#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
OVGP1	5016	genome.wustl.edu	37	1	111957639	111957639	+	Missense_Mutation	SNP	G	G	A	rs201456864	byFrequency	TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	G	G	A	A	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr1:111957639G>A	ENST00000369732.3	-	11	1539	c.1484C>T	c.(1483-1485)aCc>aTc	p.T495I		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	495					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)	p.T495I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ACCCACAGGGGTCAGGGCCTT	0.552																																																1	Substitution - Missense(1)	ovary(1)	1											92.0	80.0	84.0					1																	111957639		2203	4300	6503	111759162	SO:0001583	missense	5016			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1484C>T	1.37:g.111957639G>A	ENSP00000358747:p.Thr495Ile		111759162	A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_18;superfamily_(Trans)glycosidases;superfamily_Chitinase insertion domain	p.T495I	ENST00000369732.3	37	c.1484	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	G	8.557	0.876975	0.17395	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.03951	3.75	2.95	-2.33	0.06724	.	.	.	.	.	T	0.01156	0.0038	L	0.42245	1.32	0.09310	N	1	B;B	0.25667	0.012;0.131	B;B	0.26517	0.004;0.07	T	0.47169	-0.9138	9	0.21540	T	0.41	.	4.3231	0.11027	0.1289:0.0:0.2983:0.5728	.	495;559	Q12889;Q59HH5	OVGP1_HUMAN;.	I	495;559;303	ENSP00000358747:T495I	ENSP00000358743:T559I	T	-	2	0	OVGP1	111759162	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.217000	0.10033	-2.112000	0.00353	ACC	-	NULL		0.552	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	protein_coding	OTTHUMT00000032461.1	G	NM_002557		111759162	-1	no_errors	NM_002557	genbank	human	reviewed	54_36p	missense	SNP		A
NRAP	4892	genome.wustl.edu	37	10	115412757	115412757	+	Missense_Mutation	SNP	G	G	T	rs138386465		TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr10:115412757G>T	ENST00000359988.3	-	6	751	c.507C>A	c.(505-507)agC>agA	p.S169R	NRAP_ENST00000360478.3_Missense_Mutation_p.S169R|NRAP_ENST00000369360.3_Missense_Mutation_p.S169R|NRAP_ENST00000369358.4_Missense_Mutation_p.S169R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.S169R(1)|p.S169S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGGCTGGAAAGCTCCCCTTGC	0.473																																																2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|lung(1)	10						G	ARG/SER,ARG/SER	2,4404	4.2+/-10.8	0,2,2201	179.0	155.0	163.0		507,507	-0.8	1.0	10	dbSNP_134	163	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	NRAP	NM_006175.3,NM_198060.2	110,110	0,6,6497	TT,TG,GG		0.0465,0.0454,0.0461	probably-damaging,probably-damaging	169/1696,169/1731	115412757	6,13000	2203	4300	6503	115402747	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.507C>A	10.37:g.115412757G>T	ENSP00000353078:p.Ser169Arg		115402747		Missense_Mutation	SNP	HMMPfam_Nebulin;HMMPfam_LIM;superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.S169R	ENST00000359988.3	37	c.507	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534967	0.45073	4.54E-4	4.65E-4	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.18016	2.43;2.43;2.33;2.24	5.92	-0.802	0.10889	.	0.000000	0.85682	D	0.000000	T	0.30324	0.0761	L	0.55481	1.735	0.40869	D	0.983899	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.87578	0.998;0.984;0.986	T	0.02167	-1.1202	10	0.25751	T	0.34	.	12.2823	0.54771	0.3779:0.0:0.6221:0.0	.	169;169;169	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	R	169	ENSP00000358365:S169R;ENSP00000358367:S169R;ENSP00000353078:S169R;ENSP00000353666:S169R	ENSP00000353078:S169R	S	-	3	2	NRAP	115402747	1.000000	0.71417	0.995000	0.50966	0.837000	0.47467	1.591000	0.36665	-0.050000	0.13356	-0.808000	0.03180	AGC	-	NULL		0.473	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	protein_coding	OTTHUMT00000050425.2	G	NM_006175		115402747	-1	no_errors	NM_198060	genbank	human	validated	54_36p	missense	SNP	1	T
