC	0.592																																						ENST00000375156.3																			0											c.(829-831)Cgg>Ggg		FK506 binding protein like							53.0	58.0	56.0					6																	32096729		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32096729G>C	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.829C>G	6.37:g.32096729G>C	ENSP00000364298:p.Arg277Gly						p.R277G	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	1099	-			277					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.829C>G	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010601	0.75046	.	.	ENSG00000204315	ENST00000375156	T	0.61040	0.14	5.87	4.02	0.46733	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.181999	0.34986	N	0.003532	T	0.64068	0.2565	M	0.75615	2.305	0.36303	D	0.857161	D	0.63880	0.993	D	0.64687	0.928	T	0.69172	-0.5215	10	0.51188	T	0.08	-12.5954	12.9986	0.58662	0.0:0.0:0.677:0.3229	.	277	Q9UIM3	FKBPL_HUMAN	G	277	ENSP00000364298:R277G	ENSP00000364298:R277G	R	-	1	2	FKBPL	32204707	0.984000	0.35163	0.999000	0.59377	0.993000	0.82548	0.971000	0.29396	0.749000	0.32854	0.561000	0.74099	CGG		0.592	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			9	83	0	0	0	0.000274275	0	9	83				
CERS6	253782	broad.mit.edu	37	2	169547576	169547576	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr2:169547576G>C	ENST00000305747.6	+	5	1085	c.498G>C	c.(496-498)tgG>tgC	p.W166C	CERS6_ENST00000392687.4_Missense_Mutation_p.W166C	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	166	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GGCATTGCTGGTACAACTACC	0.388																																						ENST00000305747.6																			0											c.(496-498)tgG>tgC		ceramide synthase 6							155.0	157.0	156.0					2																	169547576		2203	4300	6503	SO:0001583	missense	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169547576G>C	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.498G>C	2.37:g.169547576G>C	ENSP00000306579:p.Trp166Cys					CERS6_ENST00000392687.4_Missense_Mutation_p.W166C	p.W166C	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			5	1085	+			166			TLC.		Q32M63|Q8N617	Missense_Mutation	SNP	ENST00000305747.6	37	c.498G>C	CCDS2228.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063957	0.76187	.	.	ENSG00000172292	ENST00000305747;ENST00000392687	D;D	0.86366	-2.11;-2.11	5.94	5.94	0.96194	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.96012	0.8701	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.96728	0.9537	10	0.87932	D	0	-34.7055	19.1451	0.93461	0.0:0.0:1.0:0.0	.	166;166	Q32M63;Q6ZMG9	.;CERS6_HUMAN	C	166	ENSP00000306579:W166C;ENSP00000376453:W166C	ENSP00000306579:W166C	W	+	3	0	CERS6	169255822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.139000	0.89615	2.820000	0.97059	0.650000	0.86243	TGG		0.388	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		3	96	0	0	0	0.004672	0	3	96				
NGFRAP1	27018	broad.mit.edu	37	X	102632596	102632596	+	Silent	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:102632596G>C	ENST00000372645.3	+	3	504	c.177G>C	c.(175-177)ggG>ggC	p.G59G	NGFRAP1_ENST00000299872.7_Silent_p.G59G|NGFRAP1_ENST00000361298.4_Silent_p.G49G|NGFRAP1_ENST00000372635.1_Silent_p.G59G|NGFRAP1_ENST00000372634.1_Silent_p.G49G			Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	59					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|metal ion binding (GO:0046872)	p.G59A(1)|p.G59G(1)		NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCAATGATGGGATGGGTGGAG	0.502																																						ENST00000361298.4																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.G59A(1)|p.G59G(1)	lung(2)	NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						c.(145-147)ggG>ggC		nerve growth factor receptor (TNFRSF16) associated protein 1							191.0	181.0	184.0					X																	102632596		2203	4300	6503	SO:0001819	synonymous_variant	27018				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding	g.chrX:102632596G>C	AF187064	CCDS14508.1, CCDS14509.1	Xq22.2	2014-03-21			ENSG00000166681	ENSG00000166681			13388	protein-coding gene	gene with protein product	"""brain expressed, X-linked 3"""	300361				10764727, 16221301, 2171551	Standard	NM_206915		Approved	BEX3, HGR74, Bex, NADE, DXS6984E	uc004ekj.1	Q00994	OTTHUMG00000022099	ENST00000372645.3:c.177G>C	X.37:g.102632596G>C						NGFRAP1_ENST00000372635.1_Silent_p.G59G|NGFRAP1_ENST00000372645.3_Silent_p.G59G|NGFRAP1_ENST00000299872.7_Silent_p.G59G|NGFRAP1_ENST00000372634.1_Silent_p.G49G	p.G49G	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN			3	512	+			59					B2RD17|D3DXA3|Q5JQT4|Q5JQT5	Silent	SNP	ENST00000372645.3	37	c.147G>C	CCDS14508.1																																																																																				0.502	NGFRAP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057709.1	NM_014380		10	243	0	0	0	0.008291	0	10	243				
