#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
WNK1	65125	broad.mit.edu	37	12	980512	980512	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:980512C>T	ENST00000315939.6	+	9	2864	c.2221C>T	c.(2221-2223)Cag>Tag	p.Q741*	WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q741*|WNK1_ENST00000537687.1_Nonsense_Mutation_p.Q1154*|WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q334*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1239*	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	741					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACATCCTCAGCAGGTGAGAAC	0.428																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(3460-3462)Cag>Tag		WNK lysine deficient protein kinase 1							112.0	101.0	105.0					12																	980512		2203	4300	6503	SO:0001587	stop_gained	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:980512C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2221C>T	12.37:g.980512C>T	ENSP00000313059:p.Gln741*					WNK1_ENST00000340908.4_Nonsense_Mutation_p.Q334*|WNK1_ENST00000535572.1_Nonsense_Mutation_p.Q741*|WNK1_ENST00000315939.6_Nonsense_Mutation_p.Q741*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.Q1239*	p.Q1154*	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		10	4103	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		899					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Nonsense_Mutation	SNP	ENST00000315939.6	37	c.3460C>T	CCDS8506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	12.061490|12.061490	0.99632|0.99632	.|.	.|.	ENSG00000060237|ENSG00000060237	ENST00000545285|ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	.|0.000000	.|0.56097	.|D	.|0.000025	T|.	0.54319|.	0.1851|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53415|.	-0.8442|.	3|.	.|0.13470	.|T	.|0.59	-6.7872|-6.7872	15.5529|15.5529	0.76167|0.76167	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	V|X	60|741;741;1154;1239;334	.|.	.|ENSP00000313059:Q741X	A|Q	+|+	2|1	0|0	WNK1|WNK1	850773|850773	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.934000|0.934000	0.57294|0.57294	4.351000|4.351000	0.59398|0.59398	2.587000|2.587000	0.87381|0.87381	0.557000|0.557000	0.71058|0.71058	GCA|CAG		0.428	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		6	17	0	0	0	1	0	6	17				
TRMT2B	79979	broad.mit.edu	37	X	100275475	100275475	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:100275475C>A	ENST00000372936.3	-	11	1941		c.e11+1		TRMT2B_ENST00000372939.1_Splice_Site|TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372935.1_Splice_Site|TRMT2B_ENST00000338687.7_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)							mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGCTGTGTACCATTGAAGGC	0.488																																						ENST00000338687.7																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e10+1		tRNA methyltransferase 2 homolog B (S. cerevisiae)							148.0	124.0	132.0					X																	100275475		2203	4300	6503	SO:0001630	splice_region_variant	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100275475C>A	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1168+1G>T	X.37:g.100275475C>A						TRMT2B_ENST00000372935.1_Splice_Site|TRMT2B_ENST00000372936.3_Splice_Site|TRMT2B_ENST00000372939.1_Splice_Site|TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site				Q96GJ1	TRM2_HUMAN			10	1839	-								A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Splice_Site	SNP	ENST00000372936.3	37		CCDS14477.1	.	.	.	.	.	.	.	.	.	.	C	7.389	0.630294	0.14257	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	.	.	.	4.55	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6413	0.45594	0.3476:0.6524:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRMT2B	100162131	1.000000	0.71417	0.973000	0.42090	0.130000	0.20726	1.767000	0.38501	0.294000	0.22547	-0.224000	0.12420	.		0.488	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917	Intron	81	64	1	0	6.14238e-36	1	7.40236e-36	81	64				
KRTAP5-5	439915	broad.mit.edu	37	11	1651459	1651459	+	Missense_Mutation	SNP	G	G	T	rs201822473		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:1651459G>T	ENST00000399676.2	+	1	427	c.389G>T	c.(388-390)gGc>gTc	p.G130V		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	130	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.692																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(388-390)gGc>gTc		keratin associated protein 5-5							4.0	8.0	7.0					11																	1651459		1294	2900	4194	SO:0001583	missense	439915					keratin filament		g.chr11:1651459G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.389G>T	11.37:g.1651459G>T	ENSP00000382584:p.Gly130Val						p.G130V	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	427	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	130			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.389G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	T	9.031	0.987211	0.18889	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01106	5.33	3.66	3.66	0.41972	.	.	.	.	.	T	0.04770	0.0129	M	0.77820	2.39	0.38529	D	0.948932	D	0.59357	0.985	P	0.56434	0.798	T	0.31392	-0.9945	9	0.66056	D	0.02	.	12.8924	0.58080	0.0:0.0:1.0:0.0	.	130	Q701N2	KRA55_HUMAN	V	130;101	ENSP00000382584:G130V	ENSP00000382584:G130V	G	+	2	0	KRTAP5-5	1608035	0.219000	0.23619	0.984000	0.44739	0.599000	0.36880	0.367000	0.20382	1.597000	0.50072	0.550000	0.68814	GGC		0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			4	29	1	0	0.217242	1	0.221965	4	29				
KRT20	54474	broad.mit.edu	37	17	39041055	39041055	+	Missense_Mutation	SNP	C	C	T	rs201355464		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:39041055C>T	ENST00000167588.3	-	1	424	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	128	Coil 1B.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.R128Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CACCTGACTTCGCAGCTCTTC	0.438																																						ENST00000167588.3																			1	Substitution - Missense(1)	p.R128Q(1)	large_intestine(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(382-384)cGa>cAa		keratin 20							87.0	85.0	86.0					17																	39041055		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041055C>T	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.383G>A	17.37:g.39041055C>T	ENSP00000167588:p.Arg128Gln						p.R128Q	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			1	424	-		Breast(137;0.000301)|Ovarian(249;0.15)	128			Coil 1B.|Rod.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.383G>A	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	C	6.952	0.545479	0.13312	.	.	ENSG00000171431	ENST00000167588	D	0.92595	-3.07	5.5	-2.14	0.07123	Filament (1);	0.360696	0.23393	N	0.048673	T	0.80116	0.4564	N	0.13299	0.325	0.09310	N	0.999995	B	0.17465	0.022	B	0.11329	0.006	T	0.62835	-0.6770	10	0.02654	T	1	.	14.3822	0.66919	0.0:0.5352:0.0:0.4648	.	128	P35900	K1C20_HUMAN	Q	128	ENSP00000167588:R128Q	ENSP00000167588:R128Q	R	-	2	0	KRT20	36294581	0.000000	0.05858	0.034000	0.17996	0.049000	0.14656	-0.815000	0.04481	-0.436000	0.07254	-0.302000	0.09304	CGA		0.438	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			4	31	0	0	0	1	0	4	31				