OR5R1	219479	genome.wustl.edu	37	11	56184844	56184844	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	T	T	T	A	T	T	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr11:56184844T>A	ENST00000312253.1	-	1	864	c.865A>T	c.(865-867)Atc>Ttc	p.I289F		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I289F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGACTATAGATTAGGGGGTTT	0.358																																																1	Substitution - Missense(1)	ovary(1)	11											121.0	121.0	121.0					11																	56184844		2201	4296	6497	55941420	SO:0001583	missense	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.865A>T	11.37:g.56184844T>A	ENSP00000308595:p.Ile289Phe		55941420		Missense_Mutation	SNP	-	p.I289F	ENST00000312253.1	37	c.865	CCDS31530.1	11	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261503	0.39995	.	.	ENSG00000174942	ENST00000312253	T	0.57107	0.42	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31847	U	0.006971	T	0.61837	0.2379	L	0.39245	1.2	0.34503	D	0.706214	D	0.89917	1.0	D	0.91635	0.999	T	0.72969	-0.4130	10	0.87932	D	0	-18.6637	9.6065	0.39637	0.0:0.0795:0.0:0.9205	.	289	Q8NH85	OR5R1_HUMAN	F	289	ENSP00000308595:I289F	ENSP00000308595:I289F	I	-	1	0	OR5R1	55941420	1.000000	0.71417	0.854000	0.33618	0.015000	0.08874	3.845000	0.55880	2.040000	0.60383	0.450000	0.29827	ATC	-	NULL		0.358	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	protein_coding	OTTHUMT00000334444.1	T	NM_001004744		55941420	-1	no_errors	NM_001004744	genbank	human	provisional	54_36p	missense	SNP	0.91	A
MS4A10	341116	genome.wustl.edu	37	11	60559755	60559755	+	Silent	SNP	C	C	A			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	A	A	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr11:60559755C>A	ENST00000308287.1	+	4	417	c.321C>A	c.(319-321)atC>atA	p.I107I		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	107						integral component of membrane (GO:0016021)		p.I107I(2)		endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						TTTCAGGGATCTTGGCGATAA	0.458																																																2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	11											189.0	172.0	178.0					11																	60559755		2203	4300	6503	60316331	SO:0001819	synonymous_variant	341116			AK122633	CCDS7992.1	11q12.2	2008-02-05				ENSG00000172689			13368	protein-coding gene	gene with protein product		608403				11486273, 11401424	Standard	NM_206893		Approved	CD20L7, MS4A9	uc001npz.1	Q96PG2		ENST00000308287.1:c.321C>A	11.37:g.60559755C>A			60316331	B2RP45|Q96PG3	Silent	SNP	-	p.I107	ENST00000308287.1	37	c.321	CCDS7992.1	11																																																																																			-	NULL		0.458	MS4A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A10	protein_coding	OTTHUMT00000395619.1	C	NM_206893		60316331	1	no_errors	NM_206893	genbank	human	validated	54_36p	silent	SNP	0.15	A
PRKRIR	5612	genome.wustl.edu	37	11	76061964	76061964	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	A	G	A	A	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr11:76061964A>G	ENST00000260045.3	-	5	2335	c.2230T>C	c.(2230-2232)Tat>Cat	p.Y744H	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	744					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y744H(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TTACTTGTATAGAGTTTAATA	0.323																																																1	Substitution - Missense(1)	ovary(1)	11											16.0	15.0	16.0					11																	76061964		2089	4203	6292	75739612	SO:0001583	missense	5612			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.2230T>C	11.37:g.76061964A>G	ENSP00000260045:p.Tyr744His		75739612	A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	HMMPfam_THAP;HMMPfam_hATC	p.Y744H	ENST00000260045.3	37	c.2230	CCDS8243.1	11	.	.	.	.	.	.	.	.	.	.	A	19.15	3.772600	0.69992	.	.	ENSG00000137492	ENST00000529901;ENST00000260045	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	L	0.29908	0.895	0.58432	D	0.999992	P	0.47106	0.89	B	0.43623	0.425	T	0.26608	-1.0098	9	0.18710	T	0.47	.	16.3639	0.83307	1.0:0.0:0.0:0.0	.	744	O43422	P52K_HUMAN	H	569;744	.	ENSP00000260045:Y744H	Y	-	1	0	PRKRIR	75739612	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	6.726000	0.74758	2.326000	0.78906	0.524000	0.50904	TAT	-	NULL		0.323	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKRIR	protein_coding	OTTHUMT00000383188.1	A	NM_004705		75739612	-1	no_errors	NM_004705	genbank	human	provisional	54_36p	missense	SNP	1	G
