#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
FANCG	2189	broad.mit.edu	37	9	35079474	35079474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr9:35079474C>T	ENST00000378643.3	-	1	539	c.48G>A	c.(46-48)tgG>tgA	p.W16*	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	16					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTTTTCCCTCCACAGGTCCA	0.617			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000378643.3			yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Mis, N, F, S"""	"""Fanconi anemia, complementation group G"""			L		"""AML, leukemia"""			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28						c.(46-48)tgG>tgA	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group G							79.0	79.0	79.0					9																	35079474		2203	4300	6503	SO:0001587	stop_gained	2189				cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35079474C>T	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.48G>A	9.37:g.35079474C>T	ENSP00000367910:p.Trp16*						p.W16*	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		1	539	-			16						Nonsense_Mutation	SNP	ENST00000378643.3	37	c.48G>A	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	37	6.398967	0.97537	.	.	ENSG00000221829	ENST00000378643;ENST00000543657;ENST00000448890	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.4347	13.8924	0.63747	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000367910:W16X	W	-	3	0	FANCG	35069474	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.233000	0.51311	2.735000	0.93741	0.561000	0.74099	TGG		0.617	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		31	61	0	0	0	0.086207	0	31	61				
MAPKAPK3	7867	broad.mit.edu	37	3	50679702	50679702	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr3:50679702G>A	ENST00000446044.1	+	7	1039	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R148Q	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|innate immune response (GO:0045087)|macropinocytosis (GO:0044351)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|Ras protein signal transduction (GO:0007265)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GAGATAATGCGGGATATTGGC	0.562																																						ENST00000446044.1																			0				central_nervous_system(1)|ovary(1)	2						c.(442-444)cGg>cAg		mitogen-activated protein kinase-activated protein kinase 3							83.0	78.0	80.0					3																	50679702		2203	4300	6503	SO:0001583	missense	7867				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	g.chr3:50679702G>A	U43784	CCDS2832.1	3p21.3	2004-03-10			ENSG00000114738	ENSG00000114738			6888	protein-coding gene	gene with protein product		602130				8626550, 8622688	Standard	NM_004635		Approved	3pK, MAPKAP3, 3PK	uc003dba.2	Q16644	OTTHUMG00000156850	ENST00000446044.1:c.443G>A	3.37:g.50679702G>A	ENSP00000396467:p.Arg148Gln					MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.R148Q	p.R148Q	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)	7	1039	+			148			Protein kinase.		B5BU67	Missense_Mutation	SNP	ENST00000446044.1	37	c.443G>A	CCDS2832.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636002	0.87760	.	.	ENSG00000114738	ENST00000446044;ENST00000430409;ENST00000357955	T;T;T	0.51817	0.69;0.69;0.69	5.41	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.174930	0.46145	D	0.000316	T	0.51092	0.1654	L	0.39397	1.21	0.47659	D	0.999484	D	0.55800	0.973	P	0.51918	0.684	T	0.55642	-0.8109	10	0.72032	D	0.01	-33.135	15.1711	0.72875	0.0:0.0:0.8574:0.1425	.	148	Q16644	MAPK3_HUMAN	Q	148	ENSP00000396467:R148Q;ENSP00000410970:R148Q;ENSP00000350639:R148Q	ENSP00000350639:R148Q	R	+	2	0	MAPKAPK3	50654706	1.000000	0.71417	0.992000	0.48379	0.863000	0.49368	3.174000	0.50847	1.273000	0.44346	0.491000	0.48974	CGG		0.562	MAPKAPK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346237.1	NM_004635		8	60	0	0	0	0.047766	0	8	60				
