#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FCRL4	83417	broad.mit.edu	37	1	157551405	157551405	+	Missense_Mutation	SNP	C	C	T	rs143188744	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:157551405C>T	ENST00000271532.1	-	7	1300	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	389					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A389T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTCCCGCGGCGACAAGGCCA	0.572													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18704	0.0		0.0	False		,,,				2504	0.0					ENST00000271532.1																			1	Substitution - Missense(1)	p.A389T(1)	prostate(1)	breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1165-1167)Gcc>Acc		Fc receptor-like 4		C	THR/ALA	10,4396	16.8+/-37.8	0,10,2193	45.0	43.0	44.0		1165	-0.8	0.0	1	dbSNP_134	44	0,8600		0,0,4300	yes	missense	FCRL4	NM_031282.2	58	0,10,6493	TT,TC,CC		0.0,0.227,0.0769	benign	389/516	157551405	10,12996	2203	4300	6503	SO:0001583	missense	83417					integral to membrane|plasma membrane	receptor activity	g.chr1:157551405C>T	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1165G>A	1.37:g.157551405C>T	ENSP00000271532:p.Ala389Thr		Somatic				FCRL4_ENST00000448509.2_5'UTR	p.A389T	NM_031282.2	NP_112572.1	WXS	Illumina GAIIx	Phase_I	Q96PJ5	FCRL4_HUMAN			7	1300	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)	389					Q96PJ3|Q96RE0	Missense_Mutation	SNP	ENST00000271532.1	37	c.1165G>A	CCDS1166.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.09	1.253832	0.22965	0.00227	0.0	ENSG00000163518	ENST00000271532	T	0.21734	1.99	4.63	-0.756	0.11057	.	0.894203	0.09252	N	0.827770	T	0.02970	0.0088	N	0.17248	0.465	0.09310	N	1	B	0.21905	0.062	B	0.15870	0.014	T	0.45469	-0.9259	10	0.25106	T	0.35	.	4.5624	0.12166	0.0:0.4681:0.1564:0.3756	.	389	Q96PJ5	FCRL4_HUMAN	T	389	ENSP00000271532:A389T	ENSP00000271532:A389T	A	-	1	0	FCRL4	155818029	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.293000	0.08320	-0.061000	0.13110	-0.444000	0.05651	GCC		0.572	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086180.1	NM_031282		5	44	5	44	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186147655	186147655	+	Missense_Mutation	SNP	G	G	A	rs144069476	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:186147655G>A	ENST00000271588.4	+	104	16280	c.16051G>A	c.(16051-16053)Ggg>Agg	p.G5351R	HMCN1_ENST00000367492.2_Intron|GS1-174L6.4_ENST00000428391.1_RNA	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5351	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.G5351W(1)|p.G5351R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTAGGGGACGGGAAATCTTG	0.483													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18213	0.0		0.0	False		,,,				2504	0.0					ENST00000271588.4																			2	Substitution - Missense(2)	p.G5351W(1)|p.G5351R(1)	prostate(1)|lung(1)	NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(16051-16053)Ggg>Agg		hemicentin 1		G	ARG/GLY	0,4406		0,0,2203	160.0	161.0	160.0		16051	5.8	1.0	1	dbSNP_134	160	1,8599	1.2+/-3.3	0,1,4299	no	missense	HMCN1	NM_031935.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	5351/5636	186147655	1,13005	2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186147655G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16051G>A	1.37:g.186147655G>A	ENSP00000271588:p.Gly5351Arg		Somatic				HMCN1_ENST00000367492.2_Intron	p.G5351R	NM_031935.2	NP_114141.2	WXS	Illumina GAIIx	Phase_I	Q96RW7	HMCN1_HUMAN			104	16280	+			5351			EGF-like 6; calcium-binding (Potential).		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16051G>A	CCDS30956.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.7	4.186400	0.78789	0.0	1.16E-4	ENSG00000143341	ENST00000271588	D	0.89343	-2.5	5.77	5.77	0.91146	Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93892	0.7180	10	0.72032	D	0.01	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	5351	Q96RW7	HMCN1_HUMAN	R	5351	ENSP00000271588:G5351R	ENSP00000271588:G5351R	G	+	1	0	HMCN1	184414278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.885000	0.99019	0.655000	0.94253	GGG		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		11	333	11	333	---	---	---	---
UBR3	130507	broad.mit.edu	37	2	170930058	170930058	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr2:170930058A>G	ENST00000272793.5	+	36	5190	c.5140A>G	c.(5140-5142)Ata>Gta	p.I1714V	UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V|UBR3_ENST00000392631.1_Missense_Mutation_p.I535V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1714					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I567V(1)|p.I1714V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTTGATATTATAACTCAGTG	0.418																																						ENST00000272793.5																			2	Substitution - Missense(2)	p.I567V(1)|p.I1714V(1)	prostate(2)	breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(5140-5142)Ata>Gta		ubiquitin protein ligase E3 component n-recognin 3 (putative)							120.0	116.0	117.0					2																	170930058		2203	4299	6502	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170930058A>G	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.5140A>G	2.37:g.170930058A>G	ENSP00000272793:p.Ile1714Val		Somatic				UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V|UBR3_ENST00000392631.1_Missense_Mutation_p.I535V	p.I1714V			WXS	Illumina GAIIx	Phase_I	Q6ZT12	UBR3_HUMAN			36	5190	+			1714					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.5140A>G		.	