GEMIN4	50628	genome.wustl.edu	37	17	649180	649180	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr17:649180C>G	ENST00000319004.5	-	2	2221	c.2103G>C	c.(2101-2103)ttG>ttC	p.L701F	GEMIN4_ENST00000576778.1_Missense_Mutation_p.L690F	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	701					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.L701F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGAGCTGGCACAAGCTGAAGA	0.547																																																1	Substitution - Missense(1)	ovary(1)	17											29.0	31.0	31.0					17																	649180		1951	4146	6097	595930	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.2103G>C	17.37:g.649180C>G	ENSP00000321706:p.Leu701Phe		595930	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	-	p.L701F	ENST00000319004.5	37	c.2103	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148430	0.37923	.	.	ENSG00000179409	ENST00000319004	T	0.20069	2.1	5.56	4.58	0.56647	.	0.000000	0.64402	D	0.000001	T	0.40015	0.1100	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27226	-1.0080	10	0.87932	D	0	-10.4355	6.629	0.22847	0.0:0.6811:0.1587:0.1602	.	701	P57678	GEMI4_HUMAN	F	701	ENSP00000321706:L701F	ENSP00000321706:L701F	L	-	3	2	GEMIN4	595930	0.856000	0.29760	0.999000	0.59377	0.571000	0.35966	-0.104000	0.10923	1.335000	0.45486	0.650000	0.86243	TTG	-	NULL		0.547	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	protein_coding	OTTHUMT00000437181.1	C	NM_015721		595930	-1	no_errors	NM_015721	genbank	human	reviewed	54_36p	missense	SNP	0.97	G
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	T	T	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr17:7578265A>T	ENST00000269305.4	-	6	773	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_ENST00000445888.2_Missense_Mutation_p.I195N|TP53_ENST00000455263.2_Missense_Mutation_p.I195N|TP53_ENST00000413465.2_Missense_Mutation_p.I195N|TP53_ENST00000420246.2_Missense_Mutation_p.I195N|TP53_ENST00000359597.4_Missense_Mutation_p.I195N|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100.0	89.0	93.0					17																	7578265		2203	4300	6503	7518990	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>A	17.37:g.7578265A>T	ENSP00000269305:p.Ile195Asn		7518990	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	superfamily_p53-like transcription factors;superfamily_p53 tetramerization domain;P53_tetramer;HMMPfam_P53_tetramer;P53;HMMPfam_P53;P53_TAD;HMMPfam_P53_TAD	p.I195N	ENST00000269305.4	37	c.584	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	14.23	2.474490	0.43942	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99828	-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99;-6.99	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.54753	D	0.999981	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.994;0.996;0.998;0.998;0.998	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	N	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195N;ENSP00000352610:I195N;ENSP00000269305:I195N;ENSP00000398846:I195N;ENSP00000391127:I195N;ENSP00000391478:I195N;ENSP00000425104:I63N;ENSP00000423862:I102N	ENSP00000269305:I195N	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC	-	HMMPfam_P53		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		7518990	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1	T
CYB561	1534	genome.wustl.edu	37	17	61514835	61514835	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	C	C	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr17:61514835A>C	ENST00000392976.1	-	2	373	c.74T>G	c.