NFXL1	152518	broad.mit.edu	37	4	47886439	47886439	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:47886439G>A	ENST00000507489.1	-	15	2016	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S	NFXL1_ENST00000329043.3_Missense_Mutation_p.P614S|NFXL1_ENST00000381538.3_Missense_Mutation_p.P614S	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	614						integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGTTCCCAAGGGCCTGTAGGC	0.358																																						ENST00000507489.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						c.(1840-1842)Cct>Tct		nuclear transcription factor, X-box binding-like 1							65.0	70.0	68.0					4																	47886439		2203	4300	6503	SO:0001583	missense	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47886439G>A	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1840C>T	4.37:g.47886439G>A	ENSP00000422037:p.Pro614Ser					NFXL1_ENST00000381538.3_Missense_Mutation_p.P614S|NFXL1_ENST00000329043.3_Missense_Mutation_p.P614S	p.P614S	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN			15	2016	-			614					B1Q2K1|Q86VG1|Q8WVH1	Missense_Mutation	SNP	ENST00000507489.1	37	c.1840C>T	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.156811	0.78114	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	T;T;T	0.27890	1.64;1.64;1.64	5.52	5.52	0.82312	Zinc finger, NF-X1-type (1);	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.64313	-0.6437	10	0.49607	T	0.09	-13.1244	19.444	0.94840	0.0:0.0:1.0:0.0	.	614	Q6ZNB6	NFXL1_HUMAN	S	614	ENSP00000370949:P614S;ENSP00000422037:P614S;ENSP00000333113:P614S	ENSP00000333113:P614S	P	-	1	0	NFXL1	47581196	1.000000	0.71417	0.981000	0.43875	0.715000	0.41141	8.272000	0.89885	2.596000	0.87737	0.460000	0.39030	CCT		0.358	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995		15	26	0	0	0	1	0	15	26				
TMLHE	55217	broad.mit.edu	37	X	154736769	154736769	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:154736769T>C	ENST00000334398.3	-	6	930	c.785A>G	c.(784-786)cAt>cGt	p.H262R	TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R|TMLHE-AS1_ENST00000452506.1_RNA	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	262					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTCCTTCATGTTTAAGACA	0.363																																						ENST00000334398.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(784-786)cAt>cGt		trimethyllysine hydroxylase, epsilon	Succinic acid(DB00139)|Vitamin C(DB00126)						111.0	108.0	109.0					X																	154736769		2203	4298	6501	SO:0001583	missense	55217				carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity	g.chrX:154736769T>C	AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.785A>G	X.37:g.154736769T>C	ENSP00000335261:p.His262Arg					TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R	p.H262R	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN			6	930	-	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		262					A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	ENST00000334398.3	37	c.785A>G	CCDS14768.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.615264	0.66672	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.82255	-1.59;-1.59	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	M	0.76838	2.35	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.69824	0.961;0.966;0.966	D	0.89609	0.3840	10	0.52906	T	0.07	-13.1246	11.0237	0.47732	0.0:0.0:0.0:1.0	.	262;262;262	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	R	262	ENSP00000335261:H262R;ENSP00000358447:H262R	ENSP00000335261:H262R	H	-	2	0	TMLHE	154389963	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.873000	0.75541	1.568000	0.49683	0.402000	0.26972	CAT		0.363	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058817.1	NM_018196		63	125	0	0	0	1	0	63	125				
PCDHB5	26167	broad.mit.edu	37	5	140515080	140515080	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr5:140515080C>T	ENST00000231134.5	+	1	281	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	22					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATATTGTTGCTTTTGTGGGA	0.488																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(64-66)Ctt>Ttt									102.0	91.0	95.0					5																	140515080		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515080C>T	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.64C>T	5.37:g.140515080C>T	ENSP00000231134:p.Leu22Phe						p.L22F	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	281	+			22					Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.64C>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	3.138	-0.177034	0.06380	.	.	ENSG00000113209	ENST00000231134	T	0.54479	0.57	5.37	-2.2	0.06994	.	.	.	.	.	T	0.37073	0.0990	L	0.48174	1.505	0.24126	N	0.995787	B	0.06786	0.001	B	0.13407	0.009	T	0.34527	-0.9825	9	0.09590	T	0.72	.	7.4182	0.27057	0.0:0.4142:0.1108:0.475	.	22	Q9Y5E4	PCDB5_HUMAN	F	22	ENSP00000231134:L22F	ENSP00000231134:L22F	L	+	1	0	PCDHB5	140495264	0.000000	0.05858	0.962000	0.40283	0.764000	0.43329	-2.577000	0.00909	-0.124000	0.11724	0.555000	0.69702	CTT		0.488	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		23	22	0	0	0	1	0	23	22				
EGF	1950	broad.mit.edu	37	4	110932374	110932374	+	Silent	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:110932374T>C	ENST00000265171.5	+	24	3832	c.3387T>C	c.(3385-3387)acT>acC	p.T1129T	EGF_ENST00000503392.1_Silent_p.T1088T|EGF_ENST00000509793.1_Silent_p.T1087T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1129					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGCAACCAACTTCATGGAGGC	0.453																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(3385-3387)acT>acC		epidermal growth factor	Sulindac(DB00605)						58.0	62.0	60.0					4																	110932374		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110932374T>C	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3387T>C	4.37:g.110932374T>C						EGF_ENST00000509793.1_Silent_p.T1087T|EGF_ENST00000503392.1_Silent_p.T1088T	p.T1129T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	24	3832	+		Hepatocellular(203;0.0893)	1129					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.3387T>C	CCDS3689.1																																																																																				0.453	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			21	22	0	0	0	1	0	21	22				
LCT	3938	broad.mit.edu	37	2	136566894	136566894	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:136566894A>G	ENST00000264162.2	-	8	3033	c.3023T>C	c.(3022-3024)gTg>gCg	p.V1008A	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1008	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GTTGCTTGCCACCAAGCCATT	0.507																																						ENST00000264162.2																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(3022-3024)gTg>gCg		lactase							62.0	66.0	64.0					2																	136566894		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136566894A>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3023T>C	2.37:g.136566894A>G	ENSP00000264162:p.Val1008Ala						p.V1008A	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	8	3033	-			1008			4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.3023T>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.105711	0.37145	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.51574	0.7	5.78	4.56	0.56223	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.151840	0.06059	N	0.658098	T	0.45994	0.1370	L	0.43598	1.365	0.22835	N	0.998679	B	0.15719	0.014	B	0.21360	0.034	T	0.33394	-0.9870	10	0.54805	T	0.06	-1.7706	11.8479	0.52395	0.8691:0.0:0.0:0.1309	.	1008	P09848	LPH_HUMAN	A	1008;440	ENSP00000264162:V1008A	ENSP00000264162:V1008A	V	-	2	0	LCT	136283364	0.675000	0.27558	0.995000	0.50966	0.672000	0.39443	4.302000	0.59092	2.200000	0.70718	0.460000	0.39030	GTG		0.507	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		15	25	0	0	0	1	0	15	25				
CCT6P3	643180	broad.mit.edu	37	7	64498755	64498755	+	RNA	SNP	G	G	C	rs182969532	byFrequency	TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:64498755G>C	ENST00000426828.1	+	0	18					NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		gcaggatggcgacggcCGTCC	0.746													.|||	593	0.118411	0.0144	0.1571	5008	,	,		4197	0.0069		0.3121	False		,,,				2504	0.1472					ENST00000426828.1																			0																																																			0							g.chr7:64498755G>C			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64498755G>C								NR_033416.1						0	18	+									RNA	SNP	ENST00000426828.1	37																																																																																						0.746	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			4	2	0	0	0	1	0	4	2				