.	.	.	.	.	.	.	.	.	A	3.948	-0.012940	0.07727	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.31	4.07	0.47477	.	0.097389	0.64402	D	0.000001	T	0.27454	0.0674	N	0.16368	0.405	0.32023	N	0.60048	B;B;B	0.14438	0.001;0.01;0.001	B;B;B	0.16289	0.001;0.015;0.005	T	0.19844	-1.0293	10	0.08381	T	0.77	.	11.378	0.49739	0.8645:0.0:0.0:0.1355	.	1714;535;1743	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	V	1714;1743;1714;535;414	ENSP00000272793:I1714V;ENSP00000396068:I1714V;ENSP00000376408:I535V;ENSP00000389097:I414V	ENSP00000272793:I1714V	I	+	1	0	UBR3	170638304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.037000	0.49775	2.126000	0.65437	0.533000	0.62120	ATA		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		91	137	91	137	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38936053	38936053	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:38936053G>A	ENST00000302328.3	-	15	3004	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	SCN11A_ENST00000450244.1_Missense_Mutation_p.R936C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	936					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTGTGATGCGCTGTGCATTA	0.493																																						ENST00000450244.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(2806-2808)Cgc>Tgc		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)						231.0	232.0	232.0					3																	38936053		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936053G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2806C>T	3.37:g.38936053G>A	ENSP00000307599:p.Arg936Cys		Somatic				SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R936C	p.R936C			WXS	Illumina GAIIx	Phase_I	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	3004	-			936					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2806C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137390	0.37728	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.2	-5.89	0.02282	Sodium ion transport-associated (1);	3.917410	0.00496	N	0.000151	T	0.62780	0.2456	N	0.08118	0	0.09310	N	1	P	0.40050	0.7	B	0.38056	0.264	T	0.59931	-0.7361	10	0.62326	D	0.03	.	2.3266	0.04224	0.1481:0.3552:0.1419:0.3548	.	936	Q9UI33	SCNBA_HUMAN	C	936	ENSP00000307599:R936C;ENSP00000400945:R936C;ENSP00000416757:R936C;ENSP00000408028:R936C	ENSP00000307599:R936C	R	-	1	0	SCN11A	38911057	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-2.491000	0.00974	-0.676000	0.05238	0.650000	0.86243	CGC		0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		10	480	10	480	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41266098	41266098	+	Missense_Mutation	SNP	A	A	T	rs121913396|rs121913416		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:41266098A>T	ENST00000349496.5	+	3	375	c.95A>T	c.(94-96)gAc>gTc	p.D32V	CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|D -> G (in PTR and hepatocellular carcinoma). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629}.|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:11703283, ECO:0000269|PubMed:9927029}.|Missing (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	260	Deletion - In frame(120)|Substitution - Missense(114)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	liver(154)|large_intestine(24)|pancreas(19)|central_nervous_system(16)|stomach(14)|endometrium(7)|skin(7)|ovary(4)|prostate(3)|pituitary(3)|small_intestine(2)|NS(2)|adrenal_gland(1)|soft_tissue(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(94-96)gAc>gTc		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						92.0	77.0	82.0					3																	41266098		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41266098A>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.95A>T	3.37:g.41266098A>T	ENSP00000344456:p.Asp32Val		Somatic				CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V	p.D32V	NM_001904.3	NP_001895.1	WXS	Illumina GAIIx	Phase_I	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	3	375	+			32		D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).			A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.95A>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184569	0.78677	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.74325	-0.3702	10	0.87932	D	0	0.3843	16.0676	0.80897	1.0:0.0:0.0:0.0	.	32	P35222	CTNB1_HUMAN	V	25;32;32;32;32;25;32;32;32	ENSP00000400508:D25V;ENSP00000385604:D32V;ENSP00000412219:D32V;ENSP00000379486:D32V;ENSP00000344456:D32V;ENSP00000411226:D25V;ENSP00000379488:D32V;ENSP00000409302:D32V;ENSP00000401599:D32V	ENSP00000344456:D32V	D	+	2	0	CTNNB1	41241102	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	GAC		0.483	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		5	52	5	52	---	---	---	---