DOCK11	139818	broad.mit.edu	37	X	117815662	117815662	+	Silent	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:117815662T>C	ENST00000276202.7	+	51	5931	c.5868T>C	c.(5866-5868)aaT>aaC	p.N1956N	DOCK11_ENST00000276204.6_Silent_p.N1956N	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1956	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TATAGGTCAATGCTGGTCCAT	0.338																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(5866-5868)aaT>aaC		dedicator of cytokinesis 11							136.0	124.0	128.0					X																	117815662		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117815662T>C	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5868T>C	X.37:g.117815662T>C						DOCK11_ENST00000276202.7_Silent_p.N1956N	p.N1956N			Q5JSL3	DOC11_HUMAN			51	5942	+			1956			DHR-2.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.5868T>C	CCDS35373.1																																																																																				0.338	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		21	106	0	0	0	0.002780	0	21	106				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496|rs146546850	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr22:29091840_29091841TG>CA	ENST00000405598.1	-	12	1307_1308	c.1116_1117CA>TG	c.(1114-1119)tcCAag>tcTGag	p.K373E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			17	Substitution - Missense(9)|Substitution - coding silent(8)	p.K373E(9)|p.S372S(8)	kidney(8)|prostate(4)|endometrium(2)|central_nervous_system(2)|stomach(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag|c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C|g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116_1117delinsCA	22.37:g.29091840_29091841delinsCA	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S	p.K152E|p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890|1889	-			373|372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation|Silent	SNP	ENST00000405598.1	37	c.454A>G|c.453C>T	CCDS13843.1																																																																																				0.416	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	47	0	0	0	0.001984	0	4	47				
LPAR4	2846	broad.mit.edu	37	X	78010703	78010703	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:78010703A>G	ENST00000435339.3	+	2	723	c.337A>G	c.(337-339)Atc>Gtc	p.I113V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	113					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CCTCTGCAAGATCTCTGGAAC	0.428																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(337-339)Atc>Gtc		lysophosphatidic acid receptor 4							170.0	140.0	150.0					X																	78010703		2203	4299	6502	SO:0001583	missense	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78010703A>G	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.337A>G	X.37:g.78010703A>G	ENSP00000408205:p.Ile113Val					LPAR4_ENST00000373301.2_Missense_Mutation_p.I113V	p.I113V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	742	+			113					B2RAC7|O15132|Q502U9|Q6NSP5	Missense_Mutation	SNP	ENST00000435339.3	37	c.337A>G	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	A	6.541	0.468165	0.12461	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	T;T	0.37411	1.2;1.2	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.079753	0.52532	D	0.000072	T	0.27134	0.0665	L	0.28504	0.86	0.40862	D	0.983846	B	0.13594	0.008	B	0.20577	0.03	T	0.07927	-1.0747	10	0.39692	T	0.17	.	11.3846	0.49778	1.0:0.0:0.0:0.0	.	113	Q99677	LPAR4_HUMAN	V	113	ENSP00000408205:I113V;ENSP00000362398:I113V	ENSP00000362398:I113V	I	+	1	0	LPAR4	77897359	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.576000	0.60915	1.561000	0.49584	0.345000	0.21793	ATC		0.428	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		4	148	0	0	0	0.000602	0	4	148				
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662													a|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.001					ENST00000380095.1																			1	Substitution - Missense(1)	p.T55A(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(163-165)Acg>Gcg		keratin associated protein 10-10							56.0	62.0	60.0					21																	46057497		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057497A>G	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.163A>G	21.37:g.46057497A>G	ENSP00000369438:p.Thr55Ala					TSPEAR_ENST00000323084.4_Intron	p.T55A	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	225	+			55			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.163A>G	CCDS33585.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	0.001	-3.777528	0.00004	.	.	ENSG00000221859	ENST00000380095	T	0.00976	5.48	1.05	-1.25	0.09405	.	.	.	.	.	T	0.00356	0.0011	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	3.9159	0.09222	0.1957:0.4879:0.3163:0.0	rs377408	55	P60014	KR10A_HUMAN	A	55	ENSP00000369438:T55A	ENSP00000369438:T55A	T	+	1	0	KRTAP10-10	44881925	0.000000	0.05858	0.062000	0.19696	0.039000	0.13416	0.043000	0.13971	-0.506000	0.06558	-0.741000	0.03529	ACG		0.662	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		3	111	0	0	0	0.004672	0	3	111				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		1016	Substitution - Missense(1016)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)cAa>cGa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256529		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256529T>C	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61R	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	435	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.182A>G	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		60	109	0	0	0	0.003610	0	60	109				