DBNL	28988	broad.mit.edu	37	7	44089851	44089851	+	Silent	SNP	C	C	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:44089851C>T	ENST00000448521.1	+	2	209	c.111C>T	c.(109-111)agC>agT	p.S37S	DBNL_ENST00000468694.1_Silent_p.S37S|DBNL_ENST00000490734.2_Missense_Mutation_p.A5V|DBNL_ENST00000452943.1_Silent_p.S37S|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Silent_p.S37S|DBNL_ENST00000494774.1_Silent_p.S37S|DBNL_ENST00000440166.1_Intron	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	37	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AAGGCAACAGCAATGACATCC	0.557																																					NSCLC(68;573 1327 18604 34760 37992)	ENST00000490734.2																			0				breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						c.(13-15)gCa>gTa		drebrin-like							163.0	142.0	149.0					7																	44089851		2203	4300	6503	SO:0001819	synonymous_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44089851C>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.111C>T	7.37:g.44089851C>T						DBNL_ENST00000440166.1_Intron|DBNL_ENST00000468694.1_Silent_p.S37S|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000456905.1_Silent_p.S37S|DBNL_ENST00000494774.1_Silent_p.S37S|DBNL_ENST00000448521.1_Silent_p.S37S|DBNL_ENST00000452943.1_Silent_p.S37S	p.A5V			Q9UJU6	DBNL_HUMAN			2	129	+			0			ADF-H.		A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Missense_Mutation	SNP	ENST00000448521.1	37	c.14C>T	CCDS34623.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033022	0.93575	.	.	ENSG00000136279	ENST00000490734;ENST00000539475	T	0.18174	2.23	5.41	5.41	0.78517	.	.	.	.	.	T	0.36110	0.0955	.	.	.	0.30494	N	0.771122	.	.	.	.	.	.	T	0.16335	-1.0406	6	0.72032	D	0.01	-49.0765	18.8965	0.92426	0.0:1.0:0.0:0.0	.	.	.	.	V	5	ENSP00000417749:A5V	ENSP00000417749:A5V	A	+	2	0	DBNL	44056376	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.587000	0.53957	2.553000	0.86117	0.650000	0.86243	GCA		0.557	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		7	106	0	0	0	0.038147	0	7	106				
TAB3	257397	broad.mit.edu	37	X	30873051	30873051	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chrX:30873051G>A	ENST00000378933.1	-	3	908	c.731C>T	c.(730-732)aCt>aTt	p.T244I	TAB3_ENST00000378932.2_Missense_Mutation_p.T244I|TAB3_ENST00000378930.3_Missense_Mutation_p.T244I|TAB3_ENST00000288422.2_Missense_Mutation_p.T244I|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	244	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTCTGAGGAGTTTGTCTTCC	0.463																																					Pancreas(164;1598 1985 29022 43301 49529)	ENST00000378933.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						c.(730-732)aCt>aTt		TGF-beta activated kinase 1/MAP3K7 binding protein 3							60.0	54.0	56.0					X																	30873051		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873051G>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.731C>T	X.37:g.30873051G>A	ENSP00000368215:p.Thr244Ile					TAB3_ENST00000288422.2_Missense_Mutation_p.T244I|TAB3_ENST00000378932.2_Missense_Mutation_p.T244I|TAB3_ENST00000378930.3_Missense_Mutation_p.T244I	p.T244I	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN			3	908	-			244			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.731C>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840003	0.51057	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.86	4.83	3.89	0.44902	.	0.088885	0.85682	D	0.000000	T	0.75510	0.3859	L	0.40543	1.245	0.35350	D	0.78726	D;D	0.64830	0.994;0.99	P;P	0.54759	0.76;0.58	D	0.83530	0.0090	10	0.72032	D	0.01	-5.1467	13.9414	0.64057	0.0:0.149:0.8509:0.0	.	244;244	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	I	244	ENSP00000368215:T244I;ENSP00000368212:T244I;ENSP00000288422:T244I;ENSP00000368214:T244I	ENSP00000288422:T244I	T	-	2	0	TAB3	30782972	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	4.938000	0.63519	2.123000	0.65237	0.544000	0.68410	ACT		0.463	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		8	9	0	0	0	0.038147	0	8	9				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	30	0	0	0	0.009096	0	4	30				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	50	1	0	0.000602214	0.014758	0.000883248	5	50				