KRTAP5-5	439915	broad.mit.edu	37	11	1651442	1651442	+	Silent	SNP	G	G	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:1651442G>T	ENST00000399676.2	+	1	410	c.372G>T	c.(370-372)ggG>ggT	p.G124G		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	124	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G124G(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCTGTGGGGGGTCCAAGGGGG	0.692																																						ENST00000399676.2																			2	Substitution - coding silent(2)	p.G124G(2)	prostate(2)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(370-372)ggG>ggT		keratin associated protein 5-5																																				SO:0001819	synonymous_variant	439915					keratin filament		g.chr11:1651442G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.372G>T	11.37:g.1651442G>T							p.G124G	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	410	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	124			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Silent	SNP	ENST00000399676.2	37	c.372G>T	CCDS41592.1																																																																																				0.692	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			5	26	1	0	0.0215528	1	0.0230223	5	26				
CT55	54967	broad.mit.edu	37	X	134305074	134305074	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:134305074C>A	ENST00000276241.6	-	1	248	c.22G>T	c.(22-24)Gct>Tct	p.A8S	CXorf48_ENST00000344129.2_Missense_Mutation_p.A8S	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		8										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AAGGCCAAAGCAAGTCTCAGA	0.627																																						ENST00000344129.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(22-24)Gct>Tct		chromosome X open reading frame 48							125.0	98.0	107.0					X																	134305074		2203	4300	6503	SO:0001583	missense	54967							g.chrX:134305074C>A																												ENST00000276241.6:c.22G>T	X.37:g.134305074C>A	ENSP00000276241:p.Ala8Ser					CXorf48_ENST00000276241.6_Missense_Mutation_p.A8S	p.A8S	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN			1	248	-	Acute lymphoblastic leukemia(192;0.000127)		8					Q9NWY8	Missense_Mutation	SNP	ENST00000276241.6	37	c.22G>T	CCDS35400.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277179	0.23307	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.23348	1.91;1.94	2.31	-0.0505	0.13830	.	.	.	.	.	T	0.14787	0.0357	L	0.38175	1.15	0.09310	N	1	B	0.32409	0.37	B	0.17098	0.017	T	0.15983	-1.0418	9	0.56958	D	0.05	0.0293	4.2443	0.10663	0.0:0.4749:0.0:0.5251	.	8	Q8WUE5	CX048_HUMAN	S	8	ENSP00000276241:A8S;ENSP00000343893:A8S	ENSP00000276241:A8S	A	-	1	0	CXorf48	134132740	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.157000	0.16402	-0.096000	0.12329	0.550000	0.68814	GCT		0.627	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058404.1			8	58	1	0	0.00307968	1	0.00336616	8	58				
LRRC2	79442	broad.mit.edu	37	3	46586577	46586577	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:46586577T>C	ENST00000395905.3	-	3	684	c.292A>G	c.(292-294)Agc>Ggc	p.S98G	LRRC2_ENST00000496388.1_5'Flank|LRRC2_ENST00000296144.3_Missense_Mutation_p.S98G	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	98										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AACGCACTGCTCCGTTTGCCT	0.542																																						ENST00000395905.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17						c.(292-294)Agc>Ggc		leucine rich repeat containing 2							262.0	228.0	239.0					3																	46586577		2203	4300	6503	SO:0001583	missense	79442							g.chr3:46586577T>C	AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.292A>G	3.37:g.46586577T>C	ENSP00000379241:p.Ser98Gly					LRRC2_ENST00000296144.3_Missense_Mutation_p.S98G	p.S98G	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)	3	684	-		Ovarian(412;0.0563)	98					B2RDQ7|Q96LT5	Missense_Mutation	SNP	ENST00000395905.3	37	c.292A>G	CCDS2741.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175672	0.38413	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.26223	1.75;1.75	5.34	1.58	0.23477	.	1.126930	0.06423	N	0.722717	T	0.16385	0.0394	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30592	-0.9973	10	0.36615	T	0.2	.	5.5988	0.17341	0.0:0.1726:0.4177:0.4097	.	98	Q9BYS8	LRRC2_HUMAN	G	98	ENSP00000379241:S98G;ENSP00000296144:S98G	ENSP00000296144:S98G	S	-	1	0	LRRC2	46561581	0.000000	0.05858	0.009000	0.14445	0.578000	0.36192	0.277000	0.18734	0.074000	0.16767	0.529000	0.55759	AGC		0.542	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257375.2			9	214	0	0	0	1	0	9	214				
MAP4	4134	broad.mit.edu	37	3	47951608	47951608	+	Intron	SNP	G	G	C	rs557882920		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:47951608G>C	ENST00000360240.6	-	8	2518				MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.L42V|MAP4_ENST00000426837.2_Missense_Mutation_p.L1452V|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	GCTGATTCCAGAACCTCTAGA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		19263	0.001		0.0	False		,,,				2504	0.0					ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(4354-4356)Ctg>Gtg		microtubule-associated protein 4							81.0	78.0	79.0					3																	47951608		1854	4103	5957	SO:0001627	intron_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47951608G>C		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+4698C>G	3.37:g.47951608G>C						MAP4_ENST00000395734.3_Intron|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.L42V	p.L1452V			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	10	4441	-			832					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.4354C>G	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	G	1.726	-0.495323	0.04291	.	.	ENSG00000047849	ENST00000264724;ENST00000426837;ENST00000383736	T;T	0.35605	1.3;3.07	5.54	-1.11	0.09840	.	.	.	.	.	T	0.21841	0.0526	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.25847	-1.0120	7	.	.	.	.	10.5205	0.44916	0.0:0.4684:0.3158:0.2159	.	42;42	P27816-4;E9PGM5	.;.	V	42;1452;42	ENSP00000264724:L42V;ENSP00000407602:L1452V	.	L	-	1	2	MAP4	47926612	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-0.422000	0.07043	-0.564000	0.06070	0.462000	0.41574	CTG		0.408	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		11	44	0	0	0	1	0	11	44				
RTTN	25914	broad.mit.edu	37	18	67721477	67721477	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr18:67721477A>G	ENST00000255674.6	-	38	5361	c.5075T>C	c.(5074-5076)cTg>cCg	p.L1692P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1692					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATGACTGCAGAAGCCTGGA	0.418																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(5074-5076)cTg>cCg		rotatin							64.0	60.0	61.0					18																	67721477		1872	4101	5973	SO:0001583	missense	25914						binding	g.chr18:67721477A>G	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.5075T>C	18.37:g.67721477A>G	ENSP00000255674:p.Leu1692Pro					RTTN_ENST00000454359.1_3'UTR	p.L1692P	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			38	5361	-		Esophageal squamous(42;0.129)	1692					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.5075T>C	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609222	0.66558	.	.	ENSG00000176225	ENST00000255674	T	0.61627	0.09	5.32	5.32	0.75619	.	0.388092	0.24664	N	0.036602	T	0.74107	0.3673	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77096	-0.2714	10	0.87932	D	0	.	13.0891	0.59158	1.0:0.0:0.0:0.0	.	1692	Q86VV8	RTTN_HUMAN	P	1692	ENSP00000255674:L1692P	ENSP00000255674:L1692P	L	-	2	0	RTTN	65872457	0.986000	0.35501	0.993000	0.49108	0.797000	0.45037	5.447000	0.66606	2.132000	0.65825	0.482000	0.46254	CTG		0.418	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		13	13	0	0	0	1	0	13	13				
