#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
TACC2	10579	broad.mit.edu	37	10	123892231	123892231	+	Missense_Mutation	SNP	C	C	T	rs141016456	byFrequency	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr10:123892231C>T	ENST00000369005.1	+	6	6021	c.5681C>T	c.(5680-5682)aCg>aTg	p.T1894M	TACC2_ENST00000515273.1_Missense_Mutation_p.T1943M|TACC2_ENST00000515603.1_Missense_Mutation_p.T1894M|TACC2_ENST00000453444.2_Missense_Mutation_p.T1943M|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.T85M|TACC2_ENST00000493951.1_Intron|TACC2_ENST00000513429.1_Missense_Mutation_p.T85M|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.T1894M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1894					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGGTCTCTACGGATCTGATA	0.622																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(5680-5682)aCg>aTg		transforming, acidic coiled-coil containing protein 2		C	MET/THR,MET/THR	0,4406		0,0,2203	94.0	77.0	83.0		254,5681	-2.9	0.0	10	dbSNP_134	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TACC2	NM_206861.1,NM_206862.2	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	85/1095,1894/2949	123892231	1,13005	2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123892231C>T	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5681C>T	10.37:g.123892231C>T	ENSP00000358001:p.Thr1894Met					TACC2_ENST00000358010.1_Missense_Mutation_p.T85M|TACC2_ENST00000493951.1_Intron|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.T1894M|TACC2_ENST00000513429.1_Missense_Mutation_p.T85M|TACC2_ENST00000515603.1_Missense_Mutation_p.T1894M|TACC2_ENST00000515273.1_Missense_Mutation_p.T1943M|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.T1943M	p.T1894M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			6	6021	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	1894					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.5681C>T	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	9.747	1.166354	0.21621	0.0	1.16E-4	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076	T;T;T;T;T;T;T	0.53857	0.6;0.6;3.84;3.95;0.6;0.6;3.84	3.0	-2.92	0.05615	.	1.623700	0.04024	N	0.300239	T	0.43919	0.1269	N	0.24115	0.695	0.09310	N	1	D;D;P;D	0.61697	0.975;0.989;0.923;0.99	B;P;B;P	0.50754	0.374;0.649;0.188;0.474	T	0.38650	-0.9651	10	0.66056	D	0.02	0.7167	3.7786	0.08671	0.1528:0.2473:0.4914:0.1086	.	1943;1894;85;1894	E9PBC6;E7EMZ9;O95359-5;O95359	.;.;.;TACC2_HUMAN	M	1894;85;1943;1894;1894;85;1943;1884	ENSP00000358001:T1894M;ENSP00000425062:T85M;ENSP00000424467:T1943M;ENSP00000427618:T1894M;ENSP00000334280:T1894M;ENSP00000350701:T85M;ENSP00000395048:T1943M	ENSP00000334280:T1894M	T	+	2	0	TACC2	123882221	0.000000	0.05858	0.000000	0.03702	0.344000	0.29017	-0.455000	0.06762	-0.693000	0.05121	-0.305000	0.09177	ACG		0.622	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			12	46	0	0	0	1	0	12	46				
GABRG2	2566	broad.mit.edu	37	5	161580183	161580183	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:161580183G>A	ENST00000361925.4	+	9	1433	c.1213G>A	c.(1213-1215)Ggc>Agc	p.G405S	GABRG2_ENST00000393933.4_Missense_Mutation_p.G310S|GABRG2_ENST00000356592.3_Missense_Mutation_p.G413S|GABRG2_ENST00000414552.2_Missense_Mutation_p.G453S			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	405					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGAAGAGTACGGCTATGAGTG	0.483																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(1237-1239)Ggc>Agc		gamma-aminobutyric acid (GABA) A receptor, gamma 2							189.0	174.0	179.0					5																	161580183		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161580183G>A		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1213G>A	5.37:g.161580183G>A	ENSP00000354651:p.Gly405Ser					GABRG2_ENST00000361925.4_Missense_Mutation_p.G405S|GABRG2_ENST00000414552.2_Missense_Mutation_p.G453S|GABRG2_ENST00000393933.4_Missense_Mutation_p.G310S	p.G413S	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	10	1697	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	405					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.1237G>A	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.591883	0.46214	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	L	0.45581	1.43	0.80722	D	1	P;B;B	0.37997	0.614;0.178;0.147	B;B;B	0.35727	0.209;0.041;0.024	T	0.75016	-0.3466	10	0.15066	T	0.55	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	453;405;413	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	S	413;453;405;310	ENSP00000349000:G413S;ENSP00000410732:G453S;ENSP00000354651:G405S;ENSP00000377510:G310S	ENSP00000349000:G413S	G	+	1	0	GABRG2	161512761	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	6.648000	0.74359	2.824000	0.97209	0.655000	0.94253	GGC		0.483	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			21	88	0	0	0	1	0	21	88				
FAM219B	57184	broad.mit.edu	37	15	75197010	75197010	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr15:75197010C>T	ENST00000357635.5	-	4	744	c.424G>A	c.(424-426)Gca>Aca	p.A142T	FAM219B_ENST00000563706.1_5'UTR|FAM219B_ENST00000563119.1_Missense_Mutation_p.A142T|FAM219B_ENST00000565772.1_Missense_Mutation_p.A56T	NM_020447.3	NP_065180.1	Q5XKK7	F219B_HUMAN	family with sequence similarity 219, member B	142																	CTTGCCTCTGCAGATGAATAC	0.552																																						ENST00000357635.5																			0											c.(424-426)Gca>Aca		family with sequence similarity 219, member B							172.0	164.0	167.0					15																	75197010		2197	4295	6492	SO:0001583	missense	57184						cytochrome-c oxidase activity	g.chr15:75197010C>T	AK000005	CCDS32295.1	15q23	2012-03-06	2012-03-06	2012-03-06	ENSG00000178761	ENSG00000178761			24695	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 17"""	C15orf17		11214971	Standard	NM_020447		Approved	FLJ00005	uc002azh.4	Q5XKK7	OTTHUMG00000172715	ENST00000357635.5:c.424G>A	15.37:g.75197010C>T	ENSP00000350260:p.Ala142Thr					FAM219B_ENST00000563119.1_Missense_Mutation_p.A142T|FAM219B_ENST00000565772.1_Missense_Mutation_p.A56T|FAM219B_ENST00000563706.1_5'UTR	p.A142T	NM_020447.3	NP_065180.1	Q5XKK7	CO017_HUMAN			4	744	-			142					A8K4Q5|B4DK57|Q9NXY0	Missense_Mutation	SNP	ENST00000357635.5	37	c.424G>A	CCDS32295.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693196	0.88735	.	.	ENSG00000178761	ENST00000357635	.	.	.	5.53	3.58	0.41010	.	0.050605	0.85682	D	0.000000	T	0.69378	0.3104	M	0.71036	2.16	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.59546	0.859;0.859	T	0.71310	-0.4631	9	0.72032	D	0.01	-4.6367	11.6317	0.51178	0.1403:0.7248:0.1349:0.0	.	142;142	D3DW69;Q5XKK7	.;CO017_HUMAN	T	142	.	ENSP00000350260:A142T	A	-	1	0	C15orf17	72984063	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.462000	0.60121	0.649000	0.30751	0.549000	0.68633	GCA		0.552	FAM219B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420165.1	NM_020447		24	124	0	0	0	1	0	24	124				
SPTLC1	10558	broad.mit.edu	37	9	94809508	94809508	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr9:94809508G>A	ENST00000262554.2	-	11	1032	c.1027C>T	c.(1027-1029)Ccc>Tcc	p.P343S		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	343					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GCTAACAGGGGAGGTAACGAA	0.428																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(1027-1029)Ccc>Tcc		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						145.0	137.0	140.0					9																	94809508		2203	4300	6503	SO:0001583	missense	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94809508G>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1027C>T	9.37:g.94809508G>A	ENSP00000262554:p.Pro343Ser						p.P343S	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN			11	1032	-			343					A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	ENST00000262554.2	37	c.1027C>T	CCDS6692.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037230	0.93630	.	.	ENSG00000090054	ENST00000262554	D	0.96334	-3.98	5.25	5.25	0.73442	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	M	0.91768	3.24	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.70016	0.934;0.967	D	0.98925	1.0785	10	0.59425	D	0.04	-16.2932	19.0877	0.93212	0.0:0.0:1.0:0.0	.	343;343	Q6NUL7;O15269	.;SPTC1_HUMAN	S	343	ENSP00000262554:P343S	ENSP00000262554:P343S	P	-	1	0	SPTLC1	93849329	1.000000	0.71417	0.813000	0.32504	0.934000	0.57294	9.516000	0.98017	2.733000	0.93635	0.650000	0.86243	CCC		0.428	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		7	52	0	0	0	1	0	7	52				
FOXL1	2300	broad.mit.edu	37	16	86612494	86612494	+	Silent	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr16:86612494C>T	ENST00000320241.3	+	1	380	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	55					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ACAGCTACATCGCGCTCATCG	0.672																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(163-165)atC>atT		forkhead box L1							53.0	55.0	55.0					16																	86612494		2198	4300	6498	SO:0001819	synonymous_variant	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr16:86612494C>T	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.165C>T	16.37:g.86612494C>T							p.I55I	NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN			1	380	+			55					Q17RR1|Q9H242	Silent	SNP	ENST00000320241.3	37	c.165C>T	CCDS10959.1																																																																																				0.672	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		20	59	0	0	0	1	0	20	59				