(73-75)cTg>cGg	p.L25R	CYB561_ENST00000582997.1_Missense_Mutation_p.L32R|CYB561_ENST00000360793.3_Missense_Mutation_p.L25R|CYB561_ENST00000448884.2_Missense_Mutation_p.L25R|CYB561_ENST00000581163.1_5'Flank|CYB561_ENST00000582034.1_5'UTR|CYB561_ENST00000581573.1_Missense_Mutation_p.L25R|CYB561_ENST00000542042.1_Missense_Mutation_p.L92R|CYB561_ENST00000584031.1_Missense_Mutation_p.L25R|CYB561_ENST00000582297.1_Missense_Mutation_p.L25R|CYB561_ENST00000392975.2_Missense_Mutation_p.L25R	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	25	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)	p.L25R(1)		lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CACCAAGGTCAGGCCCAGCAG	0.672																																																1	Substitution - Missense(1)	ovary(1)	17											56.0	52.0	53.0					17																	61514835		2203	4299	6502	58868567	SO:0001583	missense	1534				CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.74T>G	17.37:g.61514835A>C	ENSP00000376702:p.Leu25Arg		58868567	B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Missense_Mutation	SNP	-	p.L25R	ENST00000392976.1	37	c.74	CCDS11636.1	17	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377018	0.42105	.	.	ENSG00000008283	ENST00000360793;ENST00000392976;ENST00000392975;ENST00000448884;ENST00000542042	T;T;T;T	0.68479	-0.3;-0.3;-0.3;-0.33	4.16	4.16	0.48862	Cytochrome b561/ferric reductase transmembrane (1);	0.085410	0.50627	D	0.000107	D	0.82323	0.5012	M	0.87617	2.895	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.73708	0.979;0.981;0.974;0.971	D	0.85497	0.1189	10	0.72032	D	0.01	-13.2917	12.5503	0.56223	1.0:0.0:0.0:0.0	.	25;25;92;25	B7Z775;B3KTA1;F5H757;P49447	.;.;.;CY561_HUMAN	R	25;25;25;25;92	ENSP00000354028:L25R;ENSP00000376702:L25R;ENSP00000376701:L25R;ENSP00000442773:L92R	ENSP00000354028:L25R	L	-	2	0	CYB561	58868567	1.000000	0.71417	0.938000	0.37757	0.986000	0.74619	8.413000	0.90235	1.763000	0.52060	0.459000	0.35465	CTG	-	NULL		0.672	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB561	protein_coding	OTTHUMT00000444843.1	A	NM_001915		58868567	-1	no_errors	NM_001017916	genbank	human	validated	54_36p	missense	SNP	0.99	C
ATIC	471	genome.wustl.edu	37	2	216203553	216203553	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr2:216203553C>T	ENST00000236959.9	+	12	1476	c.1150C>T	c.(1150-1152)Ctt>Ttt	p.L384F	ATIC_ENST00000435675.1_Missense_Mutation_p.L383F|ATIC_ENST00000540518.1_Missense_Mutation_p.L325F	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	384					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)	p.L384F(1)	ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	TCTCTTTGGTCTTCATTTAAG	0.328			T	ALK	ALCL																																		Dom	yes		2	2q35	471	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase		L	1	Substitution - Missense(1)	ovary(1)	2											84.0	86.0	85.0					2																	216203553		2203	4300	6503	215911798	SO:0001583	missense	471				CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1150C>T	2.37:g.216203553C>T	ENSP00000236959:p.Leu384Phe		215911798	A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	HMMPfam_MGS;HMMPfam_AICARFT_IMPCHas;superfamily_Methylglyoxal synthase-like;superfamily_AICAR transformylase domain of bifunctional purine biosynthesis enzyme ATIC	p.L384F	ENST00000236959.9	37	c.1150	CCDS2398.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.59|19.59	3.857011|3.857011	0.71834|0.71834	.|.	.|.	ENSG00000138363|ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675|ENST00000446622;ENST00000426233	T;T;T|.	0.77489|.	-1.1;-1.1;-1.1|.	6.06|6.06	5.02|5.02	0.67125|0.67125	AICAR transformylase domain (1);Cytidine deaminase-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77772|0.77772	0.4180|0.4180	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.70935|.	0.971;0.971|.	T|T	0.79259|0.79259	-0.1877|-0.1877	10|5	0.51188|.	T|.	0.08|.	-20.3005|-20.3005	13.4663|13.4663	0.61256|0.61256	0.0:0.8685:0.0:0.1315|0.0:0.8685:0.0:0.1315	.|.	383;384|.	E9PBU3;P31939|.	.;PUR9_HUMAN|.	F|F	384;325;383|77;52	ENSP00000236959:L384F;ENSP00000440523:L325F;ENSP00000415935:L383F|.	ENSP00000236959:L384F|.	L|S	+|+	1|2	0|0	ATIC|ATIC	215911798|215911798	0.781000|0.781000	0.28676|0.28676	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	1.338000|1.338000	0.33873|0.33873	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	CTT|TCT	-	HMMPfam_AICARFT_IMPCHas		0.328	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATIC	protein_coding	OTTHUMT00000256610.1	C	NM_004044		215911798	1	no_errors	NM_004044	genbank	human	validated	54_36p	missense	SNP	1	T