CFHR5	81494	broad.mit.edu	37	1	196964999	196964999	+	Nonsense_Mutation	SNP	G	G	T	rs201472916		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr1:196964999G>T	ENST00000256785.4	+	5	869	c.760G>T	c.(760-762)Gga>Tga	p.G254*	CFHR5_ENST00000367414.5_Nonsense_Mutation_p.G278*			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	254	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATGTGTGGATGGAGAATGGAC	0.308																																						ENST00000367414.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(832-834)Gga>Tga		complement factor H-related 5							88.0	96.0	93.0					1																	196964999		2203	4300	6503	SO:0001587	stop_gained	81494				complement activation, alternative pathway	extracellular region		g.chr1:196964999G>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.760G>T	1.37:g.196964999G>T	ENSP00000256785:p.Gly254*					CFHR5_ENST00000256785.4_Nonsense_Mutation_p.G254*	p.G278*	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			5	888	+			254			Sushi 5.		Q2NKK2	Nonsense_Mutation	SNP	ENST00000256785.4	37	c.832G>T	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.433947	0.62955	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	.	.	.	3.49	3.49	0.39957	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.838	0.46698	0.0:0.0:1.0:0.0	.	.	.	.	X	278;254	.	ENSP00000256785:G254X	G	+	1	0	CFHR5	195231622	1.000000	0.71417	0.435000	0.26784	0.052000	0.14988	3.147000	0.50639	1.670000	0.50864	0.544000	0.68410	GGA		0.308	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		4	37	1	0	0.000602214	0.000602	0.0019572	4	37				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																						ENST00000445430.1																			0																																																			0							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T														0	1391	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	38	0	0	0	0.000602	0	4	38				
ZNF804B	219578	broad.mit.edu	37	7	88965206	88965206	+	Silent	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr7:88965206A>G	ENST00000333190.4	+	4	3519	c.2910A>G	c.(2908-2910)tcA>tcG	p.S970S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	970							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCACCATCAGGCTGTAACA	0.408										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2908-2910)tcA>tcG		zinc finger protein 804B							111.0	111.0	111.0					7																	88965206		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88965206A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2910A>G	7.37:g.88965206A>G		HNSCC(36;0.09)					p.S970S	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3519	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		970					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.2910A>G	CCDS5613.1																																																																																				0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		3	98	0	0	0	0.000248	0	3	98				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	55	0	0	0	0.000248	0	4	55				
THOC1	9984	broad.mit.edu	37	18	246403	246403	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr18:246403T>C	ENST00000261600.6	-	11	846	c.839A>G	c.(838-840)cAg>cGg	p.Q280R	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	280					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTGAGGCCTGAGTATCATC	0.269																																						ENST00000261600.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20						c.(838-840)cAg>cGg		THO complex 1							46.0	47.0	46.0					18																	246403		1786	4048	5834	SO:0001583	missense	9984				apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	g.chr18:246403T>C	AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.839A>G	18.37:g.246403T>C	ENSP00000261600:p.Gln280Arg					THOC1_ENST00000582313.1_5'UTR	p.Q280R	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN			11	846	-		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	280					B2RBP6|Q15219|Q64I72|Q64I73	Missense_Mutation	SNP	ENST00000261600.6	37	c.839A>G	CCDS45820.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.253312	0.22965	.	.	ENSG00000079134	ENST00000261600	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.46171	0.1379	N	0.13235	0.315	0.58432	D	0.999999	B;D	0.57571	0.2;0.98	B;P	0.55577	0.069;0.779	T	0.38222	-0.9671	9	0.05620	T	0.96	-10.0384	16.1668	0.81768	0.0:0.0:0.0:1.0	.	280;280	Q96FV9-2;Q96FV9	.;THOC1_HUMAN	R	280	.	ENSP00000261600:Q280R	Q	-	2	0	THOC1	236403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.678000	0.84035	2.210000	0.71456	0.533000	0.62120	CAG		0.269	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440348.5	NM_005131		3	61	0	0	0	0.000248	0	3	61				
WNT5B	81029	broad.mit.edu	37	12	1741882	1741882	+	Missense_Mutation	SNP	G	G	A	rs138238149		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr12:1741882G>A	ENST00000397196.2	+	3	371	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	WNT5B_ENST00000310594.3_Missense_Mutation_p.V47M|WNT5B_ENST00000542408.1_Missense_Mutation_p.V47M|WNT5B_ENST00000537031.1_Missense_Mutation_p.V47M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	47					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			TGCCCAGCCCGTGTGCAGTCA	0.567																																						ENST00000397196.2																			0				skin(1)	1						c.(139-141)Gtg>Atg		wingless-type MMTV integration site family, member 5B							102.0	106.0	105.0					12																	1741882		2203	4300	6503	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1741882G>A	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.139G>A	12.37:g.1741882G>A	ENSP00000380379:p.Val47Met					WNT5B_ENST00000537031.1_Missense_Mutation_p.V47M|WNT5B_ENST00000542408.1_Missense_Mutation_p.V47M|WNT5B_ENST00000310594.3_Missense_Mutation_p.V47M	p.V47M	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		3	371	+	Ovarian(42;0.107)		47					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.139G>A	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693665	0.48202	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071;ENST00000542408	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.3	5.3	0.74995	.	