MAU2	23383	broad.mit.edu	37	19	19460201	19460201	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr19:19460201C>T	ENST00000392313.6	+	16	1683	c.1504C>T	c.(1504-1506)Ctc>Ttc	p.L502F	MAU2_ENST00000262815.8_Missense_Mutation_p.L502F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	502					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						AGCCTGCTCCCTCGTGCTTCT	0.592																																						ENST00000392313.5																			0				NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1504-1506)Ctc>Ttc		MAU2 sister chromatid cohesion factor							151.0	146.0	148.0					19																	19460201		2203	4300	6503	SO:0001583	missense	23383				cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding	g.chr19:19460201C>T	AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"""sister chromatid cohesion 4"""	614560	"""KIAA0892"", ""MAU2 chromatid cohesion factor homolog (C. elegans)"""	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1504C>T	19.37:g.19460201C>T	ENSP00000376127:p.Leu502Phe					MAU2_ENST00000262815.8_Missense_Mutation_p.L502F	p.L502F	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN			16	1550	+			502					Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	ENST00000392313.6	37	c.1504C>T	CCDS32969.2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165163	0.57476	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	T;T	0.66995	-0.24;-0.24	4.97	4.97	0.65823	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.75510	0.3859	L	0.55990	1.75	0.80722	D	1	D;D;P	0.69078	0.997;0.991;0.906	D;D;P	0.75484	0.986;0.934;0.649	T	0.75488	-0.3300	10	0.48119	T	0.1	.	10.4476	0.44503	0.0:0.9095:0.0:0.0905	.	78;107;502	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	F	502	ENSP00000376127:L502F;ENSP00000262815:L502F	ENSP00000262815:L502F	L	+	1	0	MAU2	19321201	1.000000	0.71417	0.936000	0.37596	0.410000	0.31052	5.656000	0.67988	2.323000	0.78572	0.561000	0.74099	CTC		0.592	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316748.6	NM_015329		6	173	0	0	0	0.021553	0	6	173				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	65	0	0	0	0.115264	0	3	65				
PCNT	5116	broad.mit.edu	37	21	47783688	47783688	+	Silent	SNP	G	G	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr21:47783688G>A	ENST00000359568.5	+	14	2555	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	816					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTTGACGGAGCAGCAGGGCC	0.607																																						ENST00000359568.5																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(2446-2448)gaG>gaA		pericentrin							58.0	61.0	60.0					21																	47783688		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47783688G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2448G>A	21.37:g.47783688G>A						PCNT_ENST00000480896.1_3'UTR	p.E816E	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			14	2555	+	Breast(49;0.112)		816					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.2448G>A	CCDS33592.1																																																																																				0.607	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		3	105	0	0	0	0.115264	0	3	105				
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	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		80	85	0	0	0	0.139131	0	80	85				
SCN2A	6326	broad.mit.edu	37	2	166231282	166231282	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr2:166231282A>G	ENST00000375437.2	+	22	4350	c.4060A>G	c.(4060-4062)Atg>Gtg	p.M1354V	SCN2A_ENST00000357398.3_Missense_Mutation_p.M1354V|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1354V|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1354V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1354					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTCAGTATCATGGGAGTGAA	0.398																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(4060-4062)Atg>Gtg		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						166.0	156.0	159.0					2																	166231282		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231282A>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4060A>G	2.37:g.166231282A>G	ENSP00000364586:p.Met1354Val					SCN2A_ENST00000357398.3_Missense_Mutation_p.M1354V|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1354V|SCN2A_ENST00000283256.6_Missense_Mutation_p.M1354V	p.M1354V	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			22	4350	+			1354					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4060A>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.594273	0.66219	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	4.41	4.41	0.53225	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98298	0.9436	L	0.50919	1.6	0.54753	D	0.999989	P;P	0.49358	0.923;0.913	P;D	0.73708	0.591;0.981	D	0.99170	1.0864	10	0.59425	D	0.04	.	13.9571	0.64155	1.0:0.0:0.0:0.0	.	1354;1354	Q99250-2;Q99250	.;SCN2A_HUMAN	V	1354	ENSP00000364586:M1354V;ENSP00000349973:M1354V;ENSP00000283256:M1354V;ENSP00000364576:M1354V	ENSP00000283256:M1354V	M	+	1	0	SCN2A	165939528	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	9.287000	0.95975	1.751000	0.51876	0.383000	0.25322	ATG		0.398	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		3	84	0	0	0	0.115264	0	3	84				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	65	0	0	0	0.115264	0	3	65				