ERC2	26059	genome.wustl.edu	37	3	56026090	56026090	+	Silent	SNP	C	C	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr3:56026090C>G	ENST00000288221.6	-	11	2505	c.2250G>C	c.(2248-2250)ctG>ctC	p.L750L		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	750						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)		p.L750L(1)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTTACCTCTCCAGTTCTGCGA	0.483																																																1	Substitution - coding silent(1)	ovary(1)	3											166.0	169.0	168.0					3																	56026090		1950	4139	6089	56001130	SO:0001819	synonymous_variant	26059			AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2250G>C	3.37:g.56026090C>G			56001130	Q2T9F6|Q86TK4	Silent	SNP	superfamily_Prefoldin	p.L750	ENST00000288221.6	37	c.2250	CCDS46851.1	3	.	.	.	.	.	.	.	.	.	.	C	1.878	-0.458648	0.04508	.	.	ENSG00000187672	ENST00000492584	.	.	.	5.79	-5.59	0.02505	.	.	.	.	.	T	0.34629	0.0904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39643	-0.9604	4	.	.	.	-6.2054	0.5712	0.00696	0.3175:0.2802:0.1907:0.2117	.	.	.	.	S	401	.	.	W	-	2	0	ERC2	56001130	0.988000	0.35896	0.965000	0.40720	0.649000	0.38597	0.290000	0.18975	-0.882000	0.03987	-0.897000	0.02905	TGG	-	NULL		0.483	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	protein_coding	OTTHUMT00000350884.2	C	NM_015576		56001130	-1	no_errors	NM_015576	genbank	human	validated	54_36p	silent	SNP	0.94	G
CEP97	79598	genome.wustl.edu	37	3	101474383	101474383	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	G	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr3:101474383C>G	ENST00000341893.3	+	7	1590	c.838C>G	c.(838-840)Cta>Gta	p.L280V	CEP97_ENST00000494050.1_Missense_Mutation_p.L280V|CEP97_ENST00000327230.4_Missense_Mutation_p.L280V			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	280					cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.L280V(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CACTTCTACACTAGGTCTTCA	0.448																																																1	Substitution - Missense(1)	ovary(1)	3											114.0	106.0	109.0					3																	101474383		2203	4300	6503	102957073	SO:0001583	missense	79598			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.838C>G	3.37:g.101474383C>G	ENSP00000342510:p.Leu280Val		102957073	B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	-	p.L280V	ENST00000341893.3	37	c.838	CCDS2944.1	3	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454118	0.26161	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.52057	0.72;0.68;0.73	5.91	2.02	0.26589	.	0.442134	0.22887	N	0.054424	T	0.23532	0.0569	N	0.08118	0	0.19300	N	0.999976	B;B;B	0.25351	0.039;0.124;0.081	B;B;B	0.25506	0.025;0.061;0.021	T	0.17048	-1.0382	10	0.25106	T	0.35	0.3703	7.4482	0.27223	0.0:0.4712:0.3622:0.1667	.	280;280;280	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	V	280	ENSP00000342510:L280V;ENSP00000325881:L280V;ENSP00000418185:L280V	ENSP00000325881:L280V	L	+	1	2	CEP97	102957073	0.918000	0.31147	0.157000	0.22605	0.924000	0.55760	1.860000	0.39428	0.093000	0.17368	0.460000	0.39030	CTA	-	NULL		0.448	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP97	protein_coding	OTTHUMT00000353597.2	C	NM_024548		102957073	1	no_errors	NM_024548	genbank	human	provisional	54_36p	missense	SNP	0.61	G
CDH12	1010	genome.wustl.edu	37	5	21975435	21975435	+	Silent	SNP	G	G	A	rs111835226		TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	G	G	G	A	G	G	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr5:21975435G>A	ENST00000382254.1	-	6	1377	c.291C>T	c.(289-291)ggC>ggT	p.G97G	CDH12_ENST00000504376.2_Silent_p.G97G|CDH12_ENST00000522262.1_Silent_p.G97G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	97	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G97G(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CGGTGCCAGCGCCATCTCCTG	0.478										HNSCC(59;0.17)																																						1	Substitution - coding silent(1)	ovary(1)	5											61.0	62.0	61.0					5																	21975435		2041	3872	5913	22011192	SO:0001819	synonymous_variant	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.291C>T	5.37:g.21975435G>A			22011192	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	HMMPfam_Cadherin_C;HMMPfam_Cadherin;superfamily_Cadherin-like	p.G97	ENST00000382254.1	37	c.291	CCDS3890.1	5																																																																																			-	HMMPfam_Cadherin		0.478	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	protein_coding	OTTHUMT00000207139.1	G	NM_004061		22011192	-1	no_errors	NM_004061	genbank	human	reviewed	54_36p	silent	SNP	0.99	A