IKZF1	10320	broad.mit.edu	37	7	50467748	50467748	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr7:50467748G>A	ENST00000331340.3	+	8	1138	c.983G>A	c.(982-984)cGc>cAc	p.R328H	IKZF1_ENST00000349824.4_Missense_Mutation_p.R185H|IKZF1_ENST00000438033.1_Missense_Mutation_p.R241H|IKZF1_ENST00000343574.5_Missense_Mutation_p.R241H|IKZF1_ENST00000346667.4_Missense_Mutation_p.R98H|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000359197.5_Missense_Mutation_p.R286H|IKZF1_ENST00000357364.4_Missense_Mutation_p.R241H|IKZF1_ENST00000439701.1_Missense_Mutation_p.R286H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	328					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAGTCCCTGCGCCCGCTGGTG	0.657			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		28	Unknown(28)	p.?(28)	haematopoietic_and_lymphoid_tissue(28)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(982-984)cGc>cAc		IKAROS family zinc finger 1 (Ikaros)							18.0	20.0	20.0					7																	50467748		2070	4229	6299	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50467748G>A	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.983G>A	7.37:g.50467748G>A	ENSP00000331614:p.Arg328His					IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.R185H|IKZF1_ENST00000357364.4_Missense_Mutation_p.R241H|IKZF1_ENST00000346667.4_Missense_Mutation_p.R98H|IKZF1_ENST00000343574.5_Missense_Mutation_p.R241H|IKZF1_ENST00000439701.1_Missense_Mutation_p.R286H|IKZF1_ENST00000359197.5_Missense_Mutation_p.R286H|IKZF1_ENST00000438033.1_Missense_Mutation_p.R241H	p.R328H	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			8	1138	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	328					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.983G>A		.	.	.	.	.	.	.	.	.	.	G	22.9	4.350650	0.82132	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701	T;T;T;T;T;T;T;T	0.08102	4.45;3.13;3.18;3.97;3.35;3.21;3.13;3.18	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.25865	0.0630	.	.	.	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.997;0.993;0.997	T	0.01413	-1.1361	9	0.19147	T	0.46	-22.584	19.3925	0.94590	0.0:0.0:1.0:0.0	.	241;98;241;286;328	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	H	98;241;286;185;241;328;241;286	ENSP00000340080:R98H;ENSP00000342750:R241H;ENSP00000352123:R286H;ENSP00000342485:R185H;ENSP00000349928:R241H;ENSP00000331614:R328H;ENSP00000396554:R241H;ENSP00000413025:R286H	ENSP00000331614:R328H	R	+	2	0	IKZF1	50435242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.789000	0.99068	2.591000	0.87537	0.650000	0.86243	CGC		0.657	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		4	10	0	0	0	1	0	4	10				
DIRC2	84925	broad.mit.edu	37	3	122545849	122545849	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr3:122545849C>T	ENST00000261038.5	+	3	1038	c.640C>T	c.(640-642)Ctt>Ttt	p.L214F		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	214					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GACATCACCTCTTCTTGCTGC	0.433																																						ENST00000261038.5																			0				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18						c.(640-642)Ctt>Ttt		disrupted in renal carcinoma 2							137.0	123.0	128.0					3																	122545849		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545849C>T	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.640C>T	3.37:g.122545849C>T	ENSP00000261038:p.Leu214Phe						p.L214F	NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	1038	+			214					A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.640C>T	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910168	0.33721	.	.	ENSG00000138463	ENST00000261038	D	0.92099	-2.97	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.369915	0.31404	N	0.007713	D	0.88800	0.6535	L	0.34521	1.04	0.33711	D	0.615771	B	0.11235	0.004	B	0.08055	0.003	D	0.87086	0.2169	10	0.52906	T	0.07	.	18.885	0.92372	0.0:1.0:0.0:0.0	.	214	Q96SL1	DIRC2_HUMAN	F	214	ENSP00000261038:L214F	ENSP00000261038:L214F	L	+	1	0	DIRC2	124028539	0.660000	0.27420	1.000000	0.80357	0.842000	0.47809	2.578000	0.46051	2.810000	0.96702	0.650000	0.86243	CTT		0.433	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		21	75	0	0	0	1	0	21	75				
GCLC	2729	broad.mit.edu	37	6	53385631	53385631	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr6:53385631C>T	ENST00000229416.6	-	3	874	c.391G>A	c.(391-393)Gct>Act	p.A131T	GCLC_ENST00000514004.1_Missense_Mutation_p.A131T	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	131					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	ATAGAAGTAGCCTCCTTCCGG	0.453																																						ENST00000229416.6																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(391-393)Gct>Act		glutamate-cysteine ligase, catalytic subunit	L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)						203.0	212.0	209.0					6																	53385631		2203	4300	6503	SO:0001583	missense	2729				anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding	g.chr6:53385631C>T	M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.391G>A	6.37:g.53385631C>T	ENSP00000229416:p.Ala131Thr					GCLC_ENST00000514004.1_Missense_Mutation_p.A131T	p.A131T	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN			3	874	-	Lung NSC(77;0.0137)		131					Q14399	Missense_Mutation	SNP	ENST00000229416.6	37	c.391G>A	CCDS4952.1	.	.	.	.	.	.	.	.	.	.	C	36	5.604273	0.96626	.	.	ENSG00000001084	ENST00000229416;ENST00000514004;ENST00000514933	T;T;T	0.74106	-0.79;-0.81;-0.79	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.72755	0.3500	M	0.83774	2.66	0.80722	D	1	P	0.46064	0.872	B	0.40285	0.325	T	0.78713	-0.2097	10	0.52906	T	0.07	.	19.3797	0.94527	0.0:1.0:0.0:0.0	.	131	P48506	GSH1_HUMAN	T	131;131;78	ENSP00000229416:A131T;ENSP00000421908:A131T;ENSP00000423615:A78T	ENSP00000229416:A131T	A	-	1	0	GCLC	53493590	1.000000	0.71417	0.919000	0.36401	0.965000	0.64279	7.776000	0.85560	2.660000	0.90430	0.655000	0.94253	GCT		0.453	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359710.2			37	183	0	0	0	1	0	37	183				
PCDHA6	56142	broad.mit.edu	37	5	140209500	140209500	+	Silent	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:140209500G>A	ENST00000529310.1	+	1	1938	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S608S(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.657																																						ENST00000529310.1																			2	Substitution - coding silent(2)	p.S608S(2)	endometrium(2)	NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1822-1824)tcG>tcA									81.0	82.0	82.0					5																	140209500		2203	4300	6503	SO:0001819	synonymous_variant	56142							g.chr5:140209500G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1824G>A	5.37:g.140209500G>A						PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.S608S	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1938	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1824G>A	CCDS47281.1																																																																																				0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		13	71	0	0	0	1	0	13	71				
RYR3	6263	broad.mit.edu	37	15	33905502	33905502	+	Silent	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr15:33905502C>T	ENST00000389232.4	+	19	2353	c.2283C>T	c.(2281-2283)ccC>ccT	p.P761P	RYR3_ENST00000415757.3_Silent_p.P761P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	761	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGGGCAGCCCGTGCAGGGGA	0.537																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(2281-2283)ccC>ccT		ryanodine receptor 3							49.0	53.0	52.0					15																	33905502		2130	4276	6406	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33905502C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2283C>T	15.37:g.33905502C>T						RYR3_ENST00000415757.3_Silent_p.P761P	p.P761P	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	19	2353	+		all_lung(180;7.18e-09)	761			B30.2/SPRY 1.		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.2283C>T	CCDS45210.1																																																																																				0.537	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	24	0	0	0	1	0	5	24				
RUFY1	80230	broad.mit.edu	37	5	179036470	179036470	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:179036470G>A	ENST00000319449.4	+	18	2089	c.2077G>A	c.(2077-2079)Gac>Aac	p.D693N	RUFY1_ENST00000393438.2_Missense_Mutation_p.D585N|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000508797.1_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.D585N	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	693					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGAGTGTGCGACAGCTGCCA	0.652										HNSCC(44;0.11)																												ENST00000319449.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26						c.(2077-2079)Gac>Aac		RUN and FYVE domain containing 1							45.0	34.0	38.0					5																	179036470		2203	4300	6503	SO:0001583	missense	80230				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding	g.chr5:179036470G>A	AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"""Zinc fingers, FYVE domain containing"""	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.2077G>A	5.37:g.179036470G>A	ENSP00000325594:p.Asp693Asn	HNSCC(44;0.11)				RUFY1_ENST00000393438.2_Missense_Mutation_p.D585N|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000508797.1_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.D585N	p.D693N	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2089	+	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	693					Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	ENST00000319449.4	37	c.2077G>A	CCDS4445.2	.	.	.	.	.	.	.	.	.	.	N	20.5	4.004080	0.74932	.	.	ENSG00000176783	ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	T;T;T	0.71698	-0.59;-0.59;-0.59	5.23	5.23	0.72850	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75539	-0.3282	10	0.30078	T	0.28	-29.7281	19.1551	0.93507	0.0:0.0:1.0:0.0	.	693	Q96T51	RUFY1_HUMAN	N	693;585;585;295	ENSP00000325594:D693N;ENSP00000390025:D585N;ENSP00000377087:D585N	ENSP00000325594:D693N	D	+	1	0	RUFY1	178969076	1.000000	0.71417	0.996000	0.52242	0.275000	0.26752	9.813000	0.99286	2.606000	0.88127	0.549000	0.68633	GAC		0.652	RUFY1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253505.2	NM_001040451		5	19	0	0	0	1	0	5	19				
