#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
NFAT5	10725	broad.mit.edu	37	16	69729160	69729160	+	Silent	SNP	A	A	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr16:69729160A>G	ENST00000354436.2	+	13	4800	c.4482A>G	c.(4480-4482)caA>caG	p.Q1494Q	NFAT5_ENST00000393742.2_Silent_p.Q1418Q|NFAT5_ENST00000432919.1_Silent_p.Q1512Q|NFAT5_ENST00000349945.1_Silent_p.Q1418Q|NFAT5_ENST00000566899.1_Silent_p.Q1418Q|NFAT5_ENST00000567239.1_Silent_p.Q1511Q	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1494					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTTCTCAGCAAATGCCAGAGA	0.463																																						uc002exl.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(4534-4536)caA>caG		Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.							124.0	113.0	117.0					16																	69729160		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69729160A>G	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4482A>G	16.37:g.69729160A>G						NFAT5_uc002exj.2_Silent_p.Q1418Q|NFAT5_uc002exk.2_Silent_p.Q1418Q|NFAT5_uc002exn.2_Silent_p.Q1511Q|NFAT5_uc002exm.2_Silent_p.Q1494Q|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Silent_p.Q1418Q	p.Q1512Q	NM_138713	NP_775322	O94916	NFAT5_HUMAN			13	4872	+			1494					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.4536A>G	CCDS10881.1																																																																																				0.463	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		14	72	0	0	0	1	0	14	72				
TMEM143	55260	broad.mit.edu	37	19	48863423	48863423	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr19:48863423G>C	ENST00000293261.3	-	3	591	c.275C>G	c.(274-276)tCg>tGg	p.S92W	TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000436660.2_Missense_Mutation_p.S92W|TMEM143_ENST00000598012.1_5'Flank|TMEM143_ENST00000377431.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	92					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TGCCGGACTCGAGTGGAATTC	0.562																																						uc002pix.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14						c.(274-276)tCg>tGg		Homo sapiens transmembrane protein 143 (TMEM143), mRNA.							69.0	67.0	67.0					19																	48863423		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48863423G>C	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.275C>G	19.37:g.48863423G>C	ENSP00000293261:p.Ser92Trp					TMEM143_uc002piw.1_Non-coding_Transcript|TMEM143_uc010xzn.1_Missense_Mutation_p.S92W|TMEM143_uc010elw.1_Intron|TMEM143_uc010xzo.1_Intron|TMEM143_uc002piy.1_Intron|TMEM143_uc010xzp.1_Missense_Mutation_p.S92W|TMEM143_uc010xzq.1_Intron	p.S92W	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	2	284	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	92					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.275C>G	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997460	0.35226	.	.	ENSG00000161558	ENST00000293261;ENST00000436660	T	0.46451	0.87	4.87	3.77	0.43336	.	0.213192	0.32287	N	0.006310	T	0.45357	0.1338	N	0.19112	0.55	0.33610	D	0.603466	D;B	0.76494	0.999;0.323	D;B	0.68039	0.955;0.051	T	0.57997	-0.7714	10	0.62326	D	0.03	-25.4429	11.8196	0.52230	0.0:0.1775:0.8225:0.0	.	92;92	B4DPF8;Q96AN5	.;TM143_HUMAN	W	92	ENSP00000293261:S92W	ENSP00000293261:S92W	S	-	2	0	TMEM143	53555235	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	3.208000	0.51114	2.445000	0.82738	0.650000	0.86243	TCG		0.562	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		3	57	0	0	0	1	0	3	57				
LAMP5	24141	broad.mit.edu	37	20	9498782	9498782	+	Missense_Mutation	SNP	G	G	T	rs527594563		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr20:9498782G>T	ENST00000246070.2	+	5	1063	c.571G>T	c.(571-573)Gcc>Tcc	p.A191S	LAMP5_ENST00000427562.2_Missense_Mutation_p.A147S	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	191						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											CATTTCACTGGCCTCTAGTGA	0.507																																						uc002wni.2																			0											c.(571-573)Gcc>Tcc		Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.							