0.240720	0.34750	N	0.003712	T	0.51601	0.1684	N	0.04655	-0.195	0.47659	D	0.999489	B	0.26577	0.153	B	0.26770	0.073	T	0.52525	-0.8564	10	0.10902	T	0.67	.	14.5596	0.68126	0.0:0.146:0.854:0.0	.	47	Q9H1J7	WNT5B_HUMAN	M	47	ENSP00000438414:V47M;ENSP00000445395:V47M;ENSP00000439312:V47M;ENSP00000308887:V47M;ENSP00000380379:V47M;ENSP00000442348:V47M;ENSP00000440600:V47M	ENSP00000308887:V47M	V	+	1	0	WNT5B	1612143	1.000000	0.71417	0.996000	0.52242	0.970000	0.65996	3.380000	0.52448	2.475000	0.83589	0.557000	0.71058	GTG		0.567	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			19	120	0	0	0	0.008871	0	19	120				
KLHL13	90293	broad.mit.edu	37	X	117053625	117053625	+	Silent	SNP	G	G	A	rs75572880		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:117053625G>A	ENST00000262820.3	-	4	1338	c.429C>T	c.(427-429)gtC>gtT	p.V143V	KLHL13_ENST00000371878.1_Silent_p.V92V|KLHL13_ENST00000541812.1_Silent_p.V127V|KLHL13_ENST00000371876.1_Silent_p.V92V|KLHL13_ENST00000540167.1_Silent_p.V127V|KLHL13_ENST00000545703.1_Silent_p.V101V|KLHL13_ENST00000539496.1_Silent_p.V146V|KLHL13_ENST00000469946.1_Silent_p.V92V|KLHL13_ENST00000371882.1_Silent_p.V92V	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	143	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTTAGACCGACTTTGCTCA	0.343																																						ENST00000371876.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(274-276)gtC>gtT		kelch-like family member 13							67.0	68.0	67.0					X																	117053625		2203	4300	6503	SO:0001819	synonymous_variant	90293				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		g.chrX:117053625G>A	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.429C>T	X.37:g.117053625G>A						KLHL13_ENST00000371882.1_Silent_p.V92V|KLHL13_ENST00000541812.1_Silent_p.V127V|KLHL13_ENST00000545703.1_Silent_p.V101V|KLHL13_ENST00000539496.1_Silent_p.V146V|KLHL13_ENST00000371878.1_Silent_p.V92V|KLHL13_ENST00000540167.1_Silent_p.V127V|KLHL13_ENST00000262820.3_Silent_p.V143V|KLHL13_ENST00000469946.1_Silent_p.V92V	p.V92V			Q9P2N7	KLH13_HUMAN			3	2697	-			143			BTB.		B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	c.276C>T	CCDS14571.1																																																																																				0.343	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495		4	78	0	0	0	0.001168	0	4	78				
FKRP	79147	broad.mit.edu	37	19	47259967	47259967	+	Missense_Mutation	SNP	C	C	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr19:47259967C>G	ENST00000318584.5	+	4	1557	c.1260C>G	c.(1258-1260)ttC>ttG	p.F420L	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.F420L	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	420					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TGTGGCCCTTCTACCCCCGCA	0.627																																						ENST00000318584.5																			0				NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1258-1260)ttC>ttG		fukutin related protein							89.0	50.0	64.0					19																	47259967		2203	4300	6503	SO:0001583	missense	79147					extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity	g.chr19:47259967C>G	AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.1260C>G	19.37:g.47259967C>G	ENSP00000326570:p.Phe420Leu					FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Missense_Mutation_p.F420L	p.F420L	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)	4	1557	+		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	420					A8K5G7	Missense_Mutation	SNP	ENST00000318584.5	37	c.1260C>G	CCDS12691.1	.	.	.	.	.	.	.	.	.	.	C	19.11	3.763224	0.69763	.	.	ENSG00000181027	ENST00000391909;ENST00000318584	D;D	0.99637	-6.29;-6.29	5.15	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	M	0.62723	1.935	0.53005	D	0.999967	D	0.63880	0.993	D	0.72625	0.978	D	0.98725	1.0710	10	0.54805	T	0.06	-16.9604	13.0076	0.58715	0.0:0.9188:0.0:0.0812	.	420	Q9H9S5	FKRP_HUMAN	L	420	ENSP00000375776:F420L;ENSP00000326570:F420L	ENSP00000326570:F420L	F	+	3	2	FKRP	51951807	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	2.954000	0.49113	1.148000	0.42385	0.305000	0.20034	TTC		0.627	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465473.1	NM_024301		2	13	0	0	0	0.004672	0	2	13				
CDH7	1005	broad.mit.edu	37	18	63477091	63477091	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr18:63477091G>A	ENST00000397968.2	+	3	788	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	CDH7_ENST00000323011.3_Missense_Mutation_p.R121Q|CDH7_ENST00000536984.2_Missense_Mutation_p.R121Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	121	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R121L(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TACACGCTCCGAGCTCAAGCG	0.493																																						ENST00000536984.2																			2	Substitution - Missense(2)	p.R121L(2)	lung(2)	NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(361-363)cGa>cAa		cadherin 7, type 2							71.0	67.0	69.0					18																	63477091		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477091G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.362G>A	18.37:g.63477091G>A	ENSP00000381058:p.Arg121Gln					CDH7_ENST00000397968.2_Missense_Mutation_p.R121Q|CDH7_ENST00000323011.3_Missense_Mutation_p.R121Q	p.R121Q			Q9ULB5	CADH7_HUMAN			3	1056	+		Esophageal squamous(42;0.129)	121			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.362G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.501863	0.64298	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.50548	0.74;0.74;0.74	5.83	5.83	0.93111	Cadherin (4);Cadherin-like (1);	0.152719	0.45361	D	0.000373	T	0.39306	0.1073	L	0.45285	1.41	0.58432	D	0.999994	P;P	0.45428	0.858;0.467	B;B	0.29716	0.106;0.023	T	0.43621	-0.9380	10	0.52906	T	0.07	.	