SIGLEC14	100049587	broad.mit.edu	37	19	52147181	52147181	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:52147181C>T	ENST00000360844.6	-	5	904	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	288	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R281L(1)|p.R288L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTTTCCCTCCCGGAACCAGCT	0.597																																						ENST00000360844.6																			2	Substitution - Missense(2)	p.R281L(1)|p.R288L(1)	kidney(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(862-864)cGg>cAg		sialic acid binding Ig-like lectin 14							38.0	43.0	41.0					19																	52147181		1848	4055	5903	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147181C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.863G>A	19.37:g.52147181C>T	ENSP00000354090:p.Arg288Gln					SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	p.R288Q	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	904	-		all_neural(266;0.0299)	288			Ig-like C2-type 2.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.863G>A	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	C	4.961	0.178521	0.09443	.	.	ENSG00000254415	ENST00000360844	T	0.12879	2.64	3.09	-6.17	0.02091	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.164860	0.02702	N	0.111867	T	0.09024	0.0223	L	0.48935	1.535	0.09310	N	1	B	0.25904	0.137	B	0.21360	0.034	T	0.24404	-1.0161	10	0.19590	T	0.45	.	0.4252	0.00462	0.3758:0.1709:0.132:0.3213	.	288	Q08ET2	SIG14_HUMAN	Q	288	ENSP00000354090:R288Q	ENSP00000354090:R288Q	R	-	2	0	SIGLEC14	56838993	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.913000	0.01580	-1.498000	0.01824	-0.251000	0.11542	CGG		0.597	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		17	3	0	0	0	1	0	17	3				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			23	38	0	0	0	1	0	23	38				
MXRA5	25878	broad.mit.edu	37	X	3241758	3241758	+	Silent	SNP	C	C	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:3241758C>T	ENST00000217939.6	-	5	2122	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	656	Ig-like C2-type 2.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCCCCTTGCTGGTTGACAG	0.493																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1966-1968)caG>caA		matrix-remodelling associated 5							97.0	84.0	89.0					X																	3241758		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3241758C>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1968G>A	X.37:g.3241758C>T							p.Q656Q	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	2122	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	656			Ig-like C2-type 2.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.1968G>A	CCDS14124.1																																																																																				0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		28	170	0	0	0	1	0	28	170				
PDGFC	56034	broad.mit.edu	37	4	157689135	157689135	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:157689135A>T	ENST00000502773.1	-	5	1201	c.711T>A	c.(709-711)gaT>gaA	p.D237E	PDGFC_ENST00000542208.1_Missense_Mutation_p.D82E|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Missense_Mutation_p.D237E|PDGFC_ENST00000541126.1_Missense_Mutation_p.D74E	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	237					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GAAGGTTCAGATCCACCACTA	0.363																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(709-711)gaT>gaA		platelet derived growth factor C							131.0	123.0	126.0					4																	157689135		2203	4300	6503	SO:0001583	missense	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157689135A>T	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.711T>A	4.37:g.157689135A>T	ENSP00000422464:p.Asp237Glu					PDGFC_ENST00000422544.2_Missense_Mutation_p.D237E|PDGFC_ENST00000542208.1_Missense_Mutation_p.D82E|PDGFC_ENST00000541126.1_Missense_Mutation_p.D74E|PDGFC_ENST00000504672.1_5'UTR	p.D237E	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	5	1201	-	all_hematologic(180;0.24)	Renal(120;0.0458)	237					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Missense_Mutation	SNP	ENST00000502773.1	37	c.711T>A	CCDS3795.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385294	0.61956	.	.	ENSG00000145431	ENST00000502773;ENST00000541126;ENST00000542208;ENST00000422544	T;T;T;T	0.49139	2.14;0.79;0.79;1.87	5.35	2.74	0.32292	.	0.050072	0.85682	D	0.000000	T	0.38612	0.1047	M	0.78801	2.425	0.46356	D	0.999005	P;B	0.48694	0.914;0.0	B;B	0.31946	0.138;0.003	T	0.25745	-1.0123	10	0.44086	T	0.13	-7.4708	6.9626	0.24605	0.7931:0.0:0.0763:0.1306	.	82;237	B4E3A5;Q9NRA1	.;PDGFC_HUMAN	E	237;74;82;237	ENSP00000422464:D237E;ENSP00000442943:D74E;ENSP00000439728:D82E;ENSP00000410048:D237E	ENSP00000410048:D237E	D	-	3	2	PDGFC	157908585	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.421000	0.34815	0.275000	0.22094	0.533000	0.62120	GAT		0.363	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			5	76	0	0	0	1	0	5	76				
EPHB4	2050	broad.mit.edu	37	7	100403136	100403136	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:100403136G>C	ENST00000358173.3	-	15	3133	c.2665C>G	c.(2665-2667)Cgg>Ggg	p.R889G	EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	889	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> W (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R889W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATTCTCCCGGGCCACGATT	0.637																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			1	Substitution - Missense(1)	p.R889W(1)	stomach(1)	breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2665-2667)Cgg>Ggg		EPH receptor B4							54.0	62.0	60.0					7																	100403136		2203	4299	6502	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100403136G>C	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2665C>G	7.37:g.100403136G>C	ENSP00000350896:p.Arg889Gly					EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			15	3133	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		889		R -> W (in a gastric adenocarcinoma sample; somatic mutation).	Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.2665C>G	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.256255	0.22965	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.76839	-1.05;-0.8	5.28	-2.03	0.07365	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000096	T	0.49012	0.1532	N	0.04297	-0.235	0.39613	D	0.969913	P;P	0.45531	0.86;0.778	B;B	0.35240	0.198;0.082	T	0.51332	-0.8719	10	0.14656	T	0.56	.	16.2608	0.82541	0.0:0.0:0.6744:0.3256	.	889;889	Q96L35;P54760	.;EPHB4_HUMAN	G	889	ENSP00000353833:R889G;ENSP00000350896:R889G	ENSP00000350896:R889G	R	-	1	2	EPHB4	100241072	0.993000	0.37304	0.989000	0.46669	0.954000	0.61252	0.163000	0.16520	-0.260000	0.09418	-0.397000	0.06425	CGG		0.637	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		33	32	0	0	0	1	0	33	32				