MED6	10001	broad.mit.edu	37	14	71051560	71051560	+	Silent	SNP	G	G	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr14:71051560G>A	ENST00000256379.5	-	8	740	c.711C>T	c.(709-711)ggC>ggT	p.G237G	MED6_ENST00000430055.2_Silent_p.G244G|MED6_ENST00000440435.2_3'UTR|MED6_ENST00000554963.1_Silent_p.G237G	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	237					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		TTTCAGGGGGGCCTTTAGCAC	0.448																																						ENST00000256379.5																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(709-711)ggC>ggT		mediator complex subunit 6							223.0	195.0	204.0					14																	71051560		2203	4300	6503	SO:0001819	synonymous_variant	10001				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity	g.chr14:71051560G>A	BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.711C>T	14.37:g.71051560G>A						MED6_ENST00000440435.2_3'UTR|MED6_ENST00000554963.1_Silent_p.G237G|MED6_ENST00000430055.2_Silent_p.G244G	p.G237G	NM_005466.2	NP_005457.2	O75586	MED6_HUMAN		all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)	8	740	-			237					B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Silent	SNP	ENST00000256379.5	37	c.711C>T	CCDS9805.1																																																																																				0.448	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466		12	129	0	0	0	0.080935	0	12	129				
MED31	51003	broad.mit.edu	37	17	6553725	6553725	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr17:6553725C>A	ENST00000225728.3	-	2	162	c.57G>T	c.(55-57)caG>caT	p.Q19H	MED31_ENST00000574128.1_5'UTR|MED31_ENST00000575197.1_Missense_Mutation_p.Q19H|C17orf100_ENST00000391428.2_5'Flank	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	19					gene expression (GO:0010467)|limb development (GO:0060173)|negative regulation of fibroblast proliferation (GO:0048147)|protein complex assembly (GO:0006461)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(1)	3						CCAACTCCAACTGAAACCGAA	0.348																																						ENST00000225728.3																			0				cervix(1)|endometrium(1)|large_intestine(1)	3						c.(55-57)caG>caT		mediator complex subunit 31							120.0	114.0	116.0					17																	6553725		2203	4300	6503	SO:0001583	missense	51003				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:6553725C>A	AF151883	CCDS11078.1	17p13.1	2007-07-30	2007-07-30		ENSG00000108590	ENSG00000108590			24260	protein-coding gene	gene with protein product			"""mediator of RNA polymerase II transcription, subunit 31 homolog (S. cerevisiae)"""			10810093	Standard	NM_016060		Approved	CGI-125, Soh1	uc002gdg.4	Q9Y3C7	OTTHUMG00000102051	ENST00000225728.3:c.57G>T	17.37:g.6553725C>A	ENSP00000225728:p.Gln19His					MED31_ENST00000575197.1_Missense_Mutation_p.Q19H|MED31_ENST00000574128.1_5'UTR	p.Q19H	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN			2	162	-			19					B2R4L9	Missense_Mutation	SNP	ENST00000225728.3	37	c.57G>T	CCDS11078.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726570	0.48833	.	.	ENSG00000108590	ENST00000225728	.	.	.	5.71	2.62	0.31277	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.82132	2.575	0.80722	D	1	B	0.32302	0.363	B	0.36378	0.223	T	0.65425	-0.6171	9	0.52906	T	0.07	0.8509	10.2417	0.43316	0.0:0.7663:0.0:0.2337	.	19	Q9Y3C7	MED31_HUMAN	H	19	.	ENSP00000225728:Q19H	Q	-	3	2	MED31	6494449	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.173000	0.31920	0.891000	0.36235	-0.252000	0.11476	CAG		0.348	MED31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219852.1	NM_016060		10	108	1	0	7.48243e-07	0.058154	1.13527e-06	10	108				