FHIT	2272	broad.mit.edu	37	3	59999869	59999869	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:59999869A>G	ENST00000468189.1	-	6	483	c.113T>C	c.(112-114)gTg>gCg	p.V38A	FHIT_ENST00000341848.4_Missense_Mutation_p.V38A|FHIT_ENST00000466788.1_Intron|FHIT_ENST00000476844.1_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_Missense_Mutation_p.V38A			P49789	FHIT_HUMAN	fragile histidine triad	38	HIT. {ECO:0000255|PROSITE- ProRule:PRU00464}.				DNA replication (GO:0006260)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide metabolic process (GO:0009117)|purine nucleotide metabolic process (GO:0006163)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|catalytic activity (GO:0003824)|hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|ubiquitin protein ligase binding (GO:0031625)	p.V38A(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CAGCGGGCACACAAGGACATC	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3																													ENST00000468189.1				Dom	yes		3	3p14.2	2272	T	fragile histidine triad gene			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - Missense(2)	p.V38A(2)	prostate(2)	NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12						c.(112-114)gTg>gCg		fragile histidine triad							69.0	69.0	69.0					3																	59999869		2203	4300	6503	SO:0001583	missense	2272	Renal Cell Cancer associated with constitutional translocation of chromosome 3	Familial Cancer Database		nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	g.chr3:59999869A>G	BC032336	CCDS2894.1	3p14.2	2012-02-27	2012-02-27		ENSG00000189283	ENSG00000189283			3701	protein-coding gene	gene with protein product		601153	"""fragile histidine triad gene"""			8598045, 9671749	Standard	NM_002012		Approved	FRA3B, AP3Aase	uc003dky.3	P49789	OTTHUMG00000158591	ENST00000468189.1:c.113T>C	3.37:g.59999869A>G	ENSP00000417480:p.Val38Ala		Somatic				FHIT_ENST00000341848.4_Missense_Mutation_p.V38A|FHIT_ENST00000492590.1_Missense_Mutation_p.V38A|FHIT_ENST00000476844.1_Missense_Mutation_p.V38A|FHIT_ENST00000466788.1_Intron	p.V38A			WXS	Illumina GAIIx	Phase_I	P49789	FHIT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)	6	483	-		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)	38			HIT.		A2IAS9|A2IAT0|A2IAT6|A8K1A9|Q45QG9|Q6IU12	Missense_Mutation	SNP	ENST00000468189.1	37	c.113T>C	CCDS2894.1	.	.	.	.	.	.	.	.	.	.	A	18.47	3.631744	0.67015	.	.	ENSG00000189283	ENST00000492590;ENST00000476844;ENST00000468189;ENST00000341848;ENST00000488467	D;D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62;-3.62	5.96	5.96	0.96718	Histidine triad motif (1);Histidine triad-like motif (1);	0.059439	0.64402	D	0.000003	D	0.98080	0.9367	H	0.96889	3.9	0.53688	D	0.999979	P	0.43885	0.82	P	0.59889	0.865	D	0.99019	1.0817	9	.	.	.	-17.1678	15.0195	0.71617	1.0:0.0:0.0:0.0	.	38	P49789	FHIT_HUMAN	A	38	ENSP00000418582:V38A;ENSP00000417557:V38A;ENSP00000417480:V38A;ENSP00000342087:V38A;ENSP00000418596:V38A	.	V	-	2	0	FHIT	59974909	1.000000	0.71417	0.987000	0.45799	0.095000	0.18619	7.833000	0.86765	2.285000	0.76669	0.533000	0.62120	GTG		0.542	FHIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351648.1	NM_002012		6	84	6	84	---	---	---	---
LIMCH1	22998	broad.mit.edu	37	4	41621299	41621299	+	Silent	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:41621299G>A	ENST00000313860.7	+	8	831	c.777G>A	c.(775-777)gaG>gaA	p.E259E	LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000513024.1_Silent_p.E100E|LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000511496.1_Silent_p.E100E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000512946.1_Silent_p.E259E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000396595.3_Silent_p.E105E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	259					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.E259E(1)|p.E100E(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCCATGGTGAGCCGAAATCAG	0.547																																						ENST00000313860.7																			2	Substitution - coding silent(2)	p.E259E(1)|p.E100E(1)	prostate(2)	central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(775-777)gaG>gaA		LIM and calponin homology domains 1							150.0	152.0	151.0					4																	41621299		2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41621299G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.777G>A	4.37:g.41621299G>A			Somatic				LIMCH1_ENST00000513024.1_Silent_p.E100E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000511496.1_Silent_p.E100E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000396595.3_Silent_p.E105E|LIMCH1_ENST00000509454.1_Silent_p.E107E|LIMCH1_ENST00000512946.1_Silent_p.E259E	p.E259E	NM_014988.2	NP_055803.2	WXS	Illumina GAIIx	Phase_I	Q9UPQ0	LIMC1_HUMAN			8	831	+			259					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.777G>A	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	G	1.326	-0.598209	0.03744	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.59	4.74	0.60224	.	.	.	.	.	T	0.54498	0.1862	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51896	-0.8647	4	.	.	.	-19.2104	5.6093	0.17396	0.2632:0.0:0.7368:0.0	.	.	.	.	N	94	.	.	S	+	2	0	LIMCH1	41316056	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	5.799000	0.69101	2.797000	0.96272	0.563000	0.77884	AGC		0.547	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		18	261	18	261	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554610	140554610	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:140554610C>T	ENST00000231137.3	+	1	2368	c.2194C>T	c.(2194-2196)Cga>Tga	p.R732*	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	732					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R732*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTTTCCACGACATCTGGT	0.637																																						ENST00000231137.3																			2	Substitution - Nonsense(2)	p.R732*(2)	ovary(1)|prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2194-2196)Cga>Tga									83.0	130.0	114.0					5																	140554610		2203	4300	6503	SO:0001587	stop_gained	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554610C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.2194C>T	5.37:g.140554610C>T	ENSP00000231137:p.Arg732*		Somatic					p.R732*	NM_018940.2	NP_061763.