CHD8	57680	broad.mit.edu	37	14	21860845	21860845	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr14:21860845G>C	ENST00000557364.1	-	34	6855	c.6592C>G	c.(6592-6594)Cta>Gta	p.L2198V	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.L1919V|CHD8_ENST00000399982.2_Missense_Mutation_p.L2198V			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2198					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGACTGTCTAGCAAGTGGTTG	0.547																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6592-6594)Cta>Gta		chromodomain helicase DNA binding protein 8							142.0	143.0	143.0					14																	21860845		2048	4182	6230	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21860845G>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6592C>G	14.37:g.21860845G>C	ENSP00000451601:p.Leu2198Val					CHD8_ENST00000430710.3_Missense_Mutation_p.L1919V|CHD8_ENST00000557364.1_Missense_Mutation_p.L2198V	p.L2198V	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	33	6656	-	all_cancers(95;0.00121)		2198					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.6592C>G	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	G	4.448	0.082992	0.08533	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553870	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.21	-2.47	0.06442	.	0.280765	0.32703	N	0.005752	T	0.48077	0.1480	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18304	-1.0341	10	0.22109	T	0.4	-1.201	1.7032	0.02876	0.3536:0.2185:0.3165:0.1114	.	1919	Q9HCK8-2	.	V	1919;2198;1918;2198;35	ENSP00000406288:L1919V;ENSP00000382863:L2198V;ENSP00000451601:L2198V;ENSP00000451071:L35V	ENSP00000262707:L1918V	L	-	1	2	CHD8	20930685	0.320000	0.24616	0.095000	0.20976	0.915000	0.54546	0.436000	0.21526	-0.746000	0.04766	-0.258000	0.10820	CTA		0.547	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		25	113	0	0	0	1	0	25	113				
GSK3B	2932	broad.mit.edu	37	3	119545655	119545655	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:119545655A>T	ENST00000264235.8	-	11	2225	c.1243T>A	c.(1243-1245)Tca>Aca	p.S415T	GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Missense_Mutation_p.S428T	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	415					axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TTGGAAGCTGATGCAGAAGCA	0.473																																						ENST00000264235.8																			0				endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18						c.(1243-1245)Tca>Aca		glycogen synthase kinase 3 beta	Lithium(DB01356)						132.0	119.0	124.0					3																	119545655		2203	4300	6503	SO:0001583	missense	2932				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding	g.chr3:119545655A>T	BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.1243T>A	3.37:g.119545655A>T	ENSP00000264235:p.Ser415Thr					GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Missense_Mutation_p.S428T	p.S415T	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN		GBM - Glioblastoma multiforme(114;0.24)	11	2225	-			415					D3DN89|Q9BWH3|Q9UL47	Missense_Mutation	SNP	ENST00000264235.8	37	c.1243T>A	CCDS54628.1	.	.	.	.	.	.	.	.	.	.	A	7.660	0.684673	0.14973	.	.	ENSG00000082701	ENST00000264235;ENST00000316626;ENST00000539838	T;T	0.60299	0.2;0.26	5.26	4.07	0.47477	.	0.292125	0.32041	N	0.006670	T	0.65770	0.2723	L	0.59436	1.845	0.58432	D	0.999999	B;B	0.34399	0.323;0.452	P;P	0.51806	0.481;0.68	T	0.58875	-0.7559	10	0.17832	T	0.49	-1.0673	12.3825	0.55315	0.859:0.141:0.0:0.0	.	415;428	P49841;P49841-2	GSK3B_HUMAN;.	T	415;428;99	ENSP00000264235:S415T;ENSP00000324806:S428T	ENSP00000264235:S415T	S	-	1	0	GSK3B	121028345	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.157000	0.71846	0.918000	0.36919	0.460000	0.39030	TCA		0.473	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258240.2			3	26	0	0	0	1	0	3	26				
TRRAP	8295	broad.mit.edu	37	7	98507916	98507916	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:98507916C>G	ENST00000359863.4	+	15	1797	c.1588C>G	c.(1588-1590)Caa>Gaa	p.Q530E	TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	530					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCGAGAAGCAAGGAGAAAA	0.617																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(1588-1590)Caa>Gaa		transformation/transcription domain-associated protein							62.0	64.0	63.0					7																	98507916		2202	4300	6502	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98507916C>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.1588C>G	7.37:g.98507916C>G	ENSP00000352925:p.Gln530Glu					TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E	p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		15	1797	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		530					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.1588C>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.905|4.905	0.168189|0.168189	0.09339|0.09339	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.42513|.	0.97;0.97|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Armadillo-type fold (1);|.	0.307386|.	0.33610|.	N|.	0.004738|.	T|T	0.25269|0.25269	0.0614|0.0614	N|N	0.00413|0.00413	-1.525|-1.525	0.40749|0.40749	D|D	0.982908|0.982908	B;B;B|.	0.10296|.	0.003;0.002;0.002|.	B;B;B|.	0.08055|.	0.003;0.001;0.002|.	T|T	0.42464|0.42464	-0.9450|-0.9450	10|5	0.02654|.	T|.	1|.	.|.	20.3018|20.3018	0.98617|0.98617	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	530;244;530|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	E|R	530|244	ENSP00000352925:Q530E;ENSP00000347733:Q530E|.	ENSP00000347733:Q530E|.	Q|S	+|+	1|3	0|2	TRRAP|TRRAP	98345852|98345852	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.989000|2.989000	0.49393|0.49393	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	CAA|AGC		0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		29	30	0	0	0	1	0	29	30				
ABCB9	23457	broad.mit.edu	37	12	123424704	123424704	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:123424704T>C	ENST00000542678.1	-	9	4535	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	566	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGGCTTGCCGTCCAGCAGCAC	0.632																																					Ovarian(49;786 1333 9175 38236)	ENST00000542678.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						c.(1696-1698)gAc>gGc		ATP-binding cassette, sub-family B (MDR/TAP), member 9							30.0	29.0	29.0					12																	123424704		2203	4300	6503	SO:0001583	missense	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123424704T>C	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1697A>G	12.37:g.123424704T>C	ENSP00000440288:p.Asp566Gly					ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G|ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G|ABCB9_ENST00000541983.1_5'UTR	p.D566G			Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	9	4535	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		566			ABC transporter.		B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	c.1697A>G	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.842851	0.91197	.	.	ENSG00000150967	ENST00000280560;ENST00000540285;ENST00000346530;ENST00000392439;ENST00000542678;ENST00000442028;ENST00000546289;ENST00000542448	D;D;D;D;D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83;-2.83	4.8	4.8	0.61643	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	L	0.31578	0.945	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;0.997;0.999	D;D;D;D;D;D	0.87578	0.986;0.998;0.991;0.983;0.971;0.997	D	0.92233	0.5794	10	0.49607	T	0.09	-37.7606	14.4955	0.67683	0.0:0.0:0.0:1.0	.	503;173;566;285;523;566	B4E2J0;B4DFR8;Q9NP78-3;B3KNJ8;Q9NP78-2;Q9NP78	.;.;.;.;.;ABCB9_HUMAN	G	566;503;523;566;566;566;110;192	ENSP00000280560:D566G;ENSP00000441734:D503G;ENSP00000280559:D523G;ENSP00000376234:D566G;ENSP00000440288:D566G;ENSP00000394898:D566G;ENSP00000442281:D110G;ENSP00000440244:D192G	ENSP00000280560:D566G	D	-	2	0	ABCB9	121990657	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.868000	0.87116	2.022000	0.59522	0.383000	0.25322	GAC		0.632	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		9	8	0	0	0	1	0	9	8				