130.0	103.0	112.0					20																	9498782		2203	4300	6503	SO:0001583	missense	24141					integral to membrane		g.chr20:9498782G>T	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.571G>T	20.37:g.9498782G>T	ENSP00000246070:p.Ala191Ser					LAMP5_uc010zrc.2_Missense_Mutation_p.A147S	p.A191S	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN			4	1066	+			191					B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	c.571G>T	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514596	0.27123	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.25579	1.79;1.79	5.84	2.48	0.30137	.	0.432644	0.27946	N	0.017216	T	0.12135	0.0295	N	0.14661	0.345	0.26049	N	0.981504	B;B	0.15141	0.01;0.012	B;B	0.21917	0.022;0.037	T	0.23084	-1.0198	9	.	.	.	-5.9987	4.9837	0.14180	0.2737:0.3029:0.4234:0.0	.	147;191	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	S	191;147	ENSP00000246070:A191S;ENSP00000406360:A147S	.	A	+	1	0	C20orf103	9446782	0.966000	0.33281	0.962000	0.40283	0.712000	0.41017	1.784000	0.38674	0.801000	0.34066	0.655000	0.94253	GCC		0.507	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261		24	44	0	0	0	1	0	24	44				
EIF2AK4	440275	broad.mit.edu	37	15	40308702	40308702	+	Splice_Site	SNP	G	G	A			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr15:40308702G>A	ENST00000263791.5	+	28	3802		c.e28-1		EIF2AK4_ENST00000382727.2_Splice_Site	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4						cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TTGCTTTCCAGCTGTGTCGAC	0.473																																						uc001zkm.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.e28-1		Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.							66.0	68.0	68.0					15																	40308702		2069	4220	6289	SO:0001630	splice_region_variant	440275				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40308702G>A	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.3760-1G>A	15.37:g.40308702G>A						EIF2AK4_uc010bbj.1_Splice_Site_p.L955_splice|EIF2AK4_uc001zkn.1_Splice_Site_p.L354_splice|EIF2AK4_uc001zko.1_Intron|EIF2AK4_uc010bbk.1_Splice_Site	p.L1254_splice	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	28	3810	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	1254			Histidyl-tRNA synthetase-like.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Splice_Site	SNP	ENST00000263791.5	37	c.3760_splice	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251288	0.80135	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8977	0.58109	0.0747:0.0:0.9253:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF2AK4	38095994	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.593000	0.82686	2.704000	0.92352	0.643000	0.83706	.		0.473	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		Intron	3	49	0	0	0	1	0	3	49				
HRAS	3265	broad.mit.edu	37	11	533875	533875	+	Missense_Mutation	SNP	G	G	T	rs28933406		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr11:533875G>T	ENST00000451590.1	-	3	368	c.181C>A	c.(181-183)Cag>Aag	p.Q61K	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61K	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61K(61)|p.Q61R(1)|p.Q61E(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACTCCTCCTGGCCGGCGGTA	0.597		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		63	Substitution - Missense(63)	p.Q61R(130)|p.Q61K(120)|p.Q61L(113)|p.Q61H(20)|p.Q61P(3)|p.Q61E(2)|p.Q61?(1)|p.Q61Q(1)	thyroid(23)|skin(18)|urinary_tract(8)|upper_aerodigestive_tract(4)|soft_tissue(4)|testis(2)|lung(2)|cervix(1)|kidney(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)Cag>Aag		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117.0	102.0	107.0					11																	533875		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533875G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.181C>A	11.37:g.533875G>T	ENSP00000407586:p.Gln61Lys	HNSCC(11;0.0054)				HRAS_uc010qvw.2_Missense_Mutation_p.Q61K|HRAS_uc010qvx.2_Missense_Mutation_p.Q61K|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61K	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.181C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.855718	0.51376	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	H	0.96604	3.85	0.80722	D	1	B;B	0.19073	0.033;0.012	B;B	0.19391	0.015;0.025	D	0.89618	0.3846	10	0.62326	D	0.03	.	14.8426	0.70237	0.0:0.0:1.0:0.0	rs28933406	61;61	P01112-2;P01112	.;RASH_HUMAN	K	61	ENSP00000380722:Q61K;ENSP00000380723:Q61K;ENSP00000407586:Q61K;ENSP00000388246:Q61K;ENSP00000309845:Q61K	ENSP00000309845:Q61K	Q	-	1	0	HRAS	523875	1.000000	0.71417	0.987000	0.45799	0.459000	0.32528	9.476000	0.97823	2.045000	0.60652	0.561000	0.74099	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		47	81	0	0	0	1	0	47	81				