LRRC37A2	474170	broad.mit.edu	37	17	44594556	44594556	+	Intron	SNP	G	G	A			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr17:44594556G>A	ENST00000576629.1	+	3	3104				ARL17A_ENST00000337845.7_Missense_Mutation_p.A190V|LRRC37A2_ENST00000333412.3_Intron|ARL17A_ENST00000329240.4_Silent_p.C101C|ARL17A_ENST00000445552.2_Silent_p.C101C			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CGGTGACCCCGCATAATTTCT	0.413																																						ENST00000337845.7																			0				lung(1)	1						c.(568-570)gCg>gTg		ADP-ribosylation factor-like 17A																																				SO:0001627	intron_variant	51326				protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding	g.chr17:44594556G>A	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.2610-172G>A	17.37:g.44594556G>A						ARL17A_ENST00000329240.4_Silent_p.C101C|LRRC37A2_ENST00000333412.3_Intron|LRRC37A2_ENST00000576629.1_Intron|ARL17A_ENST00000445552.2_Silent_p.C101C	p.A190V			Q8IVW1	ARL17_HUMAN			5	707	-			0					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.569C>T	CCDS42353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.60|10.60	1.396455|1.396455	0.25205|0.25205	.|.	.|.	ENSG00000185829|ENSG00000185829	ENST00000337845|ENST00000358484	T|.	0.62639|.	0.01|.	2.51|2.51	0.0229|0.0229	0.14135|0.14135	.|.	.|.	.|.	.|.	.|.	T|T	0.37865|0.37865	0.1019|0.1019	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38607|0.38607	-0.9653|-0.9653	6|5	0.87932|0.87932	D|D	0|0	.|.	4.7532|4.7532	0.13071|0.13071	0.6779:0.0:0.3221:0.0|0.6779:0.0:0.3221:0.0	.|.	.|.	.|.	.|.	V|W	190|125	ENSP00000338611:A190V|.	ENSP00000338611:A190V|ENSP00000351272:R125W	A|R	-|-	2|1	0|2	ARL17A|ARL17A	41949872|41949872	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.040000|0.040000	0.13550|0.13550	-0.566000|-0.566000	0.05922|0.05922	-0.011000|-0.011000	0.14247|0.14247	0.175000|0.175000	0.17021|0.17021	GCG|CGG		0.413	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		5	153	0	0	0	0.014758	0	5	153				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	29	0	0	0	0.021553	0	5	29				
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	byFrequency	TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - Missense(2)	p.Q78R(2)	lung(1)|endometrium(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(232-234)cAg>cGg		major histocompatibility complex, class I, A							54.0	57.0	56.0					6																	29910693		2203	4299	6502	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910693A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.233A>G	6.37:g.29910693A>G	ENSP00000379873:p.Gln78Arg	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R	p.Q78R			P30443	1A01_HUMAN			4	574	+			78			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.233A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	9.798	1.179669	0.21787	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	T;T;T;T	0.00784	5.7;5.7;5.7;5.7	3.72	-4.39	0.03611	MHC class I, alpha chain, alpha1/alpha2 (3);MHC classes I/II-like antigen recognition protein (3);MHC class I-like antigen recognition (3);	1.398580	0.06189	N	0.681068	T	0.00815	0.0027	L	0.56280	1.765	0.09310	N	1	B;P;B;P;B	0.42483	0.0;0.781;0.0;0.781;0.0	B;D;B;D;B	0.71184	0.006;0.972;0.01;0.972;0.01	T	0.44952	-0.9294	10	0.87932	D	0	.	0.9552	0.01384	0.3504:0.1689:0.3159:0.1647	rs41559716	78;78;78;78;78	P13746;Q5SRN7;P16188;Q5SRN5;P04439	1A11_HUMAN;.;1A30_HUMAN;.;1A03_HUMAN	R	78	ENSP00000379873:Q78R;ENSP00000366002:Q78R;ENSP00000366005:Q78R;ENSP00000365998:Q78R	ENSP00000348012:Q78R	Q	+	2	0	HLA-A	30018672	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.990000	0.03732	-0.910000	0.03847	-0.450000	0.05554	CAG		0.657	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		3	30	0	0	0	0.047766	0	3	30				
CHD9	80205	broad.mit.edu	37	16	53340255	53340255	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr16:53340255G>T	ENST00000398510.3	+	31	6813	c.6726G>T	c.(6724-6726)gaG>gaT	p.E2242D	CHD9_ENST00000566029.1_Missense_Mutation_p.E2242D|CHD9_ENST00000447540.1_Missense_Mutation_p.E2243D|CHD9_ENST00000564845.1_Missense_Mutation_p.E2242D			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2242					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGACACCAGAGTCTGCTTATA	0.408																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(6724-6726)gaG>gaT		chromodomain helicase DNA binding protein 9							85.0	85.0	85.0					16																	53340255		1896	4112	6008	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53340255G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.6726G>T	16.37:g.53340255G>T	ENSP00000381522:p.Glu2242Asp					CHD9_ENST00000398510.3_Missense_Mutation_p.E2242D|CHD9_ENST00000447540.1_Missense_Mutation_p.E2243D|CHD9_ENST00000564845.1_Missense_Mutation_p.E2242D	p.E2242D			Q3L8U1	CHD9_HUMAN			32	6935	+		all_cancers(37;0.0212)	2242					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.6726G>T		.	