STK10	6793	genome.wustl.edu	37	5	171583695	171583695	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr5:171583695A>G	ENST00000176763.5	-	2	597	c.254T>C	c.(253-255)cTg>cCg	p.L85P		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.L85P(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGGTGGCCAGGATCTCAAT	0.577																																																1	Substitution - Missense(1)	ovary(1)	5											200.0	140.0	161.0					5																	171583695		2203	4300	6503	171516300	SO:0001583	missense	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.254T>C	5.37:g.171583695A>G	ENSP00000176763:p.Leu85Pro		171516300	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	-	p.L85P	ENST00000176763.5	37	c.254	CCDS34290.1	5	.	.	.	.	.	.	.	.	.	.	A	23.9	4.470180	0.84533	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.71817	-0.6	5.53	5.53	0.82687	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	0.64402	D	0.000007	D	0.89399	0.6704	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92717	0.6188	10	0.87932	D	0	.	13.6091	0.62065	1.0:0.0:0.0:0.0	.	85	O94804	STK10_HUMAN	P	85	ENSP00000176763:L85P	ENSP00000176763:L85P	L	-	2	0	STK10	171516300	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.299000	0.96137	2.092000	0.63282	0.459000	0.35465	CTG	-	NULL		0.577	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	protein_coding	OTTHUMT00000372374.2	A	NM_005990		171516300	-1	no_errors	NM_005990	genbank	human	reviewed	54_36p	missense	SNP	1	G
EPHA7	2045	genome.wustl.edu	37	6	94120755	94120755	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	A	A	G	G	A	A	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr6:94120755A>G	ENST00000369303.4	-	3	480	c.296T>C	c.(295-297)tTt>tCt	p.F99S	EPHA7_ENST00000369297.1_Missense_Mutation_p.F99S	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	99	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.F99S(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAATTCTACAAAAATCCTTTG	0.423																																																1	Substitution - Missense(1)	ovary(1)	6											108.0	111.0	110.0					6																	94120755		2203	4299	6502	94177476	SO:0001583	missense	2045			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.296T>C	6.37:g.94120755A>G	ENSP00000358309:p.Phe99Ser		94177476	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	Ephrin_lbd;HMMPfam_Ephrin_lbd;Pkinase_Tyr;HMMPfam_Pkinase_Tyr;SAM_1;HMMPfam_SAM_1;fn3;HMMPfam_fn3	p.F99S	ENST00000369303.4	37	c.296	CCDS5031.1	6	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952034	0.73787	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.03635	3.86;3.86	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.10380	0.0254	M	0.62723	1.935	0.80722	D	1	P;D;D;D	0.89917	0.718;1.0;1.0;1.0	B;D;D;D	0.97110	0.349;1.0;0.999;1.0	T	0.01280	-1.1397	10	0.66056	D	0.02	.	15.9043	0.79412	1.0:0.0:0.0:0.0	.	99;99;99;99	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	S	99	ENSP00000358309:F99S;ENSP00000358303:F99S	ENSP00000358303:F99S	F	-	2	0	EPHA7	94177476	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.046000	0.71029	2.219000	0.72066	0.533000	0.62120	TTT	-	HMMPfam_Ephrin_lbd		0.423	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	A			94177476	-1	no_errors	NM_004440	genbank	human	reviewed	54_36p	missense	SNP	1	G