20.1416	0.98058	0.0:0.0:1.0:0.0	.	121;121	F5H5X9;Q9ULB5	.;CADH7_HUMAN	Q	121	ENSP00000319166:R121Q;ENSP00000443030:R121Q;ENSP00000381058:R121Q	ENSP00000319166:R121Q	R	+	2	0	CDH7	61628071	0.998000	0.40836	0.290000	0.24890	0.879000	0.50718	4.835000	0.62781	2.767000	0.95098	0.650000	0.86243	CGA		0.493	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		7	55	0	0	0	0.001984	0	7	55				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		3	53	0	0	0	0.000248	0	3	53				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			3	57	0	0	0	0.004672	0	3	57				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	124	0	0	0	0.004672	0	3	124				
GTF2F2	2963	broad.mit.edu	37	13	45725876	45725876	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr13:45725876C>T	ENST00000340473.6	+	4	355	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2, 30kDa	72					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIF complex (GO:0005674)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)		TGGTGGAAAACCAGCTTCAGT	0.378																																						ENST00000340473.6																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(214-216)Cca>Tca		general transcription factor IIF, polypeptide 2, 30kDa							166.0	157.0	160.0					13																	45725876		2203	4300	6503	SO:0001583	missense	2963				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding	g.chr13:45725876C>T	X16901	CCDS9395.1	13q14	2012-01-23	2002-08-29		ENSG00000188342	ENSG00000188342		"""General transcription factors"""	4653	protein-coding gene	gene with protein product		189969	"""general transcription factor IIF, polypeptide 1 (74kD subunit)"""			8162052	Standard	NM_004128		Approved	TFIIF, BTF4, RAP30	uc001uzw.3	P13984	OTTHUMG00000016849	ENST00000340473.6:c.214C>T	13.37:g.45725876C>T	ENSP00000340823:p.Pro72Ser						p.P72S	NM_004128.2	NP_004119.1	P13984	T2FB_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)	4	355	+		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	72					A6NNS5|Q5W0H3	Missense_Mutation	SNP	ENST00000340473.6	37	c.214C>T	CCDS9395.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052999	0.36181	.	.	ENSG00000188342	ENST00000340473	.	.	.	5.88	5.88	0.94601	Transcription Factor IIF, Rap30/Rap74, interaction (1);	0.113026	0.64402	D	0.000009	T	0.59088	0.2168	L	0.61036	1.89	0.51233	D	0.999913	B	0.06786	0.001	B	0.06405	0.002	T	0.54768	-0.8244	9	0.41790	T	0.15	-9.7873	12.5139	0.56021	0.0:0.9246:0.0:0.0754	.	72	P13984	T2FB_HUMAN	S	72	.	ENSP00000340823:P72S	P	+	1	0	GTF2F2	44623876	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.149000	0.42244	2.769000	0.95229	0.655000	0.94253	CCA		0.378	GTF2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044767.2	NM_004128		4	82	0	0	0	0.000248	0	4	82				
OR8H2	390151	broad.mit.edu	37	11	55872537	55872537	+	Missense_Mutation	SNP	A	A	G	rs61746549	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr11:55872537A>G	ENST00000313503.1	+	1	19	c.19A>G	c.(19-21)Aac>Gac	p.N7D		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N7D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TAGAAGGAATAACACAAATGT	0.438										HNSCC(53;0.14)			N|||	4	0.000798722	0.0008	0.0014	5008	,	,		18426	0.0		0.0	False		,,,				2504	0.002					ENST00000313503.1																			1	Substitution - Missense(1)	p.N7D(1)	kidney(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61						c.(19-21)Aac>Gac		olfactory receptor, family 8, subfamily H, member 2							196.0	187.0	190.0					11																	55872537		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872537A>G	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.19A>G	11.37:g.55872537A>G	ENSP00000323982:p.Asn7Asp	HNSCC(53;0.14)					p.N7D	NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN			1	19	+	Esophageal squamous(21;0.00693)		7					Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.19A>G	CCDS31518.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	N	7.027	0.559788	0.13436	.	.	ENSG00000181767	ENST00000313503	T	0.00509	6.91	3.74	-2.34	0.06704	.	1.169330	0.06223	N	0.687064	T	0.00300	0.0009	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41805	-0.9488	10	0.30854	T	0.27	.	0.2174	0.00164	0.3775:0.1477:0.1868:0.288	rs61746549	7	Q8N162	OR8H2_HUMAN	D	7	ENSP00000323982:N7D	ENSP00000323982:N7D	N	+	1	0	OR8H2	55629113	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-1.679000	0.01940	-0.566000	0.06054	-1.639000	0.00775	AAC		0.438	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		4	145	0	0	0	0.000602	0	4	145				