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2368	+			732					A1L3Y8	Nonsense_Mutation	SNP	ENST00000231137.3	37	c.2194C>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	c	37	6.157000	0.97334	.	.	ENSG00000113212	ENST00000231137	.	.	.	4.15	3.27	0.37495	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.6868	0.23150	0.1353:0.1746:0.69:0.0	.	.	.	.	X	732	.	ENSP00000231137:R732X	R	+	1	2	PCDHB7	140534794	0.013000	0.17824	0.615000	0.29064	0.019000	0.09904	1.837000	0.39201	0.853000	0.35312	-0.413000	0.06143	CGA		0.637	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		21	525	21	525	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110948346	110948346	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:110948346T>C	ENST00000368911.3	-	7	828	c.649A>G	c.(649-651)Ata>Gta	p.I217V	CDK19_ENST00000323817.3_Missense_Mutation_p.I157V|CDK19_ENST00000413605.2_Missense_Mutation_p.I93V	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	217	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.I217V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATTGCCCATATATCTGGGAAG	0.318																																						ENST00000368911.3																			1	Substitution - Missense(1)	p.I217V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						c.(649-651)Ata>Gta		cyclin-dependent kinase 19							79.0	78.0	78.0					6																	110948346		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110948346T>C	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.649A>G	6.37:g.110948346T>C	ENSP00000357907:p.Ile217Val		Somatic				CDK19_ENST00000323817.3_Missense_Mutation_p.I157V|CDK19_ENST00000413605.2_Missense_Mutation_p.I93V	p.I217V	NM_015076.3	NP_055891.1	WXS	Illumina GAIIx	Phase_I	Q9BWU1	CDK19_HUMAN			7	828	-			217			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.649A>G	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	T	19.47	3.834465	0.71373	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.39	5.39	0.77823	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	N	0.17312	0.475	0.80722	D	1	P;P	0.44946	0.846;0.846	P;P	0.55667	0.781;0.679	T	0.52328	-0.8590	10	0.27785	T	0.31	-15.9075	15.4145	0.74956	0.0:0.0:0.0:1.0	.	93;217	B4DUB1;Q9BWU1	.;CDK19_HUMAN	V	217;157;156;93;157	ENSP00000357907:I217V;ENSP00000317665:I157V;ENSP00000410604:I93V;ENSP00000415621:I157V	ENSP00000317665:I157V	I	-	1	0	CDK19	111055039	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	7.698000	0.84413	2.049000	0.60858	0.455000	0.32223	ATA		0.318	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		45	80	45	80	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378446	31378446	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr7:31378446A>G	ENST00000297142.3	-	2	759	c.437T>C	c.(436-438)cTt>cCt	p.L146P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	146	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.L146P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AATTTCAGAAAGTGCCCAGAT	0.443																																						ENST00000297142.3																			1	Substitution - Missense(1)	p.L146P(1)	prostate(1)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(436-438)cTt>cCt		neuronal differentiation 6							70.0	72.0	71.0					7																	31378446		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378446A>G	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.437T>C	7.37:g.31378446A>G	ENSP00000297142:p.Leu146Pro		Somatic					p.L146P	NM_022728.2	NP_073565.2	WXS	Illumina GAIIx	Phase_I	Q96NK8	NDF6_HUMAN			2	759	-			146			Helix-loop-helix motif.		Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.437T>C	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.637806	0.47049	.	.	ENSG00000164600	ENST00000297142	D	0.95918	-3.85	5.25	4.1	0.47936	Helix-loop-helix DNA-binding (5);	0.119152	0.64402	D	0.000018	D	0.98273	0.9428	H	0.98048	4.135	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	D	0.98023	1.0372	10	0.87932	D	0	-17.7651	10.911	0.47108	0.9261:0.0:0.0739:0.0	.	146	Q96NK8	NDF6_HUMAN	P	146	ENSP00000297142:L146P	ENSP00000297142:L146P	L	-	2	0	NEUROD6	31344971	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.281000	0.95811	0.844000	0.35094	0.528000	0.53228	CTT		0.443	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		42	94	42	94	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120569893	120569893	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:120569893C>T	ENST00000075322.6	-	25	2518	c.2460G>A	c.(2458-2460)atG>atA	p.M820I	ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I|ENPP2_ENST00000427067.2_Missense_Mutation_p.M841I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	820					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.M872I(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTGCATCTTCATGAGTTCTT	0.463																																					Melanoma(20;305 879 2501 4818 31020)	ENST00000427067.2																			2	Substitution - Missense(2)	p.M872I(2)	prostate(2)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69						c.