MUC3A	4584	genome.wustl.edu	37	7	100552066	100552066	+	Nonsense_Mutation	SNP	G	G	T			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	G	G	G	T	G	G	Unknown	Valid	Somatic	4	Capture	454_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr7:100552066G>T	ENST00000319509.7	+	1	817	c.817G>T	c.(817-819)Gaa>Taa	p.E273*				Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	1938	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.E273*(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TTTCAGTACAGAAAATGTGGG	0.463																																																1	Substitution - Nonsense(1)	ovary(1)	7											824.0	821.0	822.0					7																	100552066		876	1991	2867	100390002	SO:0001587	stop_gained	57876			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.817G>T	7.37:g.100552066G>T	ENSP00000324834:p.Glu273*		100390002	O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Nonsense_Mutation	SNP	-	p.E564*	ENST00000319509.7	37	c.1690		7	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965749	0.53507	.	.	ENSG00000169894	ENST00000319509	.	.	.	1.5	1.5	0.22942	.	.	.	.	.	.	.	.	.	.	.	0.31099	N	0.710612	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-0.5871	3.8787	0.09068	0.2324:0.0:0.7676:0.0	.	.	.	.	X	273	.	ENSP00000324834:E273X	E	+	1	0	MUC3A	100390002	0.000000	0.05858	0.030000	0.17652	0.032000	0.12392	0.372000	0.20467	1.115000	0.41800	0.313000	0.20887	GAA	-	NULL		0.463	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	MUC3B	protein_coding	OTTHUMT00000347215.1	G	XM_001725354		100390002	1	no_start_codon	ENST00000332750	ensembl	human	known	54_36p	nonsense	SNP	0.02	T
SEMA4D	10507	genome.wustl.edu	37	9	92003959	92003959	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1428-01A-01W-0549-09	TCGA-24-1428-10A-01W-0549-09	C	C	C	T	C	C	Unknown	Valid	Somatic	4	Capture	Sanger_PCR_WGA	1	dbGAP	Illumina GAIIx	52866517-eddf-4d63-a121-a296d6b2d264	a22faee3-dfd0-479d-81f5-c60b73449c0c	g.chr9:92003959C>T	ENST00000450295.1	-	10	1554	c.778G>A	c.(778-780)Gac>Aac	p.D260N	SEMA4D_ENST00000343780.4_Missense_Mutation_p.D260N|SEMA4D_ENST00000356444.2_Missense_Mutation_p.D260N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.D260N|SEMA4D_ENST00000420987.1_Missense_Mutation_p.D260N|SEMA4D_ENST00000422704.2_Missense_Mutation_p.D260N|SEMA4D_ENST00000339861.4_Missense_Mutation_p.D260N|SEMA4D_ENST00000455551.2_Missense_Mutation_p.D260N			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	260	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|immune response (GO:0006955)|leukocyte aggregation (GO:0070486)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ossification involved in bone maturation (GO:0043931)|positive regulation of cell migration (GO:0030335)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)|regulation of dendrite morphogenesis (GO:0048814)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.D260N(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCGCCCTGGTCCCCCTAAAAC	0.602																																																1	Substitution - Missense(1)	ovary(1)	9											91.0	98.0	96.0					9																	92003959		2203	4300	6503	91193779	SO:0001583	missense	10507			U60800	CCDS6685.1, CCDS47991.1	9q22-q31	2013-01-11			ENSG00000187764	ENSG00000187764		"""Semaphorins"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10732	protein-coding gene	gene with protein product	"""M-sema G"""	601866	"""chromosome 9 open reading frame 164"""	SEMAJ, C9orf164		8876214, 8969198	Standard	NM_006378		Approved	CD100, coll-4, FLJ39737	uc004aqo.1	Q92854	OTTHUMG00000020185	ENST00000450295.1:c.778G>A	9.37:g.92003959C>T	ENSP00000416523:p.Asp260Asn		91193779	B2RPM6|Q7Z5S4|Q8N8B0	Missense_Mutation	SNP	-	p.D260N	ENST00000450295.1	37	c.778	CCDS6685.1	9	.	.	.	.	.	.	.	.	.	.	C	34	5.392558	0.96009	.	.	ENSG00000187764	ENST00000339861;ENST00000420987;ENST00000455551;ENST00000343780;ENST00000450295;ENST00000438547;ENST00000356444;ENST00000422704	T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.85712	0.5760	H	0.95712	3.71	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90114	0.4194	10	0.87932	D	0	.	18.396	0.90499	0.0:1.0:0.0:0.0	.	260;260	Q92854-2;Q92854	.;SEM4D_HUMAN	N	260	ENSP00000344923:D260N;ENSP00000391733:D260N;ENSP00000411981:D260N;ENSP00000343418:D260N;ENSP00000416523:D260N;ENSP00000405102:D260N;ENSP00000348822:D260N;ENSP00000388768:D260N	ENSP00000344923:D260N	D	-	1	0	SEMA4D	91193779	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	7.314000	0.78988	2.564000	0.86499	0.561000	0.74099	GAC	-	NULL		0.602	SEMA4D-018	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA4D	protein_coding	OTTHUMT00000342411.1	C	NM_006378		91193779	-1	no_errors	NM_006378	genbank	human	validated	54_36p	missense	SNP	1	T