GCSAML	148823	broad.mit.edu	37	1	247712493	247712493	+	5'UTR	SNP	G	G	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr1:247712493G>T	ENST00000366488.4	+	0	104				GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Missense_Mutation_p.R121I	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like																		ACTGTGAAAAGATGGGAAATT	0.488																																						ENST00000366490.3																			0											c.(361-363)aGa>aTa		germinal center-associated, signaling and motility-like							99.0	92.0	94.0					1																	247712493		2203	4300	6503	SO:0001623	5_prime_UTR_variant	148823							g.chr1:247712493G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.-1G>T	1.37:g.247712493G>T						GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000536561.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366489.1_5'UTR	p.R121I							4	520	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.362G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799481	0.50208	.	.	ENSG00000169224	ENST00000366490	.	.	.	3.41	1.37	0.22104	.	.	.	.	.	T	0.58609	0.2134	.	.	.	0.52501	D	0.99995	.	.	.	.	.	.	T	0.57648	-0.7775	5	0.87932	D	0	.	4.1453	0.10214	0.1436:0.2384:0.6179:0.0	.	.	.	.	I	121	.	ENSP00000355446:R121I	R	+	2	0	C1orf150	245779116	0.589000	0.26807	0.517000	0.27799	0.845000	0.48019	0.429000	0.21412	0.370000	0.24538	0.591000	0.81541	AGA		0.488	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		6	31	1	0	8.12818e-05	1	8.62992e-05	6	31				
MGAT3	4248	broad.mit.edu	37	22	39883837	39883837	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr22:39883837G>T	ENST00000341184.6	+	2	700	c.485G>T	c.(484-486)cGa>cTa	p.R162L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	162					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGGGGGCCGAGGCGCCCGG	0.766																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(484-486)cGa>cTa		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							4.0	6.0	5.0					22																	39883837		1924	3695	5619	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883837G>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.485G>T	22.37:g.39883837G>T	ENSP00000345270:p.Arg162Leu						p.R162L	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	700	+	Melanoma(58;0.04)		162					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.485G>T	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	9.483	1.098784	0.20552	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.0	3.91	0.45181	.	1.310610	0.05631	N	0.581652	T	0.38453	0.1041	N	0.22421	0.69	0.19300	N	0.999979	P	0.37781	0.608	B	0.39904	0.313	T	0.44452	-0.9327	9	0.48119	T	0.1	.	15.0199	0.71621	0.0:0.2336:0.7664:0.0	.	162	Q09327	MGAT3_HUMAN	L	162	.	ENSP00000345270:R162L	R	+	2	0	MGAT3	38213783	0.121000	0.22262	0.610000	0.28997	0.243000	0.25628	1.002000	0.29796	2.337000	0.79520	0.467000	0.42956	CGA		0.766	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		3	7	1	0	1	1	1	3	7				
DUSP1	1843	broad.mit.edu	37	5	172195950	172195950	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:172195950G>T	ENST00000239223.3	-	4	1161	c.919C>A	c.(919-921)Cag>Aag	p.Q307K	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	307	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GACTCAAACTGCAGCAGCTGG	0.587																																						ENST00000239223.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(919-921)Cag>Aag		dual specificity phosphatase 1							67.0	65.0	66.0					5																	172195950		2203	4300	6503	SO:0001583	missense	1843				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr5:172195950G>T	X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.919C>A	5.37:g.172195950G>T	ENSP00000239223:p.Gln307Lys					RP11-779O18.3_ENST00000523005.1_RNA	p.Q307K	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)	4	1161	-	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	307			Tyrosine-protein phosphatase.		D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	c.919C>A	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.279188	0.80692	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	D	0.85556	-2.0	4.91	4.91	0.64330	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.054080	0.85682	D	0.000000	D	0.89708	0.6793	L	0.45422	1.42	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	D;D	0.81914	0.995;0.991	D	0.90461	0.4446	10	0.56958	D	0.05	.	18.1045	0.89516	0.0:0.0:1.0:0.0	.	307;264	P28562;B4DNT2	DUS1_HUMAN;.	K	307;280;242	ENSP00000239223:Q307K	ENSP00000239223:Q307K	Q	-	1	0	DUSP1	172128556	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.245000	0.73994	0.655000	0.94253	CAG		0.587	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		14	44	1	0	4.3838e-07	1	4.83342e-07	14	44				
ASB4	51666	broad.mit.edu	37	7	95125141	95125141	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr7:95125141C>T	ENST00000325885.5	+	2	330	c.259C>T	c.(259-261)Cat>Tat	p.H87Y	ASB4_ENST00000257621.4_3'UTR|ASB4_ENST00000428113.1_Missense_Mutation_p.H87Y	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	87					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTGTTTGGCCATGTGGAATG	0.443																																						ENST00000325885.5																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20						c.(259-261)Cat>Tat		ankyrin repeat and SOCS box containing 4							128.0	103.0	112.0					7																	95125141		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95125141C>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.259C>T	7.37:g.95125141C>T	ENSP00000321388:p.His87Tyr					ASB4_ENST00000257621.4_3'UTR|ASB4_ENST00000428113.1_Missense_Mutation_p.H87Y	p.H87Y	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		2	330	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		87					A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.259C>T	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537570	0.45176	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.65916	-0.18;-0.18	5.35	5.35	0.76521	Ankyrin repeat-containing domain (3);	0.161253	0.53938	D	0.000042	T	0.61813	0.2377	N	0.08118	0	0.48571	D	0.999674	B;D	0.63880	0.232;0.993	B;D	0.62955	0.206;0.909	T	0.65886	-0.6059	10	0.36615	T	0.2	-0.2682	19.4503	0.94863	0.0:1.0:0.0:0.0	.	87;87	Q9Y574;Q14D68	ASB4_HUMAN;.	Y	87	ENSP00000321388:H87Y;ENSP00000397070:H87Y	ENSP00000321388:H87Y	H	+	1	0	ASB4	94963077	0.991000	0.36638	0.933000	0.37362	0.585000	0.36419	2.868000	0.48436	2.680000	0.91292	0.655000	0.94253	CAT		0.443	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		12	61	0	0	0	1	0	12	61				
GLDC	2731	broad.mit.edu	37	9	6620306	6620306	+	Silent	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr9:6620306G>A	ENST00000321612.6	-	3	498	c.348C>T	c.(346-348)atC>atT	p.I116I		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	116					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	GAGTTGCAAGGATTTCATTTT	0.388																																						ENST00000321612.6																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(346-348)atC>atT		glycine dehydrogenase (decarboxylating)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						106.0	103.0	104.0					9																	6620306		2203	4300	6503	SO:0001819	synonymous_variant	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6620306G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.348C>T	9.37:g.6620306G>A							p.I116I	NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	3	498	-		Acute lymphoblastic leukemia(23;0.161)	116					Q2M2F8	Silent	SNP	ENST00000321612.6	37	c.348C>T	CCDS34987.1																																																																																				0.388	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170		17	54	0	0	0	1	0	17	54				