(2521-2523)atG>atA		ectonucleotide pyrophosphatase/phosphodiesterase 2							208.0	187.0	194.0					8																	120569893		2203	4300	6503	SO:0001583	missense	5168				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	g.chr8:120569893C>T	D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2460G>A	8.37:g.120569893C>T	ENSP00000075322:p.Met820Ile		Somatic				ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000075322.6_Missense_Mutation_p.M820I|ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I	p.M841I			WXS	Illumina GAIIx	Phase_I	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		26	2703	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		820			Required for secretion (By similarity).		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	ENST00000075322.6	37	c.2523G>A	CCDS34936.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543152	0.45280	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.91	-9.18	0.00688	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.357143	0.34853	N	0.003634	T	0.08133	0.0203	N	0.12182	0.205	0.43698	D	0.996155	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.002	T	0.12091	-1.0561	10	0.42905	T	0.14	.	3.9898	0.09532	0.187:0.3603:0.3448:0.1079	.	358;845;820;872;455	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	I	872;841;455;845;820	ENSP00000259486:M872I;ENSP00000403315:M841I;ENSP00000429476:M455I;ENSP00000428291:M845I;ENSP00000075322:M820I	ENSP00000075322:M820I	M	-	3	0	ENPP2	120639074	0.528000	0.26314	0.687000	0.30102	0.984000	0.73092	-0.161000	0.10026	-1.617000	0.01570	-0.136000	0.14681	ATG		0.463	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			7	228	7	228	---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126132707	126132708	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:126132707_126132708CT>AA	ENST00000373631.3	+	7	1376_1377	c.1375_1376CT>AA	c.(1375-1377)CTg>AAg	p.L459K	CRB2_ENST00000373629.2_Missense_Mutation_p.L127K|CRB2_ENST00000359999.3_Missense_Mutation_p.L459K	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	459	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.L459Q(1)|p.L459M(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGTGGCCCCCTGGGTCTGGCA	0.614																																						ENST00000373631.3																			2	Substitution - Missense(2)	p.L459M(1)|p.L459Q(1)	prostate(2)	NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						c.(1375-1377)Ctg>Atg|c.(1375-1377)cTg>cAg		crumbs homolog 2 (Drosophila)																																				SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132707C>A|g.chr9:126132708T>A	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	Exception_encountered	9.37:g.126132707_126132708delinsAA	ENSP00000362734:p.Leu459Lys		Somatic				CRB2_ENST00000359999.3_Missense_Mutation_p.L459M|CRB2_ENST00000373629.2_Missense_Mutation_p.L127M|CRB2_ENST00000359999.3_Missense_Mutation_p.L459Q|CRB2_ENST00000373629.2_Missense_Mutation_p.L127Q	p.L459M|p.L459Q	NM_173689.5	NP_775960.4	WXS	Illumina GAIIx	Phase_I	Q5IJ48	CRUM2_HUMAN			7	1376|1377	+			459			Laminin G-like 1.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1375C>A|c.1376T>A	CCDS6852.2																																																																																				0.614	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		5	56|55	5	55	---	---	---	---
SH3GLB2	56904	broad.mit.edu	37	9	131772101	131772101	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:131772101T>C	ENST00000372564.3	-	9	933	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	263	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)		p.Y263C(1)		NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CTGTGCGTAGTAGGTTGTCTG	0.622																																						ENST00000372564.3																			1	Substitution - Missense(1)	p.Y263C(1)	prostate(1)	NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						c.(787-789)tAc>tGc		SH3-domain GRB2-like endophilin B2							73.0	66.0	69.0					9																	131772101		2203	4300	6503	SO:0001583	missense	56904				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	g.chr9:131772101T>C	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.788A>G	9.37:g.131772101T>C	ENSP00000361645:p.Tyr263Cys		Somatic				SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C	p.Y263C	NM_020145.2	NP_064530.1	WXS	Illumina GAIIx	Phase_I	Q9NR46	SHLB2_HUMAN			9	933	-			263			BAR.		A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	ENST00000372564.3	37	c.788A>G	CCDS6916.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.771913	0.90108	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224;ENST00000416629	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	5.38	5.38	0.77491	BAR (3);	0.122386	0.56097	D	0.000023	T	0.74275	0.3695	M	0.83953	2.67	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76575	0.937;0.988	T	0.78924	-0.2012	10	0.87932	D	0	-9.3897	14.8814	0.70537	0.0:0.0:0.0:1.0	.	267;263	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	C	263;263;267;267;263;242	ENSP00000361645:Y263C;ENSP00000361640:Y263C;ENSP00000361634:Y267C;ENSP00000402566:Y263C;ENSP00000388282:Y242C	ENSP00000361634:Y267C	Y	-	2	0	SH3GLB2	130811922	1.000000	0.71417	0.955000	0.39395	0.933000	0.57130	6.105000	0.71505	2.166000	0.68216	0.528000	0.53228	TAC		0.622	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054535.2			9	13	9	13	---	---	---	---