SCUBE1	80274	broad.mit.edu	37	22	43619190	43619190	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr22:43619190A>G	ENST00000360835.4	-	11	1366	c.1240T>C	c.(1240-1242)Tcc>Ccc	p.S414P		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	414					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCCCGGGGGGAGGTCTTGGCG	0.647																																						uc003bdt.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1240-1242)Tcc>Ccc		Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.							80.0	88.0	85.0					22																	43619190		2203	4300	6503	SO:0001583	missense	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43619190A>G		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1240T>C	22.37:g.43619190A>G	ENSP00000354080:p.Ser414Pro						p.S414P	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN			10	1367	-		all_neural(38;0.0414)|Ovarian(80;0.07)	414					Q5R336	Missense_Mutation	SNP	ENST00000360835.4	37	c.1240T>C	CCDS14048.1	.	.	.	.	.	.	.	.	.	.	A	5.546	0.285600	0.10513	.	.	ENSG00000159307	ENST00000360835	D	0.85411	-1.98	5.14	1.49	0.22878	.	0.811742	0.11434	N	0.564530	T	0.67069	0.2854	N	0.12182	0.205	0.33766	D	0.6225	B	0.02656	0.0	B	0.06405	0.002	T	0.59747	-0.7396	10	0.23302	T	0.38	.	3.154	0.06498	0.36:0.4321:0.0884:0.1195	.	414	Q8IWY4	SCUB1_HUMAN	P	414	ENSP00000354080:S414P	ENSP00000354080:S414P	S	-	1	0	SCUBE1	41949134	0.747000	0.28283	0.001000	0.08648	0.016000	0.09150	0.495000	0.22483	0.369000	0.24510	0.459000	0.35465	TCC		0.647	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		4	108	0	0	0	1	0	4	108				
IGDCC4	57722	broad.mit.edu	37	15	65677333	65677333	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr15:65677333G>A	ENST00000352385.2	-	19	3510	c.3301C>T	c.(3301-3303)Cag>Tag	p.Q1101*	IGDCC4_ENST00000558048.1_5'UTR	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AACAGCGTCTGCCCAGTTCCA	0.662											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002aou.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3301-3303)Cag>Tag		Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.							52.0	63.0	59.0					15																	65677333		2196	4298	6494	SO:0001587	stop_gained	57722					integral to membrane|plasma membrane		g.chr15:65677333G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3301C>T	15.37:g.65677333G>A	ENSP00000319623:p.Gln1101*		OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	IGDCC4_uc002aot.1_Nonsense_Mutation_p.Q689*	p.Q1101*	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			18	3511	-			1101					Q9HCE4	Nonsense_Mutation	SNP	ENST00000352385.2	37	c.3301C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	43	10.402654	0.99398	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	.	.	.	5.23	5.23	0.72850	.	0.000000	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-17.8646	15.9369	0.79717	0.0:0.0:1.0:0.0	.	.	.	.	X	1101;830	.	ENSP00000319623:Q1101X	Q	-	1	0	IGDCC4	63464386	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.867000	0.56047	2.444000	0.82710	0.561000	0.74099	CAG		0.662	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		5	129	0	0	0	1	0	5	129				
ANTXR2	118429	broad.mit.edu	37	4	80992749	80992749	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr4:80992749T>C	ENST00000307333.7	-	2	214	c.212A>G	c.(211-213)gAg>gGg	p.E71G	ANTXR2_ENST00000346652.6_Missense_Mutation_p.E71G|ANTXR2_ENST00000295465.4_Missense_Mutation_p.E71G|ANTXR2_ENST00000404191.1_5'UTR|ANTXR2_ENST00000403729.2_Missense_Mutation_p.E71G	NM_001145794.1	NP_001139266.1	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	71	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CACAAATCTCTCCGCAAGTTG	0.368									Juvenile Hyaline Fibromatosis																													uc003hlz.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						c.(211-213)gAg>gGg		Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA.							89.0	88.0	89.0					4																	80992749		1832	4092	5924	SO:0001583	missense	118429	Juvenile Hyaline Fibromatosis	Familial Cancer Database	incl. Infantile Systemic Hyalinosis		endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity	g.chr4:80992749T>C	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000307333.7:c.212A>G	4.37:g.80992749T>C	ENSP00000306185:p.Glu71Gly					ANTXR2_uc003hly.4_Missense_Mutation_p.E71G|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.E71G	p.E71G	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN			1	975	-			71			VWFA.		Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	Missense_Mutation	SNP	ENST00000307333.7	37	c.212A>G	CCDS47086.1	.	.	.	.	.	.	.	.	.	.	t	9.987	1.229729	0.22542	.	.	ENSG00000163297	ENST00000403729;ENST00000346652;ENST00000307333;ENST00000295465	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.61	4.4	0.53042	von Willebrand factor, type A (3);	0.266366	0.41823	D	0.000805	T	0.73385	0.3580	L	0.28192	0.835	0.43439	D	0.995618	B;B;B	0.30937	0.301;0.017;0.008	B;B;B	0.26864	0.074;0.013;0.005	T	0.66634	-0.5874	10	0.25751	T	0.34	-6.9592	9.7388	0.40404	0.1546:0.0:0.0:0.8454	.	71;71;71	P58335-2;P58335;P58335-4	.;ANTR2_HUMAN;.	G	71	ENSP00000385575:E71G;ENSP00000314883:E71G;ENSP00000306185:E71G;ENSP00000295465:E71G	ENSP00000295465:E71G	E	-	2	0	ANTXR2	81211773	0.977000	0.34250	0.942000	0.38095	0.389000	0.30415	3.952000	0.56691	0.921000	0.36994	0.460000	0.39030	GAG		0.368	ANTXR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324663.1	NM_058172		26	26	0	0	0	1	0	26	26				
CCDC150	284992	broad.mit.edu	37	2	197521549	197521549	+	Silent	SNP	T	T	A	rs200786144		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr2:197521549T>A	ENST00000389175.4	+	3	504	c.369T>A	c.(367-369)acT>acA	p.T123T	CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Silent_p.T20T|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	123										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGCTGCAAACTGAAAAGGATT	0.388																																						uc002utp.1																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(367-369)acT>acA		Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.							88.0	87.0	87.0					2																	197521549		1872	4106	5978	SO:0001819	synonymous_variant	284992							g.chr2:197521549T>A		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.369T>A	2.37:g.197521549T>A						CCDC150_uc002uto.1_Silent_p.T123T|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.T123T	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			2	504	+			123					Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.369T>A	CCDS46478.1																																																																																				0.388	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		4	46	0	0	0	1	0	4	46				
MYRIP	25924	broad.mit.edu	37	3	40223732	40223732	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr3:40223732A>G	ENST00000302541.6	+	9	1237	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	MYRIP_ENST00000444716.1_Missense_Mutation_p.I299V|MYRIP_ENST00000539167.1_Missense_Mutation_p.I112V|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.I210V|MYRIP_ENST00000425621.1_Missense_Mutation_p.I299V	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	299	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGCCTTCTCAATCACTGGAGA	0.592																																						uc003cka.3																			0		p.I299I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(895-897)Atc>Gtc		Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.							87.0	93.0	91.0					3																	40223732		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40223732A>G	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.895A>G	3.37:g.40223732A>G	ENSP00000301972:p.Ile299Val					MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.I299V|MYRIP_uc010hhw.3_Missense_Mutation_p.I210V|MYRIP_uc011ayz.2_Missense_Mutation_p.I112V|FLJ33065_uc003ckb.3_Intron	p.I299V	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	8	1030	+			299			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.895A>G	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	A	14.44	2.534980	0.45073	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.27	0.92	0.19397	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.458062	0.21428	N	0.074713	T	0.07369	0.0186	N	0.08118	0	0.18873	N	0.999981	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.08055	0.003;0.0;0.001	T	0.30327	-0.9982	9	.	.	.	.	2.1049	0.03688	0.2362:0.3865:0.2648:0.1125	.	210;299;299	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	V	299;299;299;210;112	ENSP00000398665:I299V;ENSP00000301972:I299V;ENSP00000389323:I299V;ENSP00000379519:I210V;ENSP00000438297:I112V	.	I	+	1	0	MYRIP	40198736	0.869000	0.29996	0.000000	0.03702	0.550000	0.35303	1.725000	0.38074	-0.143000	0.11334	-0.274000	0.10170	ATC		0.592	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		4	128	0	0	0	1	0	4	128				