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr9:21971186G>A	ENST00000304494.5	-	2	442	c.172C>T	c.(172-174)Cga>Tga	p.R58*	CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	58			R -> Q (in dbSNP:rs36204273).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1459	Whole gene deletion(1316)|Substitution - Nonsense(78)|Unknown(45)|Deletion - Frameshift(10)|Deletion - In frame(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Substitution - coding silent(1)|Complex - compound substitution(1)	p.0?(1315)|p.R58*(78)|p.?(45)|p.M53_R58del(3)|p.P113L(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*88(2)|p.0(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.P113fs*>61(1)|p.R58fs*62(1)|p.R58fs*61(1)|p.G55fs*86(1)|p.R58R(1)|p.A57fs*85(1)	haematopoietic_and_lymphoid_tissue(284)|skin(201)|central_nervous_system(167)|lung(154)|urinary_tract(94)|upper_aerodigestive_tract(78)|bone(74)|oesophagus(65)|soft_tissue(58)|pleura(51)|ovary(38)|pancreas(37)|kidney(32)|breast(32)|stomach(14)|thyroid(13)|NS(12)|biliary_tract(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|endometrium(3)|vulva(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM940227	CDKN2A	M	rs121913387	c.(172-174)Cga>Tga		cyclin-dependent kinase inhibitor 2A							7.0	9.0	8.0					9																	21971186		2034	4092	6126	SO:0001587	stop_gained	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971186G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.172C>T	9.37:g.21971186G>A	ENSP00000307101:p.Arg58*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000530628.2_Missense_Mutation_p.P72L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P72L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P113L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R7*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R58*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R7*	p.R58*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	442	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	58		R -> Q (in dbSNP:rs36204273).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.172C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893482|4.893482	0.91889|0.91889	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|.	0.75367|.	-0.93;-0.89|.	5.79|5.79	2.71|2.71	0.32032|0.32032	.|.	0.409080|.	0.18162|.	N|.	0.149742|.	T|.	0.29288|.	0.0729|.	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44006|.	0.824|.	B|.	0.33121|.	0.158|.	T|.	0.21381|.	-1.0247|.	10|.	0.72032|0.13470	D|T	0.01|0.59	-3.0019|-3.0019	9.6681|9.6681	0.39996|0.39996	0.0:0.1288:0.474:0.3972|0.0:0.1288:0.474:0.3972	.|.	113|.	Q8N726|.	CD2A2_HUMAN|.	L|X	113;72|58	ENSP00000355153:P113L;ENSP00000432664:P72L|.	ENSP00000355153:P113L|ENSP00000307101:R58X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961186|21961186	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.277000|0.277000	0.26821|0.26821	0.096000|0.096000	0.15147|0.15147	0.738000|0.738000	0.32606|0.32606	0.555000|0.555000	0.69702|0.69702	CCG|CGA		0.677	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		3	7	0	0	0	1	0	3	7				
PNPT1	87178	broad.mit.edu	37	2	55900087	55900087	+	Silent	SNP	G	G	C			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:55900087G>C	ENST00000447944.2	-	9	893	c.807C>G	c.(805-807)acC>acG	p.T269T		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	269					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGTCCTCTTGGTAACACCAG	0.373																																						ENST00000447944.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.(805-807)acC>acG		polyribonucleotide nucleotidyltransferase 1							157.0	161.0	159.0					2																	55900087		2203	4300	6503	SO:0001819	synonymous_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55900087G>C	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.807C>G	2.37:g.55900087G>C							p.T269T	NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		9	893	-			269					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Silent	SNP	ENST00000447944.2	37	c.807C>G	CCDS1856.1																																																																																				0.373	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		20	83	0	0	0	1	0	20	83				
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K|MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																						ENST00000215832.6																			1	Substitution - Missense(1)	p.E322K(1)	cervix(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(964-966)Gag>Aag		mitogen-activated protein kinase 1	Arsenic trioxide(DB01169)						165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr22:22127164C>T	M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys					MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	p.E322K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN		READ - Rectum adenocarcinoma(21;0.0689)	7	1152	-	Colorectal(54;0.105)	all_lung(157;3.89e-05)	322					A8CZ64	Missense_Mutation	SNP	ENST00000215832.6	37	c.964G>A	CCDS13795.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075396.2			57	44	0	0	0	1	0	57	44				
CYP2E1	1571	broad.mit.edu	37	10	135352412	135352412	+	Missense_Mutation	SNP	A	A	G			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr10:135352412A>G	ENST00000463117.2	+	11	1698	c.1426A>G	c.(1426-1428)Att>Gtt	p.I476V	CYP2E1_ENST00000252945.3_Missense_Mutation_p.I476V|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	476					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCCTATACATATTGGGTTTGG	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													ENST00000463117.2																			0				NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1426-1428)Att>Gtt		cytochrome P450, family 2, subfamily E, polypeptide 1	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)						162.0	132.0	142.0					10																	135352412		2203	4300	6503	SO:0001583	missense	1571	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding	g.chr10:135352412A>G	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1426A>G	10.37:g.135352412A>G	ENSP00000440689:p.Ile476Val					SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Missense_Mutation_p.I476V	p.I476V			P05181	CP2E1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	11	1698	+		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	476					Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	c.1426A>G	CCDS7686.1	.	.	.	.	.	.	.	.	.	.	A	5.954	0.360070	0.11296	.	.	ENSG00000130649	ENST00000463117;ENST00000252945	T;T	0.01246	5.11;5.11	5.1	-1.83	0.07833	.	0.254724	0.42548	N	0.000696	T	0.00608	0.0020	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47182	-0.9137	10	0.17369	T	0.5	.	6.0726	0.19897	0.5822:0.1271:0.2907:0.0	.	476	P05181	CP2E1_HUMAN	V	476	ENSP00000440689:I476V;ENSP00000252945:I476V	ENSP00000252945:I476V	I	+	1	0	CYP2E1	135202402	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	0.363000	0.20301	-0.375000	0.07955	0.459000	0.35465	ATT		0.473	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773		15	46	0	0	0	1	0	15	46				
CLEC1B	51266	broad.mit.edu	37	12	10149469	10149469	+	Silent	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr12:10149469C>T	ENST00000298527.6	-	4	593	c.414G>A	c.(412-414)ctG>ctA	p.L138L	CLEC1B_ENST00000428126.2_Silent_p.L105L|CLEC1B_ENST00000348658.4_Silent_p.L105L	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	138	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TGTCAATCTTCAGGAGAGTAG	0.398																																						ENST00000428126.2																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						c.(313-315)ctG>ctA		C-type lectin domain family 1, member B							167.0	149.0	154.0					12																	10149469		1880	4123	6003	SO:0001819	synonymous_variant	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10149469C>T	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.414G>A	12.37:g.10149469C>T						CLEC1B_ENST00000298527.6_Silent_p.L138L|CLEC1B_ENST00000348658.4_Silent_p.L105L	p.L105L			Q9P126	CLC1B_HUMAN			5	584	-			138					Q6UWX7|Q8NHR6	Silent	SNP	ENST00000298527.6	37	c.315G>A	CCDS41752.1																																																																																				0.398	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1	NM_016509		15	72	0	0	0	1	0	15	72				
LILRP2	79166	broad.mit.edu	37	19	55221935	55221935	+	RNA	SNP	G	G	A	rs45588833	byFrequency	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:55221935G>A	ENST00000413439.1	+	0	1462									leukocyte immunoglobulin-like receptor pseudogene 2																		CGGGCCCCACGGTGGCCTCAG	0.637													.|||	386	0.0770767	0.2035	0.0562	5008	,	,		17423	0.0079		0.0586	False		,,,				2504	0.0112				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			79166							g.chr19:55221935G>A	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221935G>A														0	1462	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.637	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		4	46	0	0	0	1	0	4	46				
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G	rs201049716		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr7:72413896A>G	ENST00000434423.2	+	11	3364	c.3364A>G	c.(3364-3366)Acc>Gcc	p.T1122A	POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000395270.1_Missense_Mutation_p.T857A			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637																																						ENST00000395270.1																			8	Substitution - Missense(8)	p.T857A(8)	lung(4)|kidney(4)	NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(2569-2571)Acc>Gcc		POM121 transmembrane nucleoporin							32.0	30.0	30.0					7																	72413896		2201	4299	6500	SO:0001583	missense	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413896A>G	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3364A>G	7.37:g.72413896A>G	ENSP00000405562:p.Thr1122Ala					POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A	p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN			14	3610	+		Lung NSC(55;0.163)	1122			Pore side (Potential).|Thr-rich.		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000434423.2	37	c.2569A>G		56	0.02564102564102564	11	0.022357723577235773	14	0.03867403314917127	19	0.033216783216783216	12	0.0158311345646438	G	2.480	-0.319876	0.05386	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.05649	3.46;3.41;3.46;3.41;3.71	2.86	-2.18	0.07037	.	0.720175	0.11383	N	0.569582	T	0.00724	0.0024	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42275	-0.9461	10	0.36615	T	0.2	.	4.8571	0.13564	0.1842:0.0:0.3666:0.4491	.	857;1122	A8MXF9;Q96HA1	.;P121A_HUMAN	A	857;857;857;857;1122	ENSP00000393020:T857A;ENSP00000257622:T857A;ENSP00000378687:T857A;ENSP00000351124:T857A;ENSP00000405562:T1122A	ENSP00000257622:T857A	T	+	1	0	POM121	72051832	0.360000	0.24964	0.406000	0.26421	0.004000	0.04260	0.000000	0.12993	-0.499000	0.06623	-2.511000	0.00188	ACC		0.637	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1			4	31	0	0	0	1	0	4	31				