.	.	.	.	.	.	.	.	.	G	13.65	2.300562	0.40694	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D;D	0.86956	-2.12;-2.19	5.88	1.39	0.22231	.	0.312532	0.27831	N	0.017667	T	0.75162	0.3812	N	0.14661	0.345	0.24747	N	0.993005	P;P;B;P;P	0.50943	0.584;0.9;0.0;0.92;0.94	B;B;B;P;P	0.50440	0.138;0.438;0.003;0.52;0.641	T	0.65721	-0.6099	10	0.17832	T	0.49	-9.9875	1.756	0.02982	0.1722:0.1032:0.3928:0.3318	.	308;2242;2243;2242;2242	C9JR69;B7ZML1;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;.;CHD9_HUMAN;.	D	2243;2242;308	ENSP00000396345:E2243D;ENSP00000381522:E2242D	ENSP00000381522:E2242D	E	+	3	2	CHD9	51897756	1.000000	0.71417	0.995000	0.50966	0.714000	0.41099	1.233000	0.32648	0.393000	0.25203	-0.181000	0.13052	GAG		0.408	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		8	31	1	0	0.00448238	0.047766	0.00636209	8	31				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	53	0	0	0	0.014758	0	5	53				
FASTK	10922	broad.mit.edu	37	7	150774839	150774839	+	Silent	SNP	G	G	C			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:150774839G>C	ENST00000297532.6	-	6	1145	c.1068C>G	c.(1066-1068)cgC>cgG	p.R356R	FASTK_ENST00000540185.1_3'UTR|FASTK_ENST00000353841.2_Silent_p.R215R|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Silent_p.R329R	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	356					apoptotic signaling pathway (GO:0097190)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|Fas-activated serine/threonine kinase activity (GO:0033867)|protein serine/threonine kinase activity (GO:0004674)			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		GGGAGAGGTAGCGACGCACAA	0.692																																						ENST00000297532.6																			0				lung(4)|stomach(2)	6						c.(1066-1068)cgC>cgG		Fas-activated serine/threonine kinase							38.0	46.0	43.0					7																	150774839		2203	4300	6503	SO:0001819	synonymous_variant	10922				apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding	g.chr7:150774839G>C		CCDS5918.1, CCDS5919.1, CCDS59088.1	7q35	2006-07-06			ENSG00000164896	ENSG00000164896			24676	protein-coding gene	gene with protein product		606965				7544399, 15572676	Standard	NM_006712		Approved	FAST	uc003wix.2	Q14296	OTTHUMG00000158694	ENST00000297532.6:c.1068C>G	7.37:g.150774839G>C						FASTK_ENST00000482571.1_Silent_p.R329R|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000353841.2_Silent_p.R215R|FASTK_ENST00000540185.1_3'UTR	p.R356R	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)	6	1145	-			356					A8K867|F8VTW9|Q59EM8|Q8IVA0	Silent	SNP	ENST00000297532.6	37	c.1068C>G	CCDS5918.1																																																																																				0.692	FASTK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351832.2	NM_006712		3	51	0	0	0	0.115264	0	3	51				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000420871.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	45	0	0	0	0.014758	0	5	45				
NPHS1	4868	broad.mit.edu	37	19	36333350	36333350	+	Missense_Mutation	SNP	C	C	T	rs374846352		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr19:36333350C>T	ENST00000378910.5	-	18	2436	c.2437G>A	c.(2437-2439)Gct>Act	p.A813T	NPHS1_ENST00000353632.6_Missense_Mutation_p.A813T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	813	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACTGGTAAGCGCCAGCCTGG	0.572																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2437-2439)Gct>Act		nephrosis 1, congenital, Finnish type (nephrin)		C	THR/ALA	0,4406		0,0,2203	88.0	82.0	84.0		2437	2.1	1.0	19		84	2,8598	2.2+/-6.3	0,2,4298	no	missense	NPHS1	NM_004646.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	813/1242	36333350	2,13004	2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333350C>T		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2437G>A	19.37:g.36333350C>T	ENSP00000368190:p.Ala813Thr					NPHS1_ENST00000353632.6_Missense_Mutation_p.A813T	p.A813T	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		18	2436	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		813			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2437G>A	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691353	0.48097	0.0	2.33E-4	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.10860	2.83;2.83	4.46	2.14	0.27477	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.233434	0.36303	N	0.002679	T	0.05777	0.0151	N	0.05534	-0.03	0.24836	N	0.992494	D	0.54397	0.966	P	0.44860	0.462	T	0.39502	-0.9611	10	0.21540	T	0.41	-6.4368	10.2784	0.43523	0.0:0.5805:0.4195:0.0	.	