CUL2	8453	broad.mit.edu	37	10	35351967	35351967	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr10:35351967G>A	ENST00000374748.1	-	4	456	c.143C>T	c.(142-144)gCc>gTc	p.A48V	CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000478044.1_5'Flank|CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S|CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V			Q13617	CUL2_HUMAN	cullin 2	48					cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)	p.A48V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTCAGGATAGGCCACACATAA	0.313																																						ENST00000374748.1																			1	Substitution - Missense(1)	p.A48V(1)	prostate(1)	breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						c.(142-144)gCc>gTc		cullin 2							70.0	70.0	70.0					10																	35351967		2203	4300	6503	SO:0001583	missense	8453				cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr10:35351967G>A	U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.143C>T	10.37:g.35351967G>A	ENSP00000363880:p.Ala48Val		Somatic				CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V|CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S	p.A48V			WXS	Illumina GAIIx	Phase_I	Q13617	CUL2_HUMAN			4	456	-			48					B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Missense_Mutation	SNP	ENST00000374748.1	37	c.143C>T	CCDS7179.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.5|29.5	5.012338|5.012338	0.93346|0.93346	.|.	.|.	ENSG00000108094|ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374742;ENST00000537177;ENST00000421317|ENST00000374754	T;T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53;1.53|.	5.64|5.64	4.73|4.73	0.59995|0.59995	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75258|0.75258	0.3825|0.3825	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.85130|.	0.997;0.995;0.997|.	T|T	0.78560|0.78560	-0.2157|-0.2157	10|6	0.87932|0.66056	D|D	0|0.02	-8.0568|-8.0568	16.6175|16.6175	0.84920|0.84920	0.0:0.1302:0.8698:0.0|0.0:0.1302:0.8698:0.0	.|.	48;67;48|.	Q5T2B5;G3V1S2;Q13617|.	.;.;CUL2_HUMAN|.	V|S	48;48;48;48;48;67;48|6	ENSP00000363883:A48V;ENSP00000363880:A48V;ENSP00000363878:A48V;ENSP00000363881:A48V;ENSP00000363874:A48V;ENSP00000444856:A67V;ENSP00000414095:A48V|.	ENSP00000363874:A48V|ENSP00000363886:P6S	A|P	-|-	2|1	0|0	CUL2|CUL2	35391973|35391973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.756000|9.756000	0.98918|0.98918	1.378000|1.378000	0.46305|0.46305	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.313	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047538.1	NM_003591		11	118	11	118	---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64572284	64572284	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:64572284C>T	ENST00000337652.1	-	10	1873	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q|MAP4K2_ENST00000294066.2_5'Flank|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q|MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MAP4K2_ENST00000377350.3_5'Flank|MAP4K2_ENST00000468062.1_5'Flank|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	457					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R452Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CACCTTCTGCCGCACCTGGGC	0.726			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	ENST00000337652.1			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	"""D, Mis, N, F, S"""	multiple endocrine neoplasia type 1 gene			E		"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""	"""parathyroid tumors, Pancreatic neuroendocrine tumors"""		1	Substitution - Missense(1)	p.R452Q(1)	prostate(1)	NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						c.(1369-1371)cGg>cAg		multiple endocrine neoplasia I							43.0	49.0	47.0					11																	64572284		2040	4052	6092	SO:0001583	missense	4221	Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64572284C>T	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.1370G>A	11.37:g.64572284C>T	ENSP00000337088:p.Arg457Gln		Somatic				MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q	p.R457Q	NM_130803.2	NP_570715	WXS	Illumina GAIIx	Phase_I	O00255	MEN1_HUMAN			10	1873	-			457					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.1370G>A	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421058	0.96111	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313	D;D;D;D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	D	0.99539	0.9835	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.97110	0.999;0.979;1.0	D	0.97818	1.0255	10	0.87932	D	0	-28.0058	13.2231	0.59899	0.0:1.0:0.0:0.0	.	452;417;457	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	Q	397;417;452;452;452;457;457;457;457;457	ENSP00000366533:R397Q;ENSP00000366538:R417Q;ENSP00000366543:R452Q;ENSP00000308975:R452Q;ENSP00000323747:R452Q;ENSP00000337088:R457Q;ENSP00000377901:R457Q;ENSP00000377899:R457Q;ENSP00000396940:R457Q;ENSP00000366530:R457Q	ENSP00000308975:R452Q	R	-	2	0	MEN1	64328860	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.457000	0.60088	2.257000	0.74773	0.456000	0.33151	CGG		0.726	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			21	119	21	119	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38060572	38060572	+	Nonstop_Mutation	SNP	A	A	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060572A>C	ENST00000250448.2	-	2	1478	c.1417T>G	c.(1417-1419)Tag>Gag	p.*473E	FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	0					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.*473E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCCGGGAGCTAGGAAGTGTTT	0.562																																						ENST00000250448.2																			1	Nonstop extension(1)	p.*473E(1)	prostate(1)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1417-1419)Tag>Gag		forkhead box A1							36.0	42.0	40.0					14																	38060572		2198	4292	6490	SO:0001578	stop_lost	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060572A>C	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1417T>G	14.37:g.38060572A>C	ENSP00000250448:p.