ZNF800	168850	broad.mit.edu	37	7	127014574	127014574	+	Silent	SNP	T	T	C	rs146028755	byFrequency	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr7:127014574T>C	ENST00000393313.1	-	5	1407	c.816A>G	c.(814-816)caA>caG	p.Q272Q	ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000393312.1_Silent_p.Q272Q|ZNF800_ENST00000265827.3_Silent_p.Q272Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	272					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CTTTAGAGGATTGGTTTGGAT	0.373													T|||	7	0.00139776	0.0	0.0	5008	,	,		20998	0.0		0.001	False		,,,				2504	0.0061					ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(814-816)caA>caG		zinc finger protein 800		T		0,4406		0,0,2203	257.0	241.0	247.0		816	-5.1	0.1	7	dbSNP_134	247	21,8579	16.0+/-53.3	0,21,4279	no	coding-synonymous	ZNF800	NM_176814.3		0,21,6482	CC,CT,TT		0.2442,0.0,0.1615		272/665	127014574	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014574T>C	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.816A>G	7.37:g.127014574T>C						ZNF800_ENST00000393312.1_Silent_p.Q272Q|ZNF800_ENST00000265827.3_Silent_p.Q272Q	p.Q272Q			Q2TB10	ZN800_HUMAN			5	1407	-			272					Q9HBN0	Silent	SNP	ENST00000393313.1	37	c.816A>G	CCDS5795.1																																																																																				0.373	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		28	82	0	0	0	1	0	28	82				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.G245D	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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"""		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	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.chr17:7577547C>T	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.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp	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_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D	p.G245D	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)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	33	0	0	0	1	0	14	33				
INPP4A	3631	broad.mit.edu	37	2	99182508	99182508	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:99182508C>T	ENST00000523221.1	+	20	2311	c.2311C>T	c.(2311-2313)Cgg>Tgg	p.R771W	INPP4A_ENST00000409016.4_Missense_Mutation_p.R732W|INPP4A_ENST00000074304.5_Missense_Mutation_p.R771W|INPP4A_ENST00000409851.3_Missense_Mutation_p.R766W|INPP4A_ENST00000409463.1_Missense_Mutation_p.R100W|INPP4A_ENST00000545415.1_Missense_Mutation_p.R732W|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000409540.3_Missense_Mutation_p.R732W			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	771					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GTTTAACGTGCGGGTCCCTCT	0.657																																						ENST00000074304.5																			0				breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						c.(2311-2313)Cgg>Tgg		inositol polyphosphate-4-phosphatase, type I, 107kDa							19.0	21.0	20.0					2																	99182508		1966	4138	6104	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99182508C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2311C>T	2.37:g.99182508C>T	ENSP00000427722:p.Arg771Trp					INPP4A_ENST00000523221.1_Missense_Mutation_p.R771W|INPP4A_ENST00000409540.3_Missense_Mutation_p.R732W|INPP4A_ENST00000409463.1_Missense_Mutation_p.R100W|INPP4A_ENST00000409016.3_Missense_Mutation_p.R732W|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000545415.1_Missense_Mutation_p.R732W|INPP4A_ENST00000409851.3_Missense_Mutation_p.R766W	p.R771W	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN			22	2704	+			771					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.2311C>T	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570529	0.65765	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.44083	1.9;2.2;0.93;2.21;1.9;1.89;2.21	5.37	3.39	0.38822	.	0.057371	0.64402	D	0.000002	T	0.54111	0.1838	L	0.50333	1.59	0.58432	D	0.999994	D;D;D;D;D	0.89917	0.999;1.0;0.993;1.0;1.0	P;D;P;D;D	0.65010	0.862;0.923;0.827;0.931;0.931	T	0.56420	-0.7982	10	0.52906	T	0.07	-26.4622	12.8655	0.57937	0.3537:0.6463:0.0:0.0	.	732;732;100;771;766	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	W	732;766;100;771;732;732;771	ENSP00000386704:R732W;ENSP00000386777:R766W;ENSP00000386329:R100W;ENSP00000074304:R771W;ENSP00000442149:R732W;ENSP00000387294:R732W;ENSP00000427722:R771W	ENSP00000074304:R771W	R	+	1	2	INPP4A	98548940	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	2.582000	0.46085	1.461000	0.47929	0.650000	0.86243	CGG		0.657	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		3	12	0	0	0	1	0	3	12				
GCN1L1	10985	broad.mit.edu	37	12	120572126	120572126	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr12:120572126G>A	ENST00000300648.6	-	53	7298	c.7286C>T	c.(7285-7287)tCa>tTa	p.S2429L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2429					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCAGGAGTGAGACGATGTT	0.572																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(7285-7287)tCa>tTa		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							117.0	119.0	119.0					12																	120572126		2133	4237	6370	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120572126G>A	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7286C>T	12.37:g.120572126G>A	ENSP00000300648:p.Ser2429Leu						p.S2429L	NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN			53	7298	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		2429					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.7286C>T	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098948	0.76870	.	.	ENSG00000089154	ENST00000300648	T	0.34859	1.34	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.065414	0.64402	D	0.000015	T	0.35451	0.0932	L	0.45352	1.415	0.51767	D	0.999936	B	0.10296	0.003	B	0.08055	0.003	T	0.05903	-1.0857	10	0.37606	T	0.19	-9.2824	19.3918	0.94585	0.0:0.0:1.0:0.0	.	2429	Q92616	GCN1L_HUMAN	L	2429	ENSP00000300648:S2429L	ENSP00000300648:S2429L	S	-	2	0	GCN1L1	119056509	1.000000	0.71417	0.954000	0.39281	0.962000	0.63368	6.372000	0.73123	2.595000	0.87683	0.511000	0.50034	TCA		0.572	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			16	47	0	0	0	1	0	16	47				
C3orf56	285311	broad.mit.edu	37	3	126915914	126915914	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr3:126915914C>A	ENST00000398112.1	+	2	626	c.386C>A	c.(385-387)cCt>cAt	p.P129H		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	129										breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		AACCTATTTCCTTTCCCCATG	0.612																																						ENST00000398112.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)	9						c.(385-387)cCt>cAt		chromosome 3 open reading frame 56							138.0	148.0	145.0					3																	126915914		1897	4112	6009	SO:0001583	missense	285311							g.chr3:126915914C>A	AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.386C>A	3.37:g.126915914C>A	ENSP00000381182:p.Pro129His						p.P129H	NM_001007534.2	NP_001007535.1				GBM - Glioblastoma multiforme(114;0.142)	2	626	+								B2RNW5	Missense_Mutation	SNP	ENST00000398112.1	37	c.386C>A		.	.	.	.	.	.	.	.	.	.	C	7.437	0.639852	0.14386	.	.	ENSG00000214324	ENST00000398112	.	.	.	2.27	1.38	0.22167	.	.	.	.	.	T	0.55641	0.1933	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.73380	0.98	T	0.38628	-0.9652	7	0.87932	D	0	.	5.0326	0.14417	0.0:0.8244:0.0:0.1756	.	129	Q8N813	CC056_HUMAN	H	129	.	ENSP00000381182:P129H	P	+	2	0	C3orf56	128398604	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.064000	0.14437	0.510000	0.28216	0.585000	0.79938	CCT		0.612	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1			49	203	1	0	5.13769e-22	1	5.89121e-22	49	203				
DYNC1H1	1778	broad.mit.edu	37	14	102508997	102508997	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr14:102508997G>T	ENST00000360184.4	+	69	12589	c.12425G>T	c.(12424-12426)gGc>gTc	p.G4142V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4142	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCCGTGCGGGCCGCATCTTT	0.587																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(12424-12426)gGc>gTc		dynein, cytoplasmic 1, heavy chain 1							81.0	68.0	72.0					14																	102508997		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102508997G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12425G>T	14.37:g.102508997G>T	ENSP00000348965:p.Gly4142Val					RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	p.G4142V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			69	12589	+			4142			AAA 6 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.12425G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.649571	0.67358	.	.	ENSG00000197102	ENST00000360184	T	0.10192	2.9	6.07	6.07	0.98685	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.37073	0.0990	M	0.85299	2.745	0.80722	D	1	D	0.57257	0.979	P	0.58660	0.843	T	0.10474	-1.0628	10	0.72032	D	0.01	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	4142	Q14204	DYHC1_HUMAN	V	4142	ENSP00000348965:G4142V	ENSP00000348965:G4142V	G	+	2	0	DYNC1H1	101578750	1.000000	0.71417	0.194000	0.23346	0.010000	0.07245	9.776000	0.99001	2.884000	0.98904	0.655000	0.94253	GGC		0.587	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	34	1	0	0.000157383	1	0.000165061	8	34				