ZNF322	79692	broad.mit.edu	37	6	26638435	26638435	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr6:26638435C>G	ENST00000415922.2	-	4	992	c.347G>C	c.(346-348)gGa>gCa	p.G116A	ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000471278.1_Missense_Mutation_p.G116A	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCTCTGATGTCCTGAAAGCGC	0.413																																						uc021ynx.1																			0											c.(346-348)gGa>gCa		Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 1, mRNA.							162.0	162.0	162.0					6																	26638435		2201	4298	6499	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26638435C>G	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.347G>C	6.37:g.26638435C>G	ENSP00000418897:p.Gly116Ala					ZNF322_uc003nij.3_5'Flank|ZNF322_uc003nil.4_Missense_Mutation_p.G116A|ZNF322_uc021yny.1_Missense_Mutation_p.G116A|ZNF322_uc021ynz.1_Missense_Mutation_p.G116A|ZNF322_uc021yoa.1_Missense_Mutation_p.G116A	p.G116A	NM_001242797	NP_001229726	Q6U7Q0	Z322A_HUMAN			4	1068	-			116					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.347G>C	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	c	6.323	0.427748	0.11987	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.16597	2.33;2.33	5.03	4.16	0.48862	.	0.000000	0.38548	N	0.001649	T	0.01421	0.0046	N	0.00966	-1.09	0.28073	N	0.932495	P	0.38978	0.652	B	0.37780	0.258	T	0.32079	-0.9920	10	0.08837	T	0.75	-14.6223	6.9099	0.24329	0.0:0.8188:0.0:0.1812	.	116	Q6U7Q0	ZN322_HUMAN	A	116	ENSP00000418897:G116A;ENSP00000419728:G116A	ENSP00000418897:G116A	G	-	2	0	ZNF322	26746414	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-3.382000	0.00490	2.776000	0.95493	0.655000	0.94253	GGA		0.413	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		3	126	0	0	0	1	0	3	126				
COL4A4	1286	broad.mit.edu	37	2	227979396	227979396	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr2:227979396T>C	ENST00000396625.3	-	8	713	c.506A>G	c.(505-507)aAg>aGg	p.K169R	COL4A4_ENST00000329662.7_Missense_Mutation_p.K169R	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	169	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTTCTCCCTTTTCCCCAGG	0.299																																						uc021vxr.1																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(505-507)aAg>aGg		Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.							111.0	100.0	103.0					2																	227979396		1806	4074	5880	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227979396T>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.506A>G	2.37:g.227979396T>C	ENSP00000379866:p.Lys169Arg					COL4A4_uc021vxs.1_Missense_Mutation_p.K169R	p.K169R	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	6	607	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	169			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.506A>G	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095251	0.36952	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94232	-3.38;-3.22	5.51	-1.39	0.08997	.	.	.	.	.	D	0.89276	0.6669	M	0.67700	2.07	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.75216	-0.3396	9	0.27082	T	0.32	.	5.1502	0.15005	0.124:0.294:0.0:0.582	.	169	P53420	CO4A4_HUMAN	R	169	ENSP00000379866:K169R;ENSP00000328553:K169R	ENSP00000328553:K169R	K	-	2	0	COL4A4	227687640	0.131000	0.22433	0.000000	0.03702	0.987000	0.75469	0.259000	0.18405	-0.386000	0.07821	0.533000	0.62120	AAG		0.299	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		3	55	0	0	0	1	0	3	55				