KIAA0319	9856	broad.mit.edu	37	6	24596226	24596226	+	Missense_Mutation	SNP	C	C	T	rs377674724		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:24596226C>T	ENST00000378214.3	-	3	1200	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A217T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	226					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A226T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTTTTGGGGCAGGGGTTGAA	0.562																																						ENST00000535378.1																			1	Substitution - Missense(1)	p.A226T(1)	kidney(1)	breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(649-651)Gcc>Acc		KIAA0319							55.0	51.0	53.0					6																	24596226		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596226C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.676G>A	6.37:g.24596226C>T	ENSP00000367459:p.Ala226Thr					KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A226T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T	p.A217T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	1291	-			226					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.649G>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	6.866	0.529049	0.13127	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06449	3.3;3.3;3.3;3.3;3.3	4.09	-0.0303	0.13915	.	1.262540	0.05663	N	0.587336	T	0.01092	0.0036	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.022	B;B;B	0.18561	0.022;0.015;0.01	T	0.48736	-0.9009	10	0.30078	T	0.28	-1.0065	2.1653	0.03835	0.1341:0.4937:0.1308:0.2414	.	226;217;226	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	226;217;181;226;226	ENSP00000439700:A226T;ENSP00000442403:A217T;ENSP00000401086:A181T;ENSP00000367459:A226T;ENSP00000437656:A226T	ENSP00000367459:A226T	A	-	1	0	KIAA0319	24704205	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.115000	0.10741	-0.246000	0.09611	-1.077000	0.02231	GCC		0.562	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		33	8	0	0	0	1	0	33	8				
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(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	GRCh37	CM941329	TP53	M		c.(586-588)Cga>Tga	Other conserved DNA damage response genes	tumor protein p53							102.0	91.0	94.0					17																	7578263		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578263G>A	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	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)				TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*	p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	196		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.586C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	5	0	0	0	1	0	28	5				
SCD5	79966	broad.mit.edu	37	4	83557824	83557824	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:83557824G>A	ENST00000319540.4	-	4	1041	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	241					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CATGTGGGCGGCGCTGTTGAC	0.562																																						ENST00000319540.4																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13						c.(721-723)gCc>gTc		stearoyl-CoA desaturase 5							132.0	114.0	120.0					4																	83557824		2203	4300	6503	SO:0001583	missense	79966				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr4:83557824G>A	AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.722C>T	4.37:g.83557824G>A	ENSP00000316329:p.Ala241Val						p.A241V	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN			4	1041	-		Colorectal(4;0.0323)|Hepatocellular(203;0.115)	241					B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	c.722C>T	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128336	0.56721	.	.	ENSG00000145284	ENST00000319540	T	0.18338	2.22	5.08	3.25	0.37280	Fatty acid desaturase, type 1 (1);	0.148693	0.64402	N	0.000011	T	0.22898	0.0553	M	0.73372	2.23	0.80722	D	1	B	0.21381	0.055	B	0.32090	0.14	T	0.03112	-1.1071	10	0.39692	T	0.17	-6.526	11.1724	0.48579	0.1552:0.0:0.8448:0.0	.	241	Q86SK9	SCD5_HUMAN	V	241	ENSP00000316329:A241V	ENSP00000316329:A241V	A	-	2	0	SCD5	83776848	1.000000	0.71417	0.380000	0.26093	0.910000	0.53928	5.940000	0.70187	0.754000	0.32968	0.655000	0.94253	GCC		0.562	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906		23	55	0	0	0	1	0	23	55				
OR4C6	219432	broad.mit.edu	37	11	55433471	55433471	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:55433471A>G	ENST00000314259.3	+	1	858	c.829A>G	c.(829-831)Aca>Gca	p.T277A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAATCATCACACCCATGTT	0.453																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(829-831)Aca>Gca		olfactory receptor, family 4, subfamily C, member 6							94.0	92.0	93.0					11																	55433471		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433471A>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.829A>G	11.37:g.55433471A>G	ENSP00000324769:p.Thr277Ala						p.T277A	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	858	+			277					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.829A>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	10.26	1.300413	0.23650	.	.	ENSG00000181903	ENST00000314259	T	0.37752	1.18	4.0	-3.83	0.04269	GPCR, rhodopsin-like superfamily (1);	0.856054	0.09698	N	0.767401	T	0.31327	0.0793	M	0.73430	2.235	0.09310	N	1	B	0.12630	0.006	B	0.20577	0.03	T	0.44221	-0.9342	10	0.54805	T	0.06	.	2.2777	0.04106	0.3835:0.1292:0.3607:0.1266	.	277	Q8NH72	OR4C6_HUMAN	A	277	ENSP00000324769:T277A	ENSP00000324769:T277A	T	+	1	0	OR4C6	55190047	0.000000	0.05858	0.001000	0.08648	0.841000	0.47740	-0.939000	0.03933	-0.704000	0.05042	0.433000	0.28618	ACA		0.453	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		20	32	0	0	0	1	0	20	32				
TIMP1	7076	broad.mit.edu	37	X	47442890	47442890	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:47442890T>A	ENST00000218388.4	+	2	246	c.76T>A	c.(76-78)Tgt>Agt	p.C26S	SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377018.2_De_novo_Start_InFrame|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000340666.4_Intron	NM_003254.2	NP_003245.1	P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	26	Involved in metalloproteinase-binding.|NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				aging (GO:0007568)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of trophoblast cell migration (GO:1901164)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell proliferation (GO:0008284)|regulation of integrin-mediated signaling pathway (GO:2001044)|response to cytokine (GO:0034097)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	cytokine activity (GO:0005125)|metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|large_intestine(2)	3						GGCCTGCACCTGTGTCCCACC	0.622																																						ENST00000377018.2																			0				endometrium(1)|large_intestine(2)	3								TIMP metallopeptidase inhibitor 1							112.0	93.0	100.0					X																	47442890		2203	4300	6503	SO:0001583	missense	7076				erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding	g.chrX:47442890T>A		CCDS14281.1	Xp11.3-p11.23	2008-07-29	2005-08-08		ENSG00000102265	ENSG00000102265			11820	protein-coding gene	gene with protein product		305370	"""tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor)"""	TIMP, CLGI			Standard	XM_005272645		Approved	EPO	uc004dif.3	P01033	OTTHUMG00000021447	ENST00000218388.4:c.76T>A	X.37:g.47442890T>A	ENSP00000218388:p.Cys26Ser					TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000295987.7_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.C26S|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S				P01033	TIMP1_HUMAN			0	222	+								Q14252|Q9UCU1	Translation_Start_Site	SNP	ENST00000218388.4	37		CCDS14281.1	.	.	.	.	.	.	.	.	.	.	-	16.69	3.192397	0.58017	.	.	ENSG00000102265	ENST00000218388;ENST00000456754;ENST00000441738	D;D;D	0.99914	-7.98;-7.98;-7.98	3.29	3.29	0.37713	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);	0.000000	0.48767	D	0.000162	D	0.99910	0.9957	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96306	0.9225	10	0.59425	D	0.04	.	9.2196	0.37368	0.0:0.0:0.0:1.0	.	26	P01033	TIMP1_HUMAN	S	26;26;38	ENSP00000218388:C26S;ENSP00000406671:C26S;ENSP00000405380:C38S	ENSP00000218388:C26S	C	+	1	0	TIMP1	47327834	1.000000	0.71417	0.966000	0.40874	0.315000	0.28087	5.222000	0.65277	1.529000	0.49120	0.433000	0.28618	TGT		0.622	TIMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056423.1	NM_003254		21	37	0	0	0	1	0	21	37				