PCDHA11	56138	broad.mit.edu	37	5	140250305	140250305	+	Silent	SNP	G	G	A	rs544150374		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:140250305G>A	ENST00000398640.2	+	1	1617	c.1617G>A	c.(1615-1617)gcG>gcA	p.A539A	PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGATGCGGGCGTGCCGC	0.682													.|||	1	0.000199681	0.0	0.0	5008	,	,		16468	0.001		0.0	False		,,,				2504	0.0					ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1615-1617)gcG>gcA									72.0	79.0	77.0					5																	140250305		2202	4298	6500	SO:0001819	synonymous_variant	56138							g.chr5:140250305G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1617G>A	5.37:g.140250305G>A						PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	p.A539A	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1617	+								B2RN58|O75279	Silent	SNP	ENST00000398640.2	37	c.1617G>A	CCDS47284.1																																																																																				0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		20	119	0	0	0	1	0	20	119				
FAM47A	158724	broad.mit.edu	37	X	34150165	34150165	+	Missense_Mutation	SNP	T	T	G			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chrX:34150165T>G	ENST00000346193.3	-	1	282	c.231A>C	c.(229-231)ttA>ttC	p.L77F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	77										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTTTGGGGAGTAAAAACTCGT	0.537																																						ENST00000346193.3																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						c.(229-231)ttA>ttC		family with sequence similarity 47, member A							87.0	84.0	85.0					X																	34150165		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150165T>G	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.231A>C	X.37:g.34150165T>G	ENSP00000345029:p.Leu77Phe						p.L77F	NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN			1	282	-			77					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.231A>C	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	T	3.393	-0.123986	0.06795	.	.	ENSG00000185448	ENST00000346193	T	0.22539	1.95	1.1	-0.215	0.13157	.	.	.	.	.	T	0.11665	0.0284	L	0.28740	0.885	0.09310	N	1	B	0.27316	0.175	B	0.34722	0.188	T	0.38286	-0.9668	9	0.05620	T	0.96	.	2.912	0.05740	0.5759:0.0:0.0:0.4241	.	77	Q5JRC9	FA47A_HUMAN	F	77	ENSP00000345029:L77F	ENSP00000345029:L77F	L	-	3	2	FAM47A	34060086	0.007000	0.16637	0.005000	0.12908	0.005000	0.04900	-0.361000	0.07612	-0.121000	0.11787	-0.777000	0.03380	TTA		0.537	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		31	102	0	0	0	1	0	31	102				
HECW2	57520	broad.mit.edu	37	2	197183646	197183646	+	Silent	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:197183646C>T	ENST00000260983.3	-	9	2150	c.1968G>A	c.(1966-1968)gtG>gtA	p.V656V	HECW2_ENST00000409111.1_Silent_p.V300V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	656					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ACCGTGTGTCCACAGAGGACA	0.592																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1966-1968)gtG>gtA		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							89.0	72.0	77.0					2																	197183646		2203	4300	6503	SO:0001819	synonymous_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183646C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1968G>A	2.37:g.197183646C>T						HECW2_ENST00000409111.1_Silent_p.V300V	p.V656V	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	2150	-			656					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.1968G>A	CCDS33354.1																																																																																				0.592	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		5	35	0	0	0	1	0	5	35				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	20	0	0	0	1	0	4	20				
FLI1	2313	broad.mit.edu	37	11	128680494	128680494	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:128680494C>T	ENST00000527786.2	+	9	1459	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	FLI1_ENST00000281428.8_Missense_Mutation_p.R258W|FLI1_ENST00000525560.1_Missense_Mutation_p.R131W|FLI1_ENST00000344954.6_Missense_Mutation_p.R291W|FLI1_ENST00000534087.2_Missense_Mutation_p.R291W	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	324					blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CTGGGGCGAGCGGAAAAGCAA	0.552			T	EWSR1	Ewing sarcoma																																	ENST00000344954.6				Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2569)	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31						c.(871-873)Cgg>Tgg		Fli-1 proto-oncogene, ETS transcription factor							34.0	39.0	37.0					11																	128680494		2194	4296	6490	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128680494C>T	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.970C>T	11.37:g.128680494C>T	ENSP00000433488:p.Arg324Trp					FLI1_ENST00000534087.1_Missense_Mutation_p.R291W|FLI1_ENST00000281428.8_Missense_Mutation_p.R258W|FLI1_ENST00000429175.2_Missense_Mutation_p.R324W|FLI1_ENST00000525560.1_Missense_Mutation_p.R131W	p.R291W			Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	9	1259	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	324					B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.871C>T	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211034	0.58343	.	.	ENSG00000151702	ENST00000525560;ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.159758	0.47852	D	0.000213	T	0.63295	0.2499	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.74216	-0.3737	10	0.87932	D	0	.	13.2195	0.59879	0.2756:0.7244:0.0:0.0	.	324;131;258	Q01543;B4DFV4;Q01543-2	FLI1_HUMAN;.;.	W	131;291;324;291;258	ENSP00000437124:R131W;ENSP00000339627:R291W;ENSP00000399985:R324W;ENSP00000432950:R291W;ENSP00000281428:R258W	ENSP00000281428:R258W	R	+	1	2	FLI1	128185704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.996000	0.49449	2.703000	0.92315	0.650000	0.86243	CGG		0.552	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		9	14	0	0	0	1	0	9	14				
MOS	4342	broad.mit.edu	37	8	57025928	57025928	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr8:57025928G>A	ENST00000311923.1	-	1	613	c.614C>T	c.(613-615)gCg>gTg	p.A205V		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			CAAGATGTTCGCGGGCTTCAG	0.483																																					Esophageal Squamous(124;373 2870 4778)	ENST00000311923.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22						c.(613-615)gCg>gTg		v-mos Moloney murine sarcoma viral oncogene homolog							60.0	57.0	58.0					8																	57025928		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025928G>A		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.614C>T	8.37:g.57025928G>A	ENSP00000310722:p.Ala205Val						p.A205V	NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	613	-			205			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.614C>T	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761937	0.89932	.	.	ENSG00000172680	ENST00000311923	D	0.93953	-3.32	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96611	0.8894	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96573	0.9424	10	0.87932	D	0	.	20.0537	0.97638	0.0:0.0:1.0:0.0	.	205	P00540	MOS_HUMAN	V	205	ENSP00000310722:A205V	ENSP00000310722:A205V	A	-	2	0	MOS	57188482	1.000000	0.71417	0.179000	0.23059	0.989000	0.77384	7.876000	0.87215	2.758000	0.94735	0.561000	0.74099	GCG		0.483	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		17	32	0	0	0	1	0	17	32				
MYO1F	4542	broad.mit.edu	37	19	8615225	8615225	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:8615225G>A	ENST00000338257.8	-	10	1187	c.920C>T	c.(919-921)gCc>gTc	p.A307V	AC092316.1_ENST00000598703.1_RNA	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	307	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAGCAGGTAGGCGGGAAAGGC	0.607																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(919-921)gCc>gTc		myosin IF							17.0	19.0	19.0					19																	8615225		2022	4195	6217	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8615225G>A	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.920C>T	19.37:g.8615225G>A	ENSP00000344871:p.Ala307Val						p.A307V	NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN			10	1187	-			307			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.920C>T	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181025	0.94846	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.90955	-2.76	5.14	5.14	0.70334	Myosin head, motor domain (2);	0.129502	0.51477	D	0.000095	D	0.96682	0.8917	H	0.94964	3.605	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.72625	0.978;0.967	D	0.97833	1.0264	10	0.87932	D	0	.	17.5811	0.87968	0.0:0.0:1.0:0.0	.	307;307	B0I1T1;O00160	.;MYO1F_HUMAN	V	352;307	ENSP00000344871:A307V	ENSP00000304899:A352V	A	-	2	0	MYO1F	8521225	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.796000	0.99103	2.397000	0.81536	0.557000	0.71058	GCC		0.607	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			5	15	0	0	0	1	0	5	15				
OR5F1	338674	broad.mit.edu	37	11	55761533	55761533	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:55761533G>A	ENST00000278409.1	-	1	568	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	190					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GATTGTGTCAGAACAAGAGAG	0.453																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(568-570)tCt>tTt		olfactory receptor, family 5, subfamily F, member 1							92.0	86.0	88.0					11																	55761533		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761533G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.569C>T	11.37:g.55761533G>A	ENSP00000278409:p.Ser190Phe						p.S190F	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	568	-	Esophageal squamous(21;0.00448)		190					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.569C>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208769	0.22205	.	.	ENSG00000149133	ENST00000278409	T	0.00253	8.43	3.03	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	M	0.93808	3.46	0.24338	N	0.994977	B	0.27351	0.176	B	0.35413	0.202	T	0.14448	-1.0472	9	0.87932	D	0	.	10.4788	0.44680	0.0:0.2009:0.7991:0.0	.	190	O95221	OR5F1_HUMAN	F	190	ENSP00000278409:S190F	ENSP00000278409:S190F	S	-	2	0	OR5F1	55518109	0.000000	0.05858	0.559000	0.28332	0.573000	0.36030	-0.005000	0.12855	0.353000	0.24079	0.297000	0.19635	TCT		0.453	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		14	59	0	0	0	1	0	14	59				