NOTCH2	4853	broad.mit.edu	37	1	120461954	120461954	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr1:120461954T>G	ENST00000256646.2	-	31	5981	c.5762A>C	c.(5761-5763)gAt>gCt	p.D1921A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1921					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCTTGGGCATCAGCTGCCAC	0.468			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(5761-5763)gAt>gCt		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							59.0	56.0	57.0					1																	120461954		2203	4300	6503	SO:0001583	missense	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120461954T>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5762A>C	1.37:g.120461954T>G	ENSP00000256646:p.Asp1921Ala						p.D1921A	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	30	6059	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1921					Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5762A>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.467431	0.84533	.	.	ENSG00000134250	ENST00000256646	T	0.53857	0.6	5.64	5.64	0.86602	Ankyrin repeat-containing domain (4);	0.000000	0.38897	U	0.001523	T	0.51483	0.1677	N	0.25201	0.72	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.61262	-0.7098	10	0.87932	D	0	.	15.0356	0.71744	0.0:0.0:0.0:1.0	.	1921	Q04721	NOTC2_HUMAN	A	1921	ENSP00000256646:D1921A	ENSP00000256646:D1921A	D	-	2	0	NOTCH2	120263477	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.160000	0.67779	0.533000	0.62120	GAT		0.468	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		3	83	0	0	0	1	0	3	83				
XPNPEP1	7511	broad.mit.edu	37	10	111642324	111642324	+	Missense_Mutation	SNP	C	C	T	rs372041068		TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr10:111642324C>T	ENST00000502935.1	-	10	1026	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E303K|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.E260K|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E189K					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		ATCCTGTATTCGGCTTCCAGA	0.572																																						uc001kyp.2																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(907-909)Gaa>Aaa		Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	133.0	120.0	125.0		907,907	5.8	0.2	10		125	0,8600		0,0,4300	no	missense,missense	XPNPEP1	NM_001167604.1,NM_020383.3	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	303/643,303/667	111642324	1,13005	2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111642324C>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.907G>A	10.37:g.111642324C>T	ENSP00000421566:p.Glu303Lys					XPNPEP1_uc009xxt.2_Missense_Mutation_p.E303K|XPNPEP1_uc001kyq.2_Missense_Mutation_p.E189K|XPNPEP1_uc010qrb.2_Missense_Mutation_p.E303K|XPNPEP1_uc010qra.1_Missense_Mutation_p.E27K	p.E303K	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	9	1027	-		Breast(234;0.174)	260						Missense_Mutation	SNP	ENST00000502935.1	37	c.907G>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373941	0.61735	2.27E-4	0.0	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680;ENST00000403138;ENST00000423625	.	.	.	5.82	5.82	0.92795	.	0.095649	0.64402	D	0.000001	T	0.42471	0.1204	L	0.31120	0.905	0.58432	D	0.999999	P;B;B	0.35348	0.496;0.077;0.011	B;B;B	0.13407	0.009;0.005;0.001	T	0.32534	-0.9903	9	0.23891	T	0.37	-20.7264	18.2859	0.90114	0.0:1.0:0.0:0.0	.	303;303;260	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	K	303;189;303;260;260;228	.	ENSP00000324011:E303K	E	-	1	0	XPNPEP1	111632314	1.000000	0.71417	0.198000	0.23420	0.858000	0.48976	6.985000	0.76193	2.757000	0.94681	0.655000	0.94253	GAA		0.572	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			36	82	0	0	0	1	0	36	82				
TIAM2	26230	broad.mit.edu	37	6	155458519	155458519	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr6:155458519T>A	ENST00000461783.3	+	7	2676	c.1403T>A	c.(1402-1404)aTg>aAg	p.M468K	TIAM2_ENST00000360366.4_Missense_Mutation_p.M468K|TIAM2_ENST00000456144.1_Missense_Mutation_p.M468K|TIAM2_ENST00000529824.2_Missense_Mutation_p.M468K|TIAM2_ENST00000318981.5_Missense_Mutation_p.M468K|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	468					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGTTGGAAATGAGCAGGACC	0.493																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(1402-1404)aTg>aAg		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							106.0	114.0	111.0					6																	155458519		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	g.chr6:155458519T>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1403T>A	6.37:g.155458519T>A	ENSP00000437188:p.Met468Lys					TIAM2_uc003qqe.3_Missense_Mutation_p.M468K|TIAM2_uc010kjj.3_Missense_Mutation_p.M1K	p.M468K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	6	2676	+		Ovarian(120;0.196)	468					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.1403T>A	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.527491	0.44969	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05513	3.54;3.43;3.5;3.54;3.54;3.5	6.08	4.93	0.64822	.	