ZNF578	147660	broad.mit.edu	37	19	53007987	53007987	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:53007987T>C	ENST00000421239.2	+	5	387	c.143T>C	c.(142-144)tTg>tCg	p.L48S		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	48	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CAGAGGGCTTTGTACAGGGAA	0.488																																						ENST00000421239.2																			0											c.(142-144)tTg>tCg		zinc finger protein 578							113.0	122.0	119.0					19																	53007987		2203	4300	6503	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53007987T>C	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.143T>C	19.37:g.53007987T>C	ENSP00000459216:p.Leu48Ser						p.L48S	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	5	387	+			0					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.143T>C	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	7.367	0.625945	0.14257	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.35	1.35	0.21983	.	.	.	.	.	T	0.79076	0.4385	H	0.99894	4.905	0.09310	N	0.999999	D	0.58620	0.983	P	0.54759	0.76	T	0.69191	-0.5210	7	.	.	.	.	6.123	0.20164	0.0:0.0:0.0:1.0	.	48	G3V4F6	.	S	48	.	.	L	+	2	0	ZNF578	57699799	0.007000	0.16637	0.152000	0.22495	0.071000	0.16799	1.573000	0.36472	0.611000	0.30052	0.254000	0.18369	TTG		0.488	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		65	29	0	0	0	1	0	65	29				
MSI1	4440	broad.mit.edu	37	12	120791134	120791134	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:120791134C>A	ENST00000257552.2	-	10	789	c.701G>T	c.(700-702)gGc>gTc	p.G234V	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	234					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGCGAGGCCTGTATAACT	0.612																																						ENST00000257552.2																			0				breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19						c.(700-702)gGc>gTc		musashi RNA-binding protein 1							134.0	129.0	131.0					12																	120791134		2203	4300	6503	SO:0001583	missense	4440				nervous system development	cytoplasm|nucleus	nucleotide binding	g.chr12:120791134C>A	AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.701G>T	12.37:g.120791134C>A	ENSP00000257552:p.Gly234Val					MSI1_ENST00000546622.1_5'UTR	p.G234V	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN			10	789	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		234					Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	ENST00000257552.2	37	c.701G>T	CCDS9196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.641290|4.641290	0.87859|0.87859	.|.	.|.	ENSG00000135097|ENSG00000135097	ENST00000546985|ENST00000257552	.|T	.|0.32023	.|1.47	4.77|4.77	4.77|4.77	0.60923|0.60923	.|.	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.54464|0.54464	0.1860|0.1860	M|M	0.73217|0.73217	2.22|2.22	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.64687	.|0.928	T|T	0.60989|0.60989	-0.7153|-0.7153	5|10	.|0.87932	.|D	.|0	.|.	17.8017|17.8017	0.88589|0.88589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|234	.|O43347	.|MSI1H_HUMAN	S|V	166|234	.|ENSP00000257552:G234V	.|ENSP00000257552:G234V	A|G	-|-	1|2	0|0	MSI1|MSI1	119275517|119275517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	7.276000|7.276000	0.78559|0.78559	2.166000|2.166000	0.68216|0.68216	0.455000|0.455000	0.32223|0.32223	GCC|GGC		0.612	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403629.1	NM_002442		35	49	1	0	2.51541e-25	1	2.95561e-25	35	49				
CDCP1	64866	broad.mit.edu	37	3	45160021	45160021	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:45160021C>G	ENST00000296129.1	-	2	309	c.175G>C	c.(175-177)Gtc>Ctc	p.V59L	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428																																						ENST00000296129.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(175-177)Gtc>Ctc		CUB domain containing protein 1							115.0	116.0	116.0					3																	45160021		2203	4300	6503	SO:0001583	missense	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45160021C>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.175G>C	3.37:g.45160021C>G	ENSP00000296129:p.Val59Leu					CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L|CDCP1_ENST00000490471.1_5'UTR	p.V59L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	2	309	-			59					Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	37	c.175G>C	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	C	9.459	1.092646	0.20471	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.43688	1.94;0.94	5.33	-10.7	0.00240	.	2.796970	0.00763	N	0.001153	T	0.23649	0.0572	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.11842	-1.0571	10	0.11794	T	0.64	.	4.39	0.11335	0.1527:0.3987:0.2992:0.1493	.	59;59	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	L	59	ENSP00000296129:V59L;ENSP00000399342:V59L	ENSP00000296129:V59L	V	-	1	0	CDCP1	45135025	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.742000	0.00191	-2.549000	0.00480	-1.036000	0.02392	GTC		0.428	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		23	40	0	0	0	1	0	23	40				
USP34	9736	broad.mit.edu	37	2	61577498	61577498	+	Silent	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:61577498A>G	ENST00000398571.2	-	12	1480	c.1404T>C	c.(1402-1404)atT>atC	p.I468I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	468					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACAGTGCTTTAATTAACATGG	0.333																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(1402-1404)atT>atC		ubiquitin specific peptidase 34							96.0	89.0	91.0					2																	61577498		1834	4085	5919	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61577498A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1404T>C	2.37:g.61577498A>G							p.I468I	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		12	1480	-			468					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.1404T>C	CCDS42686.1																																																																																				0.333	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			3	48	0	0	0	1	0	3	48				
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013807	33013807	+	RNA	SNP	G	G	T			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:33013807G>T	ENST00000567619.1	-	0	499																											GGTGCAGCTGGTGCAGTCTGG	0.592																																						ENST00000567619.1																			0																																																			0							g.chr16:33013807G>T																													16.37:g.33013807G>T														0	499	-									RNA	SNP	ENST00000567619.1	37																																																																																						0.592	RP11-19N8.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432089.1			9	50	1	0	3.07112e-06	1	3.52055e-06	9	50				