MUC16	94025	broad.mit.edu	37	19	8976759	8976759	+	Nonsense_Mutation	SNP	C	C	A	rs552173997		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:8976759C>A	ENST00000397910.4	-	73	42510	c.42307G>T	c.(42307-42309)Gag>Tag	p.E14103*	MUC16_ENST00000380951.5_Nonsense_Mutation_p.E744*|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14134	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGACCCCCTCGGTGGAGTTG	0.557																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(42307-42309)Gag>Tag		mucin 16, cell surface associated							93.0	92.0	92.0					19																	8976759		1928	4124	6052	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8976759C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42307G>T	19.37:g.8976759C>A	ENSP00000381008:p.Glu14103*					MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Nonsense_Mutation_p.E744*	p.E14103*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			73	42510	-			14134	Missing (in Ref. 3; AAK74120).		SEA 14.		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.42307G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	28.3	4.912012	0.92178	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	.	.	.	4.37	-0.481	0.12082	.	0.224115	0.22643	N	0.057435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	4.0602	0.09834	0.0:0.5157:0.1721:0.3122	.	.	.	.	X	14103;744	.	ENSP00000370338:E744X	E	-	1	0	MUC16	8837759	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.080000	0.14802	-0.056000	0.13221	-0.370000	0.07254	GAG		0.557	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	23	1	0	1.49906e-05	1	1.61149e-05	15	23				
OR4D11	219986	broad.mit.edu	37	11	59271436	59271436	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:59271436C>G	ENST00000313253.1	+	1	388	c.388C>G	c.(388-390)Ctg>Gtg	p.L130V		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCCAAGCCCCTGCACTATGT	0.522																																						ENST00000313253.1																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(388-390)Ctg>Gtg		olfactory receptor, family 4, subfamily D, member 11							184.0	167.0	173.0					11																	59271436		2201	4295	6496	SO:0001583	missense	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271436C>G	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.388C>G	11.37:g.59271436C>G	ENSP00000320077:p.Leu130Val						p.L130V	NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN			1	388	+			130						Missense_Mutation	SNP	ENST00000313253.1	37	c.388C>G	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.763435	0.31228	.	.	ENSG00000176200	ENST00000313253	T	0.01484	4.84	5.44	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41097	D	0.000954	T	0.16257	0.0391	H	0.97465	4.01	0.36187	D	0.849803	D	0.71674	0.998	D	0.68765	0.96	T	0.32693	-0.9897	10	0.87932	D	0	-20.061	12.4181	0.55504	0.0:0.7893:0.0:0.2107	.	130	Q8NGI4	OR4DB_HUMAN	V	130	ENSP00000320077:L130V	ENSP00000320077:L130V	L	+	1	2	OR4D11	59028012	0.922000	0.31269	0.995000	0.50966	0.292000	0.27327	1.999000	0.40806	0.030000	0.15379	-1.151000	0.01829	CTG		0.522	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706		33	156	0	0	0	1	0	33	156				
PLXNA1	5361	broad.mit.edu	37	3	126710286	126710286	+	Silent	SNP	A	A	G			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr3:126710286A>G	ENST00000393409.2	+	2	1254	c.1254A>G	c.(1252-1254)acA>acG	p.T418T	PLXNA1_ENST00000251772.4_Silent_p.T395T	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	418	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGGGGGGCACAGTCACCATTG	0.652																																						ENST00000251772.4																			0				breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(1183-1185)acA>acG		plexin A1							53.0	46.0	48.0					3																	126710286		2203	4299	6502	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126710286A>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1254A>G	3.37:g.126710286A>G						PLXNA1_ENST00000393409.2_Silent_p.T418T	p.T395T			Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	2	1254	+			418			Sema.			Silent	SNP	ENST00000393409.2	37	c.1185A>G	CCDS33847.2																																																																																				0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		3	33	0	0	0	1	0	3	33				
STIM1	6786	broad.mit.edu	37	11	3988831	3988831	+	Silent	SNP	C	C	G			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:3988831C>G	ENST00000300737.4	+	2	758	c.189C>G	c.(187-189)ctC>ctG	p.L63L	STIM1_ENST00000527651.1_Silent_p.L63L	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	63	EF-hand.				activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		ATGAGAAACTCAGCTTCGAGG	0.488																																						ENST00000300737.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(187-189)ctC>ctG		stromal interaction molecule 1							209.0	181.0	191.0					11																	3988831		2201	4298	6499	SO:0001819	synonymous_variant	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:3988831C>G	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.189C>G	11.37:g.3988831C>G						STIM1_ENST00000527651.1_Silent_p.L63L	p.L63L	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	2	758	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	63			EF-hand.		E9PQJ4|Q8N382	Silent	SNP	ENST00000300737.4	37	c.189C>G	CCDS7749.1																																																																																				0.488	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156		20	68	0	0	0	1	0	20	68				
KIR3DL2	3812	broad.mit.edu	37	19	55378031	55378031	+	Missense_Mutation	SNP	G	G	A	rs189906225		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:55378031G>A	ENST00000326321.3	+	9	1246	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I|RNU6-222P_ENST00000362438.1_RNA	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2	405					cellular defense response (GO:0006968)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GGATCACTGCGTTTTCATACA	0.512													.|||	1	0.000199681	0.0008	0.0	5008	,	,		20610	0.0		0.0	False		,,,				2504	0.0					ENST00000326321.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(1213-1215)Gtt>Att		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2							278.0	266.0	270.0					19																	55378031		2203	4300	6503	SO:0001583	missense	3812				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55378031G>A	L41270	CCDS12906.1, CCDS58677.1	19q13.4	2014-05-22			ENSG00000240403	ENSG00000240403		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6339	protein-coding gene	gene with protein product		604947				7716543, 8662091	Standard	NM_006737		Approved	cl-5, nkat4, nkat4a, nkat4b, CD158K	uc002qho.4	P43630	OTTHUMG00000065935	ENST00000326321.3:c.1213G>A	19.37:g.55378031G>A	ENSP00000325525:p.Val405Ile					KIR3DL1_ENST00000402254.2_Missense_Mutation_p.V405I|KIR3DL2_ENST00000270442.5_Missense_Mutation_p.V388I	p.V405I	NM_006737.3	NP_006728.2	P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	9	1246	+			405					Q13238|Q14947|Q14948|Q92684|Q95366|Q95367|Q95368	Missense_Mutation	SNP	ENST00000326321.3	37	c.1213G>A	CCDS12906.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	6.075	0.382210	0.11524	.	.	ENSG00000167633;ENSG00000240403;ENSG00000240403	ENST00000402254;ENST00000326321;ENST00000270442	T;T;T	0.00470	7.23;7.22;7.2	1.41	-1.97	0.07503	.	.	.	.	.	T	0.00754	0.0025	L	0.51422	1.61	0.09310	N	1	B;D;D	0.65815	0.358;0.992;0.995	B;D;D	0.72338	0.153;0.949;0.977	T	0.49428	-0.8941	9	0.72032	D	0.01	.	4.4266	0.11505	0.5673:0.0:0.4327:0.0	.	388;405;405	Q95366;P43630;F6QF33	.;KI3L2_HUMAN;.	I	405;405;388	ENSP00000384528:V405I;ENSP00000325525:V405I;ENSP00000270442:V388I	ENSP00000384528:V405I	V	+	1	0	KIR3DL1;KIR3DL2	60069843	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.341000	0.07811	-0.745000	0.04772	-0.515000	0.04445	GTT		0.512	KIR3DL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000141241.1			76	246	0	0	0	1	0	76	246				
DIDO1	11083	broad.mit.edu	37	20	61512619	61512619	+	Silent	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr20:61512619C>T	ENST00000266070.4	-	16	5014	c.4689G>A	c.(4687-4689)gcG>gcA	p.A1563A	DIDO1_ENST00000395343.1_Silent_p.A1563A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1563					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCAGGCGCCTCGCCTGCCGGG	0.692																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4687-4689)gcG>gcA		death inducer-obliterator 1							18.0	24.0	22.0					20																	61512619		2122	4149	6271	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512619C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4689G>A	20.37:g.61512619C>T						DIDO1_ENST00000395343.1_Silent_p.A1563A	p.A1563A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5014	-	Breast(26;5.68e-08)		1563					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4689G>A	CCDS33506.1																																																																																				0.692	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		7	46	0	0	0	1	0	7	46				