*473Glnext*34		Somatic				FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E|FOXA1_ENST00000545425.2_5'UTR	p.*473E	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1478	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		0					B2R9H6|B7ZAP5|Q9H2A0	Nonstop_Mutation	SNP	ENST00000250448.2	37	c.1417T>G	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088750	0.36855	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2439	0.54560	1.0:0.0:0.0:0.0	.	.	.	.	E	473;440	.	.	X	-	1	0	FOXA1	37130323	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.936000	0.92931	1.727000	0.51537	0.329000	0.21502	TAG		0.562	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	88	4	88	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21426327	21426327	+	Silent	SNP	C	C	T			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr18:21426327C>T	ENST00000313654.9	+	31	4027	c.3786C>T	c.(3784-3786)ggC>ggT	p.G1262G	LAMA3_ENST00000399516.3_Silent_p.G1262G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1262	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.G1262G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACCACAAGGGCGCCCTGCCTT	0.632																																						ENST00000313654.9																			1	Substitution - coding silent(1)	p.G1262G(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(3784-3786)ggC>ggT		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						77.0	80.0	79.0					18																	21426327		1927	4125	6052	SO:0001819	synonymous_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21426327C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.3786C>T	18.37:g.21426327C>T			Somatic				LAMA3_ENST00000399516.3_Silent_p.G1262G	p.G1262G	NM_198129.1	NP_937762.1	WXS	Illumina GAIIx	Phase_I	Q16787	LAMA3_HUMAN			31	4027	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1262			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	c.3786C>T	CCDS42419.1																																																																																				0.632	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		7	189	7	189	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38572930	38572930	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr19:38572930T>C	ENST00000222345.6	+	3	1234	c.725T>C	c.(724-726)cTc>cCc	p.L242P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	242					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.L242P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCGAGCTCCTCCGGGCAGAT	0.701																																						ENST00000222345.6																			1	Substitution - Missense(1)	p.L242P(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59						c.(724-726)cTc>cCc		signal-induced proliferation-associated 1 like 3							22.0	23.0	23.0					19																	38572930		2051	4047	6098	SO:0001583	missense	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38572930T>C	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.725T>C	19.37:g.38572930T>C	ENSP00000222345:p.Leu242Pro		Somatic					p.L242P	NM_015073.1	NP_055888.1	WXS	Illumina GAIIx	Phase_I	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	1234	+			242					Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	c.725T>C	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	T	15.22	2.770164	0.49680	.	.	ENSG00000105738	ENST00000222345	T	0.80393	-1.37	5.22	5.22	0.72569	.	0.393945	0.23387	N	0.048723	D	0.84660	0.5521	L	0.52011	1.625	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.83107	-0.0125	10	0.36615	T	0.2	-17.3271	8.7554	0.34643	0.0:0.0867:0.0:0.9133	.	242	O60292	SI1L3_HUMAN	P	242	ENSP00000222345:L242P	ENSP00000222345:L242P	L	+	2	0	SIPA1L3	43264770	0.969000	0.33509	0.213000	0.23690	0.814000	0.46013	2.541000	0.45735	1.983000	0.57843	0.460000	0.39030	CTC		0.701	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		3	58	3	58	---	---	---	---
CEP250	11190	broad.mit.edu	37	20	34091637	34091637	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr20:34091637C>G	ENST00000397527.1	+	30	6160	c.5440C>G	c.(5440-5442)Cag>Gag	p.Q1814E	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1814	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q1814E(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCCCTAGCCCAGAGGGACCA	0.607																																						ENST00000397527.1																			1	Substitution - Missense(1)	p.Q1814E(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(5440-5442)Cag>Gag		centrosomal protein 250kDa							50.0	54.0	52.0					20																	34091637		2203	4300	6503	SO:0001583	missense	11190				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34091637C>G	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.5440C>G	20.37:g.34091637C>G	ENSP00000380661:p.Gln1814Glu		Somatic				CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E	p.Q1814E	NM_007186.3	NP_009117.2	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		30	6160	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1814			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.5440C>G	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	0.098	-1.155961	0.01686	.	.	ENSG00000126001	ENST00000397527;ENST00000342580;ENST00000422671	T;T;T	0.36878	3.18;3.2;1.23	4.94	4.94	0.65067	.	