OR4N4	283694	broad.mit.edu	37	15	22383218	22383218	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr15:22383218T>C	ENST00000328795.4	+	1	837	c.746T>C	c.(745-747)cTt>cCt	p.L249P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTATACTTCTTATGTTTGGA	0.468																																						ENST00000328795.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40						c.(745-747)cTt>cCt		olfactory receptor, family 4, subfamily N, member 4							232.0	203.0	213.0					15																	22383218		2192	4263	6455	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383218T>C	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.746T>C	15.37:g.22383218T>C	ENSP00000332500:p.Leu249Pro					RP11-69H14.6_ENST00000558896.1_RNA	p.L249P	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	837	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	249					Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.746T>C	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.21	1.286599	0.23478	.	.	ENSG00000183706	ENST00000328795	T	0.00302	8.2	3.2	3.2	0.36748	GPCR, rhodopsin-like superfamily (1);	0.175058	0.27549	N	0.018868	T	0.01124	0.0037	H	0.98370	4.215	0.38917	D	0.957663	D	0.76494	0.999	D	0.76575	0.988	T	0.18429	-1.0337	10	0.87932	D	0	-8.8255	9.7407	0.40416	0.0:0.0:0.0:1.0	.	249	Q8N0Y3	OR4N4_HUMAN	P	249	ENSP00000332500:L249P	ENSP00000332500:L249P	L	+	2	0	OR4N4	19884582	0.175000	0.23083	0.973000	0.42090	0.018000	0.09664	3.334000	0.52097	1.454000	0.47793	0.332000	0.21555	CTT		0.468	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			4	209	0	0	0	0.000248	0	4	209				
SCN9A	6335	broad.mit.edu	37	2	167142878	167142878	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr2:167142878C>T	ENST00000409435.1	-	10	1569	c.1570G>A	c.(1570-1572)Gca>Aca	p.A524T	SCN9A_ENST00000409672.1_Missense_Mutation_p.A524T|SCN9A_ENST00000375387.4_Missense_Mutation_p.A525T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.A525T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	524					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTTCATGTGCTCGCCTATGC	0.443																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1573-1575)Gca>Aca		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						257.0	241.0	246.0					2																	167142878		1929	4137	6066	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142878C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1570G>A	2.37:g.167142878C>T	ENSP00000386330:p.Ala524Thr					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.A524T|SCN9A_ENST00000303354.6_Missense_Mutation_p.A525T|SCN9A_ENST00000409672.1_Missense_Mutation_p.A524T	p.A525T			Q15858	SCN9A_HUMAN			11	1913	-			524					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1573G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.698242	0.00725	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.76	1.79	0.24919	Domain of unknown function DUF3451 (1);	2.855450	0.01030	N	0.004121	T	0.69646	0.3134	N	0.00966	-1.09	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12156	0.001;0.007;0.001	T	0.69083	-0.5239	10	0.02654	T	1	.	7.7958	0.29146	0.0:0.5993:0.1067:0.294	.	524;524;525	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	524;525;525;524;389;389	ENSP00000386306:A524T;ENSP00000364536:A525T;ENSP00000304748:A525T;ENSP00000386330:A524T;ENSP00000413212:A389T;ENSP00000393141:A389T	ENSP00000304748:A525T	A	-	1	0	SCN9A	166851124	0.000000	0.05858	0.105000	0.21289	0.085000	0.17905	-0.500000	0.06405	0.317000	0.23160	0.585000	0.79938	GCA		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		12	263	0	0	0	0.000978	0	12	263				
FKBPL	63943	broad.mit.edu	37	6	32096729	32096729	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr6:32096729G>C	ENST00000375156.3	-	2	1099	c.829C>G	c.(829-831)Cgg>Ggg	p.R277G	ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	277					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										TCCAACACCCGGTCACAGCTC	0.592																																						ENST00000375156.3																			0											c.(829-831)Cgg>Ggg		FK506 binding protein like							53.0	58.0	56.0					6																	32096729		2203	4300	6503	SO:0001583	missense	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32096729G>C	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.829C>G	6.37:g.32096729G>C	ENSP00000364298:p.Arg277Gly						p.R277G	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	1099	-			277					A8K5V3|B0UYX8|Q9H5G3	Missense_Mutation	SNP	ENST00000375156.3	37	c.829C>G	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010601	0.75046	.	.	ENSG00000204315	ENST00000375156	T	0.61040	0.14	5.87	4.02	0.46733	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.181999	0.34986	N	0.003532	T	0.64068	0.2565	M	0.75615	2.305	0.36303	D	0.857161	D	0.63880	0.993	D	0.64687	0.928	T	0.69172	-0.5215	10	0.51188	T	0.08	-12.5954	12.9986	0.58662	0.0:0.0:0.677:0.3229	.	277	Q9UIM3	FKBPL_HUMAN	G	277	ENSP00000364298:R277G	ENSP00000364298:R277G	R	-	1	2	FKBPL	32204707	0.984000	0.35163	0.999000	0.59377	0.993000	0.82548	0.971000	0.29396	0.749000	0.32854	0.561000	0.74099	CGG		0.592	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			9	83	0	0	0	0.004482	0	9	83				