813	O60500	NPHN_HUMAN	T	813	ENSP00000368190:A813T;ENSP00000343634:A813T	ENSP00000343634:A813T	A	-	1	0	NPHS1	41025190	0.519000	0.26242	0.985000	0.45067	0.893000	0.52053	1.167000	0.31847	1.087000	0.41251	0.558000	0.71614	GCT		0.572	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			52	70	0	0	0	0.139131	0	52	70				
PCDHB16	57717	broad.mit.edu	37	5	140563836	140563836	+	Missense_Mutation	SNP	G	G	A	rs535302272	byFrequency	TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr5:140563836G>A	ENST00000361016.2	+	1	2857	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	568	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCAGAACGGCTCCGCGCC	0.711													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13663	0.0		0.0	False		,,,				2504	0.001					ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1702-1704)Ggc>Agc									14.0	17.0	16.0					5																	140563836		1969	3923	5892	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563836G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1702G>A	5.37:g.140563836G>A	ENSP00000354293:p.Gly568Ser						p.G568S	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2857	+			568			Cadherin 6.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1702G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	12.66	2.005258	0.35415	.	.	ENSG00000196963	ENST00000361016	T	0.60797	0.16	4.12	2.28	0.28536	Cadherin (1);Cadherin-like (1);	1.832600	0.03875	N	0.276324	T	0.41719	0.1171	N	0.20807	0.61	0.09310	N	1	B	0.22003	0.063	B	0.17979	0.02	T	0.27123	-1.0083	10	0.45353	T	0.12	.	3.1416	0.06457	0.2646:0.0:0.4112:0.3242	.	568	Q9NRJ7	PCDBG_HUMAN	S	568	ENSP00000354293:G568S	ENSP00000354293:G568S	G	+	1	0	PCDHB16	140544020	0.000000	0.05858	0.984000	0.44739	0.978000	0.69477	0.941000	0.29005	0.212000	0.20703	0.479000	0.44913	GGC		0.711	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		4	79	0	0	0	0.009096	0	4	79				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			5	38	0	0	0	0.021553	0	5	38				
TNPO3	23534	broad.mit.edu	37	7	128641196	128641196	+	Silent	SNP	C	C	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr7:128641196C>T	ENST00000265388.5	-	6	932	c.789G>A	c.(787-789)ttG>ttA	p.L263L	TNPO3_ENST00000482320.1_Silent_p.L197L|TNPO3_ENST00000393245.1_Silent_p.L263L|TNPO3_ENST00000471166.1_Silent_p.L263L|TNPO3_ENST00000471234.1_Silent_p.L263L			Q9Y5L0	TNPO3_HUMAN	transportin 3	263					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TGGCTAATGGCAAGTTAGTCT	0.463																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(787-789)ttG>ttA		transportin 3							252.0	221.0	231.0					7																	128641196		2203	4300	6503	SO:0001819	synonymous_variant	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128641196C>T	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.789G>A	7.37:g.128641196C>T						TNPO3_ENST00000265388.5_Silent_p.L263L|TNPO3_ENST00000471166.1_Silent_p.L263L|TNPO3_ENST00000471234.1_Silent_p.L263L|TNPO3_ENST00000482320.1_Silent_p.L197L	p.L263L	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			6	1162	-			263					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	c.789G>A	CCDS5809.1																																																																																				0.463	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		61	107	0	0	0	0.139131	0	61	107				
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			2	Substitution - coding silent(2)	p.V49V(2)	lung(1)|kidney(1)	central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(145-147)gtG>gtC		major histocompatibility complex, class I, A																																				SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910607G>C	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.147G>C	6.37:g.29910607G>C		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V	p.V49V			P30443	1A01_HUMAN			4	488	+			49			Alpha-1.		O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.147G>C	CCDS34373.1																																																																																				0.692	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		5	55	0	0	0	0.021553	0	5	55				