GPR97	222487	broad.mit.edu	37	16	57722359	57722359	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:57722359G>A	ENST00000333493.4	+	12	1797	c.1636G>A	c.(1636-1638)Gca>Aca	p.A546T	GPR97_ENST00000450388.3_Missense_Mutation_p.A426T|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	546					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCACTCCGCATCTcaaga	0.552																																						ENST00000333493.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1636-1638)Gca>Aca		G protein-coupled receptor 97							131.0	118.0	123.0					16																	57722359		2198	4300	6498	SO:0001583	missense	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57722359G>A	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1636G>A	16.37:g.57722359G>A	ENSP00000332900:p.Ala546Thr					GPR97_ENST00000327655.6_Intron|GPR97_ENST00000450388.3_Missense_Mutation_p.A426T|RP11-405F3.4_ENST00000563062.1_RNA	p.A546T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN			12	1797	+			546					Q6ZMF4|Q86SL9|Q8IZF1	Missense_Mutation	SNP	ENST00000333493.4	37	c.1636G>A	CCDS10786.1	.	.	.	.	.	.	.	.	.	.	G	8.952	0.968341	0.18659	.	.	ENSG00000182885	ENST00000333493;ENST00000450388	T;T	0.28895	1.59;1.61	5.53	-5.82	0.02333	.	.	.	.	.	T	0.10551	0.0258	N	0.04508	-0.205	0.09310	N	1	B	0.25312	0.123	B	0.12837	0.008	T	0.31503	-0.9941	9	0.21540	T	0.41	.	7.6282	0.28224	0.5974:0.0:0.2772:0.1254	.	546	Q86Y34	GPR97_HUMAN	T	546;426	ENSP00000332900:A546T;ENSP00000404803:A426T	ENSP00000332900:A546T	A	+	1	0	GPR97	56279860	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.872000	0.04219	-1.213000	0.02617	-0.367000	0.07326	GCA		0.552	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2	NM_170776		27	32	0	0	0	1	0	27	32				
MST1L	11223	broad.mit.edu	37	1	17083787	17083787	+	RNA	SNP	G	G	A	rs201551314	byFrequency	TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr1:17083787G>A	ENST00000455405.2	-	0	801							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCGTGAAGACGGCTGGCCAGC	0.552																																						ENST00000455405.2																			0																																																			0							g.chr1:17083787G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083787G>A														0	801	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.552	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		3	16	0	0	0	1	0	3	16				
SLC5A10	125206	broad.mit.edu	37	17	18872700	18872700	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:18872700T>C	ENST00000395645.3	+	7	623	c.605T>C	c.(604-606)aTc>aCc	p.I202T	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395647.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	202					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGACGCTCATCATGGTGGTG	0.637																																						ENST00000395647.2																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						c.(604-606)aTc>aCc		solute carrier family 5 (sodium/sugar cotransporter), member 10							56.0	64.0	62.0					17																	18872700		2165	4276	6441	SO:0001583	missense	125206				sodium ion transport|transmembrane transport	integral to membrane	transporter activity	g.chr17:18872700T>C		CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.605T>C	17.37:g.18872700T>C	ENSP00000379007:p.Ile202Thr					SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Missense_Mutation_p.I202T|FAM83G_ENST00000388995.6_3'UTR	p.I202T	NM_152351.3	NP_689564.3	A0PJK1	SC5AA_HUMAN			7	646	+			202					A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	c.605T>C	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.427568	0.83667	.	.	ENSG00000154025	ENST00000395647;ENST00000417251;ENST00000395645	D;D;D	0.89681	-2.55;-2.55;-2.55	4.94	4.94	0.65067	.	0.180867	0.34314	U	0.004079	D	0.94876	0.8344	H	0.94462	3.54	0.80722	D	1	D;D;P	0.53885	0.963;0.963;0.954	P;P;P	0.56216	0.794;0.794;0.786	D	0.96174	0.9125	10	0.87932	D	0	.	14.5635	0.68156	0.0:0.0:0.0:1.0	.	202;202;202	B4DPI0;A0PJK1;A0PJK1-4	.;SC5AA_HUMAN;.	T	202	ENSP00000379008:I202T;ENSP00000401875:I202T;ENSP00000379007:I202T	ENSP00000379007:I202T	I	+	2	0	SLC5A10	18813425	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.926000	0.63433	1.998000	0.58463	0.459000	0.35465	ATC		0.637	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351		27	42	0	0	0	1	0	27	42				
TMTC3	160418	broad.mit.edu	37	12	88566414	88566414	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:88566414A>G	ENST00000266712.6	+	8	1311	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	364					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCTGCATCGAACCTTTTTTTT	0.308																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1090-1092)aAc>aGc		transmembrane and tetratricopeptide repeat containing 3							135.0	127.0	130.0					12																	88566414		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88566414A>G		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1091A>G	12.37:g.88566414A>G	ENSP00000266712:p.Asn364Ser						p.N364S	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1311	+			364					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1091A>G	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.627275	0.87560	.	.	ENSG00000139324	ENST00000266712	T	0.65916	-0.18	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85097	0.5619	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89143	0.3518	10	0.56958	D	0.05	-14.6343	15.6784	0.77349	1.0:0.0:0.0:0.0	.	364	Q6ZXV5-2	.	S	364	ENSP00000266712:N364S	ENSP00000266712:N364S	N	+	2	0	TMTC3	87090545	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	9.339000	0.96797	2.090000	0.63153	0.528000	0.53228	AAC		0.308	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		30	43	0	0	0	1	0	30	43				
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			4	6						4	6	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150816	65150817	+	RNA	INS	-	-	C	rs376935907		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:65150816_65150817insC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TTCATCCCTCACCCCCCCCCCC	0.465																																						ENST00000430126.2																			0																																																			0							g.chr7:65150816_65150817insC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150827_65150827dupC														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.465	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		3	5						3	5	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60069953	60069957	+	Frame_Shift_Del	DEL	GTAGA	GTAGA	-	rs147040027		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr14:60069953_60069957delGTAGA	ENST00000267484.5	-	7	2537_2541	c.2202_2206delTCTAC	c.(2200-2208)actctacctfs	p.LP735fs	RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Frame_Shift_Del_p.LP167fs|RTN1_ENST00000395090.1_Frame_Shift_Del_p.LP152fs	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	735	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAACATTG	0.298																																						ENST00000267484.5																			1	Substitution - Missense(1)	p.P736S(1)	lung(1)	central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(2200-2208)acctfs		reticulon 1																																				SO:0001589	frameshift_variant	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60069953_60069957delGTAGA	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.2202_2206delTCTAC	14.37:g.60069953_60069957delGTAGA	ENSP00000267484:p.Leu735fs					RTN1_ENST00000395090.1_Frame_Shift_Del_p.TLP151fs|RTN1_ENST00000557422.1_5'UTR|RTN1_ENST00000342503.4_Frame_Shift_Del_p.TLP166fs	p.TLP734fs	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	7	2537_2541	-			734			Reticulon.		Q16800|Q16801|Q5BKZ4|Q9BQ59	Frame_Shift_Del	DEL	ENST00000267484.5	37	c.2202_2206delTCTAC	CCDS9740.1																																																																																				0.298	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			20	8						20	8	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085465	11085467	+	RNA	DEL	ACT	ACT	-	rs10446208|rs373147926		TCGA-TQ-A8XE-02A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82aa836-cace-4fe9-b49e-09b19a245b03	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr21:11085465_11085467delACT	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccactaccactaccaccacca	0.532																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085465_11085467delACT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085465_11085467delACT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.532	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		2	4						2	4	---	---	---	---