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr11:14284600delA	ENST00000534587.1	-	0	38				SPON1_ENST00000310358.7_RNA																							GGACCTGTTTaaaaaaaaaaa	0.463																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284600delA																													11.37:g.14284600delA						RP11-21L19.1_ENST00000534587.1_RNA				Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2795	+									RNA	DEL	ENST00000534587.1	37																																																																																						0.463	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			6	6						6	6	---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125482924	125482940	+	Frame_Shift_Del	DEL	TCACCTACACCTTTCAT	TCACCTACACCTTTCAT	-			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr11:125482924_125482940delTCACCTACACCTTTCAT	ENST00000529196.1	+	14	1612_1628	c.1406_1422delTCACCTACACCTTTCAT	c.(1405-1422)atcacctacacctttcatfs	p.ITYTFH469fs	STT3A_ENST00000392708.4_Frame_Shift_Del_p.ITYTFH469fs|STT3A_ENST00000531491.1_Frame_Shift_Del_p.ITYTFH377fs			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	469					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCTTTCTCATCACCTACACCTTTCATTCAACCTGGG	0.442																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1405-1422)afs		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)																																				SO:0001589	frameshift_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125482924_125482940delTCACCTACACCTTTCAT	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1406_1422delTCACCTACACCTTTCAT	11.37:g.125482924_125482940delTCACCTACACCTTTCAT	ENSP00000436962:p.Ile469fs					STT3A_ENST00000531491.1_Frame_Shift_Del_p.ITYTFH377fs|STT3A_ENST00000529196.1_Frame_Shift_Del_p.ITYTFH469fs	p.ITYTFH469fs	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	13	1565_1581	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	469					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Frame_Shift_Del	DEL	ENST00000529196.1	37	c.1406_1422delTCACCTACACCTTTCAT	CCDS8458.1																																																																																				0.442	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		8	239						8	239	---	---	---	---
PRDM7	11105	broad.mit.edu	37	16	90160897	90160898	+	5'Flank	INS	-	-	GCG	rs373749795		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr16:90160897_90160898insGCG	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000564451.1_RNA|TUBB8P7_ENST00000567960.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCTGGGAACGCGGCCCTCCC	0.728																																						ENST00000564451.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:90160897_90160898insGCG	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160898_90160900dupGCG	Exception_encountered					TUBB8P7_ENST00000567960.1_RNA								0	848_849	+								A4Q9G8|Q08EM4|Q9NQW4	RNA	INS	ENST00000569206.1	37																																																																																						0.728	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1			7	29						7	29	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343771	15343771	+	RNA	DEL	A	A	-	rs372270909		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	2e89408c-689f-4e09-8292-78cc6a46dbc4	g.chr21:15343771delA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TTTGCCTTGCAAACAACCCTC	0.418																																						ENST00000344693.5																			0																																																			0							g.chr21:15343771delA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343771delA								NR_027270.1						0	736	-									RNA	DEL	ENST00000344693.5	37																																																																																						0.418	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			2	4						2	4	---	---	---	---
STT3A	3703	broad.mit.edu	37	11	125482924	125482940	+	Frame_Shift_Del	DEL	TCACCTACACCTTTCAT	TCACCTACACCTTTCAT	-			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr11:125482924_125482940delTCACCTACACCTTTCAT	ENST00000529196.1	+	14	1612_1628	c.1406_1422delTCACCTACACCTTTCAT	c.(1405-1422)atcacctacacctttcatfs	p.ITYTFH469fs	STT3A_ENST00000392708.4_Frame_Shift_Del_p.ITYTFH469fs|STT3A_ENST00000531491.1_Frame_Shift_Del_p.ITYTFH377fs			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	469					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TTCTTTCTCATCACCTACACCTTTCATTCAACCTGGG	0.442																																						ENST00000392708.4																			0				NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33						c.(1405-1422)afs		STT3A, subunit of the oligosaccharyltransferase complex (catalytic)																																				SO:0001589	frameshift_variant	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125482924_125482940delTCACCTACACCTTTCAT	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1406_1422delTCACCTACACCTTTCAT	11.37:g.125482924_125482940delTCACCTACACCTTTCAT	ENSP00000436962:p.Ile469fs					STT3A_ENST00000531491.1_Frame_Shift_Del_p.ITYTFH377fs|STT3A_ENST00000529196.1_Frame_Shift_Del_p.ITYTFH469fs	p.ITYTFH469fs	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	13	1565_1581	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	469					B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Frame_Shift_Del	DEL	ENST00000529196.1	37	c.1406_1422delTCACCTACACCTTTCAT	CCDS8458.1																																																																																				0.442	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		8	239						8	239	---	---	---	---