0.374463	0.23270	N	0.050021	T	0.34019	0.0883	M	0.68317	2.08	0.31577	N	0.655555	B	0.14012	0.009	B	0.14023	0.01	T	0.37663	-0.9696	10	0.07030	T	0.85	.	13.9932	0.64380	0.0:0.8043:0.1956:0.0	.	1814	Q9BV73	CP250_HUMAN	E	1814;1758;302	ENSP00000380661:Q1814E;ENSP00000341541:Q1758E;ENSP00000395992:Q302E	ENSP00000341541:Q1758E	Q	+	1	0	CEP250	33555051	0.051000	0.20477	0.513000	0.27749	0.054000	0.15201	1.588000	0.36633	2.573000	0.86826	0.655000	0.94253	CAG		0.607	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		5	100	5	100	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3242966	3242966	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrX:3242966C>A	ENST00000217939.6	-	5	914	c.760G>T	c.(760-762)Gca>Tca	p.A254S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	254	LRRCT.					extracellular vesicular exosome (GO:0070062)		p.A254S(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGCACATTGCACACAACTGA	0.408																																						ENST00000217939.6																			3	Substitution - Missense(3)	p.A254S(3)	prostate(3)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(760-762)Gca>Tca		matrix-remodelling associated 5							55.0	49.0	51.0					X																	3242966		2203	4297	6500	SO:0001583	missense	25878					extracellular region		g.chrX:3242966C>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.760G>T	X.37:g.3242966C>A	ENSP00000217939:p.Ala254Ser		Somatic					p.A254S	NM_015419.3	NP_056234.2	WXS	Illumina GAIIx	Phase_I	Q9NR99	MXRA5_HUMAN			5	914	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	254			LRRCT.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.760G>T	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.692228	0.00731	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62364	0.03	3.08	-1.34	0.09143	Cysteine-rich flanking region, C-terminal (1);	0.466719	0.15621	N	0.252894	T	0.38639	0.1048	N	0.21508	0.67	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.18366	-1.0339	10	0.16420	T	0.52	.	6.654	0.22977	0.296:0.309:0.3951:0.0	.	254	Q9NR99	MXRA5_HUMAN	S	254	ENSP00000217939:A254S	ENSP00000217939:A254S	A	-	1	0	MXRA5	3252966	0.215000	0.23574	0.000000	0.03702	0.006000	0.05464	0.359000	0.20233	-0.183000	0.10585	0.425000	0.28330	GCA		0.408	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	46	9	46	---	---	---	---
MT-ND2	4536	broad.mit.edu	37	M	2205	2205	+	5'Flank	SNP	T	T	C			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrM:2205T>C	ENST00000361453.3	+	0	0				MT-TI_ENST00000387365.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-ND1_ENST00000361390.2_5'Flank			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TTAAGAAAGCGTTCAAGCTCA	0.388																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:2205T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2205T>C	Exception_encountered		Somatic						NR_039705.1		WXS	Illumina GAIIx	Phase_I					0	535	+								Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.388	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024027		6	2	6	2	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155448689	155448689	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:155448689delA	ENST00000368346.3	-	3	4611	c.3972delT	c.(3970-3972)tttfs	p.F1324fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1324					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGAAACTATTAAAGTTGATTC	0.408																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(3970-3972)tttfs		ash1 (absent, small, or homeotic)-like (Drosophila)							96.0	98.0	98.0					1																	155448689		2203	4300	6503	SO:0001589	frameshift_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155448689delA	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3972delT	1.37:g.155448689delA	ENSP00000357330:p.Phe1324fs		Somatic				ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs	p.F1324fs			WXS	Illumina GAIIx	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	4611	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1324					Q59GP1|Q5T714|Q5T715|Q9P2C7	Frame_Shift_Del	DEL	ENST00000368346.3	37	c.3972delT																																																																																					0.408	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	268	7	268	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38060721	38060721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060721delG	ENST00000250448.2	-	2	1329	c.1268delC	c.(1267-1269)gcafs	p.A423fs	FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	423					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTATTGCAGTGCCTGTTCGTA	0.612																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(1267-1269)gcafs		forkhead box A1							135.0	105.0	115.0					14																	38060721		2203	4300	6503	SO:0001589	frameshift_variant	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38060721delG	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.1268delC	14.37:g.38060721delG	ENSP00000250448:p.Ala423fs		Somatic				FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs|FOXA1_ENST00000545425.2_5'UTR	p.A423fs	NM_004496.3	NP_004487.2	WXS	Illumina GAIIx	Phase_I	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	1329	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		423					B2R9H6|B7ZAP5|Q9H2A0	Frame_Shift_Del	DEL	ENST00000250448.2	37	c.1268delC	CCDS9665.1																																																																																				0.612	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			12	66	12	66	---	---	---	---