SIGMAR1	10280	broad.mit.edu	37	9	34637622	34637622	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr9:34637622delC	ENST00000277010.4	-	1	146	c.73delG	c.(73-75)gtcfs	p.V26fs	SIGMAR1_ENST00000477726.1_Frame_Shift_Del_p.V26fs|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000378892.1_5'UTR	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	26					cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	AGCCAGACGACCTGGGTCAGC	0.726																																						ENST00000277010.4																			0				large_intestine(1)|lung(1)	2						c.(73-75)tcfs		sigma non-opioid intracellular receptor 1	Dextromethorphan(DB00514)						11.0	12.0	11.0					9																	34637622		2152	4205	6357	SO:0001589	frameshift_variant	10280				ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding	g.chr9:34637622delC	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.73delG	9.37:g.34637622delC	ENSP00000277010:p.Val26fs					SIGMAR1_ENST00000378892.1_5'UTR|SIGMAR1_ENST00000477726.1_Frame_Shift_Del_p.V26fs|SIGMAR1_ENST00000461426.1_5'UTR	p.V26fs	NM_005866.2	NP_005857.1	Q99720	SGMR1_HUMAN			1	146	-			26					D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	Frame_Shift_Del	DEL	ENST00000277010.4	37	c.73delG	CCDS6562.1																																																																																				0.726	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052204.1	NM_005866		2	4						2	4	---	---	---	---
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																						ENST00000252244.3																			3	Deletion - In frame(3)	p.S557_G563delSSYGSGG(3)	prostate(2)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1654-1677)tac>ta		keratin 1				1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del						p.YGSGGSSY552del	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1714_1734	-			552			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		3	5						3	5	---	---	---	---
GOLGA6B	55889	broad.mit.edu	37	15	72957311	72957313	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr15:72957311_72957313delGAG	ENST00000421285.3	+	14	1528_1530	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E513del	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	513						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGGACAGTGAGGAGGAGGAGG	0.635																																						ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1528-1530)del		golgin A6 family, member B				15,2317		3,9,1154						-0.8	0.0			8	86,2952		19,48,1452	no	coding	GOLGA6B	NM_018652.4		22,57,2606	A1A1,A1R,RR		2.8308,0.6432,1.8808				101,5269				SO:0001651	inframe_deletion	55889							g.chr15:72957311_72957313delGAG		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1528_1530delGAG	15.37:g.72957320_72957322delGAG	ENSP00000408132:p.Glu513del						p.E513del	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			14	1528_1530	+			513					A8MYY7	In_Frame_Del	DEL	ENST00000421285.3	37	c.1528_1530delGAG	CCDS10245.2																																																																																				0.635	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		3	6						3	6	---	---	---	---
LOC101926911	101926911	broad.mit.edu	37	15	91573877	91573878	+	RNA	INS	-	-	T			TCGA-EL-A3GW-01A-11D-A202-08	TCGA-EL-A3GW-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f3f423d-d21f-4330-9986-26097a9378e7	cd043df0-4d9a-45c5-8a09-4da1761f4f78	g.chr15:91573877_91573878insT	ENST00000557804.1	+	0	354				AC068831.10_ENST00000556904.1_RNA|AC068831.10_ENST00000501381.3_RNA																							TACAGTGCTTATTTTTTTCCAG	0.396																																						ENST00000557804.1																			0																																																			0							g.chr15:91573877_91573878insT																													15.37:g.91573884_91573884dupT						AC068831.10_ENST00000501381.3_RNA|AC068831.10_ENST00000556904.1_RNA								0	354	+									RNA	INS	ENST00000557804.1	37																																																																																						0.396	AC068831.10-004	KNOWN	basic	antisense	antisense	OTTHUMT00000418639.1			2	4						2	4	---	---	---	---