KCNN1	3780	broad.mit.edu	37	19	18092362	18092362	+	Intron	DEL	A	A	-	rs71164338	byFrequency	TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr19:18092362delA	ENST00000222249.9	+	5	817					NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8					Miconazole(DB01110)|Procaine(DB00721)	actccatctcaaaaaaaaaaa	0.522													|||unknown(HR)	1355	0.270567	0.4145	0.232	5008	,	,		15172	0.1329		0.2584	False		,,,				2504	0.2577					ENST00000601725.1																			0																																																	SO:0001627	intron_variant	0							g.chr19:18092362delA	U69883	CCDS67611.1	19p13.1	2012-07-05				ENSG00000105642		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6290	protein-coding gene	gene with protein product		602982				8781233, 10516439, 16382103	Standard	NM_002248		Approved	KCa2.1, hSK1	uc002nht.3	Q92952		ENST00000222249.9:c.499-156A>-	19.37:g.18092362delA														0	133	+								Q5KR10|Q6DJU4	RNA	DEL	ENST00000222249.9	37																																																																																						0.522	KCNN1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471896.2	NM_002248		2	4						2	4	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343771	15343771	+	RNA	DEL	A	A	-	rs372270909		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr21:15343771delA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TTTGCCTTGCAAACAACCCTC	0.418																																						ENST00000344693.5																			0																																																			0							g.chr21:15343771delA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343771delA								NR_027270.1						0	736	-									RNA	DEL	ENST00000344693.5	37																																																																																						0.418	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			2	4						2	4	---	---	---	---
LIF	3976	broad.mit.edu	37	22	30642618	30642618	+	Intron	DEL	G	G	-			TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chr22:30642618delG	ENST00000249075.3	-	1	175				RP1-102K2.8_ENST00000608354.1_RNA|LIF_ENST00000403987.3_Intron|RP1-102K2.8_ENST00000593843.1_RNA	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor						blood vessel remodeling (GO:0001974)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|immune response (GO:0006955)|leukemia inhibitory factor signaling pathway (GO:0048861)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|multicellular organismal development (GO:0007275)|muscle organ morphogenesis (GO:0048644)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of hormone secretion (GO:0046888)|negative regulation of meiosis (GO:0045835)|neuron development (GO:0048666)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cell proliferation (GO:0008284)|positive regulation of histone H3-K27 acetylation (GO:1901676)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|spongiotrophoblast differentiation (GO:0060708)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|leukemia inhibitory factor receptor binding (GO:0005146)|receptor binding (GO:0005102)|RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001135)			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			AGTTGCCGCCGCGCCCCGCAG	0.711																																						ENST00000593843.1																			0											c.(433-435)ccfs									8.0	7.0	7.0					22																	30642618		1951	3792	5743	SO:0001627	intron_variant	0							g.chr22:30642618delG		CCDS13872.1, CCDS58799.1	22q12.2	2012-02-09	2012-02-09		ENSG00000128342	ENSG00000128342			6596	protein-coding gene	gene with protein product	"""differentiation inhibitory activity"", ""differentiation-inducing factor"", ""hepatocyte-stimulating factor III"", ""cholinergic differentiation factor"", ""human interleukin in DA cells"""	159540				1714745, 8058719	Standard	NM_002309		Approved	CDF, DIA, HILDA	uc003agz.3	P15018	OTTHUMG00000150910	ENST00000249075.3:c.19+47C>-	22.37:g.30642618delG						LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron	p.R145fs							2	434	+								B2RCW7|B5MC23|Q52LZ2	Frame_Shift_Del	DEL	ENST00000249075.3	37	c.434delG	CCDS13872.1																																																																																				0.711	LIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320508.1	NM_002309		2	4						2	4	---	---	---	---
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT	rs372553636		TCGA-BJ-A2N8-01A-11D-A18F-08	TCGA-BJ-A2N8-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	123a6737-d478-4f9a-b1a2-1302105e1c5c	bf79058f-56e5-4464-bf25-2cf994aa3f45	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1	Q9UEU5	GGE2D_HUMAN	G antigen 2D	9					cellular defense response (GO:0006968)												GAAGATCGACCTATCGGCCTAG	0.465														477	0.126358	0.031	0.098	3775	,	,		26951	0.0972		0.1441	False		,,,				2504	0.1278					ENST00000404720.2																			0											c.(22-27)acatcg>acTATatcg		G antigen 2D				10,505,1500		1,1,3,4,46,330,82,490,187						-1.1	0.0			8	27,1244,2482		1,3,16,6,128,539,446,675,577	no	codingComplex	GAGE2D	NM_001098407.1		2,4,19,10,174,869,528,1165,764	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.8662,25.5583,30.9639				37,1749,3982				SO:0001652	inframe_insertion	729408							g.chrX:49208295_49208296insTAT			Xp11.23	2012-10-02			ENSG00000240257				31959	protein-coding gene	gene with protein product		300735					Standard	NM_001098407		Approved	GAGE8		Q9UEU5	OTTHUMG00000067393	ENST00000404720.2:c.25_27dupTAT	X.37:g.49208296_49208298dupTAT	ENSP00000386110:p.Tyr9dup						p.8_9TS>TIS	NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1					2	96_97	+								A6NG46|A6NNR8|B7ZL76|Q4V325	In_Frame_Ins	INS	ENST00000404720.2	37	c.24_25insTAT	CCDS43941.1																																																																																				0.465	GAGE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144212.1	NM_001098407		8	29						8	29	---	---	---	---