0.181406	0.64402	D	0.000013	T	0.04363	0.0120	M	0.75264	2.295	0.80722	D	1	P;B	0.38767	0.646;0.363	B;B	0.30572	0.117;0.055	T	0.07177	-1.0786	10	0.87932	D	0	.	11.6879	0.51497	0.0:0.0683:0.0:0.9317	.	468;468	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	K	468;714;468;468;468;468;468	ENSP00000437188:M468K;ENSP00000434901:M468K;ENSP00000407746:M468K;ENSP00000327315:M468K;ENSP00000353528:M468K;ENSP00000433348:M468K	ENSP00000327315:M468K	M	+	2	0	TIAM2	155500211	1.000000	0.71417	0.991000	0.47740	0.475000	0.33008	3.717000	0.54911	2.333000	0.79357	0.533000	0.62120	ATG		0.493	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		6	171	0	0	0	1	0	6	171				
DLGAP5	9787	broad.mit.edu	37	14	55637441	55637441	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr14:55637441C>G	ENST00000247191.2	-	11	1582	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	DLGAP5_ENST00000395425.2_Missense_Mutation_p.E456Q	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	456					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATGTCCAATTCAAGTTTCCTG	0.333																																						uc001xbs.3																			0				biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1366-1368)Gaa>Caa		Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.							173.0	145.0	155.0					14																	55637441		2203	4300	6503	SO:0001583	missense	9787				cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding	g.chr14:55637441C>G	D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.1366G>C	14.37:g.55637441C>G	ENSP00000247191:p.Glu456Gln					DLGAP5_uc001xbt.3_Missense_Mutation_p.E456Q	p.E456Q	NM_014750	NP_055565	Q15398	DLGP5_HUMAN			10	1583	-			456					A8MTM6|B4DRM8|Q86T11|Q8NG58	Missense_Mutation	SNP	ENST00000247191.2	37	c.1366G>C	CCDS9723.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.337639	0.41398	.	.	ENSG00000126787	ENST00000395425;ENST00000247191	T;T	0.24538	1.85;1.85	5.4	3.48	0.39840	.	0.270105	0.40554	N	0.001068	T	0.34978	0.0916	M	0.74389	2.26	0.37008	D	0.895616	B;B	0.29162	0.235;0.132	B;B	0.38156	0.266;0.251	T	0.46978	-0.9152	10	0.66056	D	0.02	.	11.3611	0.49644	0.0:0.7733:0.1549:0.0717	.	456;456	A8MTM6;Q15398	.;DLGP5_HUMAN	Q	456	ENSP00000378815:E456Q;ENSP00000247191:E456Q	ENSP00000247191:E456Q	E	-	1	0	DLGAP5	54707194	1.000000	0.71417	0.951000	0.38953	0.507000	0.33981	2.774000	0.47694	1.317000	0.45149	0.561000	0.74099	GAA		0.333	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276908.2	NM_014750		28	40	0	0	0	1	0	28	40				
AKAP11	11215	broad.mit.edu	37	13	42874704	42874704	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A22K-01A-11D-A17V-08	TCGA-EM-A22K-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04cb54da-f53f-4bdd-9f67-42bf9140da17	b31f64cf-a428-415f-8380-0eb6d368cfd2	g.chr13:42874704A>T	ENST00000025301.2	+	8	1997	c.1822A>T	c.(1822-1824)Aaa>Taa	p.K608*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	608					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ATTTTCACTAAAAGAACGTGC	0.383																																						uc001uys.2																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56						c.(1822-1824)Aaa>Taa		Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.							82.0	78.0	79.0					13																	42874704		2203	4300	6503	SO:0001587	stop_gained	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42874704A>T	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.1822A>T	13.37:g.42874704A>T	ENSP00000025301:p.Lys608*						p.K608*	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	7	1997	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	608					O75124|Q9NUK7	Nonsense_Mutation	SNP	ENST00000025301.2	37	c.1822A>T	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	A	39	7.598592	0.98381	.	.	ENSG00000023516	ENST00000025301	.	.	.	6.07	4.88	0.63580	.	0.111062	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.592	0.61966	0.8704:0.1296:0.0:0.0	.	.	.	.	X	608	.	ENSP00000025301:K608X	K	+	1	0	AKAP11	41772704	1.000000	0.71417	0.864000	0.33941	0.969000	0.65631	7.098000	0.76974	1.093000	0.41377	0.477000	0.44152	AAA		0.383	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		5	42	0	0	0	1	0	5	42				