AEBP1	165	broad.mit.edu	37	7	44152173	44152173	+	Missense_Mutation	SNP	G	G	A	rs138705367	byFrequency	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr7:44152173G>A	ENST00000223357.3	+	18	2539	c.2234G>A	c.(2233-2235)cGg>cAg	p.R745Q	AEBP1_ENST00000450684.2_Missense_Mutation_p.R320Q|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	745	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						ACGGAGGTCCGGGCCATCATT	0.622													G|||	5	0.000998403	0.0	0.0	5008	,	,		16291	0.001		0.0	False		,,,				2504	0.0041					ENST00000223357.3																			0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(2233-2235)cGg>cAg		AE binding protein 1							37.0	41.0	39.0					7																	44152173		2203	4299	6502	SO:0001583	missense	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44152173G>A	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2234G>A	7.37:g.44152173G>A	ENSP00000223357:p.Arg745Gln					AEBP1_ENST00000450684.2_Missense_Mutation_p.R320Q	p.R745Q	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN			18	2539	+			745			Interaction with PTEN (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	c.2234G>A	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354051	0.61293	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.12984	2.63;2.63	5.21	5.21	0.72293	Peptidase M14, carboxypeptidase A (2);	0.172328	0.45361	D	0.000372	T	0.22666	0.0547	L	0.36672	1.1	0.31336	N	0.684235	D;D	0.65815	0.993;0.995	P;P	0.59889	0.732;0.865	T	0.02813	-1.1107	10	0.56958	D	0.05	-34.1021	12.1023	0.53792	0.0842:0.0:0.9158:0.0	.	320;745	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	Q	745;320	ENSP00000223357:R745Q;ENSP00000398878:R320Q	ENSP00000223357:R745Q	R	+	2	0	AEBP1	44118698	0.043000	0.20138	1.000000	0.80357	0.367000	0.29736	1.823000	0.39062	2.602000	0.87976	0.591000	0.81541	CGG		0.622	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	NM_001129		10	29	0	0	0	1	0	10	29				
MEGF8	1954	broad.mit.edu	37	19	42839480	42839480	+	Silent	SNP	C	C	T	rs574819813		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:42839480C>T	ENST00000251268.6	+	5	771	c.771C>T	c.(769-771)ctC>ctT	p.L257L	MEGF8_ENST00000334370.4_Silent_p.L257L	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	257					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGGGTGACCTCGTCCTATACA	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17297	0.0		0.0	False		,,,				2504	0.0					ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(769-771)ctC>ctT		multiple EGF-like-domains 8							81.0	90.0	87.0					19																	42839480		2026	4184	6210	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42839480C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.771C>T	19.37:g.42839480C>T						MEGF8_ENST00000251268.6_Silent_p.L257L	p.L257L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			5	1406	+		Prostate(69;0.00682)	257					A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.771C>T																																																																																					0.612	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		8	56	0	0	0	1	0	8	56				
IMPG1	3617	broad.mit.edu	37	6	76751728	76751728	+	Silent	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr6:76751728G>A	ENST00000369950.3	-	2	372	c.183C>T	c.(181-183)ttC>ttT	p.F61F	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.F61F(1)|p.F61L(1)	lung(1)|endometrium(1)	breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(181-183)ttC>ttT		interphotoreceptor matrix proteoglycan 1							184.0	173.0	177.0					6																	76751728		2203	4300	6503	SO:0001819	synonymous_variant	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76751728G>A	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.183C>T	6.37:g.76751728G>A						IMPG1_ENST00000369963.3_Intron	p.F61F	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			2	372	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	61						Silent	SNP	ENST00000369950.3	37	c.183C>T	CCDS4985.1																																																																																				0.368	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		20	74	0	0	0	1	0	20	74				
RASSF2	9770	broad.mit.edu	37	20	4771164	4771164	+	Missense_Mutation	SNP	G	G	A	rs149919336	byFrequency	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr20:4771164G>A	ENST00000379400.3	-	7	665	c.470C>T	c.(469-471)aCg>aTg	p.T157M	RASSF2_ENST00000379376.2_Missense_Mutation_p.T157M|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	157					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GTCACTAGGCGTCCTCACATT	0.617													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17089	0.001		0.0	False		,,,				2504	0.0				Melanoma(158;1891 3343 50738)	ENST00000379400.3																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						c.(469-471)aCg>aTg		Ras association (RalGDS/AF-6) domain family member 2		G	MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	120.0	90.0	100.0		470,470	5.2	1.0	20	dbSNP_134	100	0,8600		0,0,4300	no	missense,missense	RASSF2	NM_014737.2,NM_170774.1	81,81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	157/327,157/327	4771164	1,13005	2203	4300	6503	SO:0001583	missense	9770				cell cycle|signal transduction	nucleus	protein binding	g.chr20:4771164G>A	D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.470C>T	20.37:g.4771164G>A	ENSP00000368710:p.Thr157Met					RASSF2_ENST00000379376.2_Missense_Mutation_p.T157M|RASSF2_ENST00000478553.1_5'UTR	p.T157M	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN			7	665	-			157					A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	c.470C>T	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708838	0.89018	2.27E-4	0.0	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.10288	2.89;2.89	5.2	5.2	0.72013	.	0.054126	0.85682	D	0.000000	T	0.19927	0.0479	M	0.76574	2.34	0.80722	D	1	D	0.61697	0.99	P	0.45276	0.475	T	0.01549	-1.1327	10	0.46703	T	0.11	.	17.4783	0.87667	0.0:0.0:1.0:0.0	.	157	P50749	RASF2_HUMAN	M	157	ENSP00000368710:T157M;ENSP00000368684:T157M	ENSP00000368684:T157M	T	-	2	0	RASSF2	4719164	1.000000	0.71417	0.961000	0.40146	0.942000	0.58702	9.330000	0.96422	2.706000	0.92434	0.563000	0.77884	ACG		0.617	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737		5	28	0	0	0	1	0	5	28				
CRB1	23418	broad.mit.edu	37	1	197390857	197390857	+	Missense_Mutation	SNP	G	G	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr1:197390857G>T	ENST00000367400.3	+	6	2034	c.1899G>T	c.(1897-1899)atG>atT	p.M633I	CRB1_ENST00000544212.1_Missense_Mutation_p.M114I|CRB1_ENST00000535699.1_Missense_Mutation_p.M564I|CRB1_ENST00000367397.1_Missense_Mutation_p.M14I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.M521I|CRB1_ENST00000538660.1_Missense_Mutation_p.M633I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	633	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TCTATAATATGCCATCCACAC	0.403																																						ENST00000367397.1																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(40-42)atG>atT		crumbs homolog 1 (Drosophila)							146.0	136.0	139.0					1																	197390857		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390857G>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1899G>T	1.37:g.197390857G>T	ENSP00000356370:p.Met633Ile					CRB1_ENST00000535699.1_Missense_Mutation_p.M564I|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000538660.1_Missense_Mutation_p.M633I|CRB1_ENST00000367399.2_Missense_Mutation_p.M521I|CRB1_ENST00000367400.3_Missense_Mutation_p.M633I|CRB1_ENST00000544212.1_Missense_Mutation_p.M114I	p.M14I			P82279	CRUM1_HUMAN			2	900	+			633					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.42G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.968321	0.00457	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T;D	0.85013	-1.17;-1.17;-1.17;-1.17;-1.17;-1.93	5.85	-6.64	0.01801	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.54498	0.1862	N	0.00760	-1.21	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.0;0.001	T	0.55418	-0.8144	9	0.10636	T	0.68	.	10.9474	0.47308	0.2224:0.2778:0.4998:0.0	.	633;564;521;282;633	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	I	564;633;633;521;114;14;282	ENSP00000438786:M564I;ENSP00000438091:M633I;ENSP00000356370:M633I;ENSP00000356369:M521I;ENSP00000444556:M114I;ENSP00000356367:M14I	ENSP00000356367:M14I	M	+	3	0	CRB1	195657480	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.272000	0.08560	-1.624000	0.01556	-1.103000	0.02113	ATG		0.403	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		21	118	1	0	1.28384e-07	1	1.4339e-07	21	118				
CTNNA2	1496	broad.mit.edu	37	2	80085218	80085218	+	Silent	SNP	G	G	A	rs372587283		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:80085218G>A	ENST00000402739.4	+	3	383	c.378G>A	c.(376-378)gcG>gcA	p.A126A	CTNNA2_ENST00000496558.1_Silent_p.A126A|CTNNA2_ENST00000541047.1_Silent_p.A126A|CTNNA2_ENST00000466387.1_Silent_p.A126A|CTNNA2_ENST00000540488.1_Silent_p.A126A|CTNNA2_ENST00000361291.4_Silent_p.A160A	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	126					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGTACGGGCGGCAAGGGCTT	0.552																																						ENST00000466387.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(376-378)gcG>gcA		catenin (cadherin-associated protein), alpha 2		G	,	0,4116		0,0,2058	86.0	84.0	85.0		378,378	-6.5	0.5	2		85	1,8383		0,1,4191	no	coding-synonymous,coding-synonymous	CTNNA2	NM_001164883.1,NM_004389.3	,	0,1,6249	AA,AG,GG		0.0119,0.0,0.0080	,	126/861,126/906	80085218	1,12499	2058	4192	6250	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085218G>A		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.378G>A	2.37:g.80085218G>A						CTNNA2_ENST00000402739.4_Silent_p.A126A|CTNNA2_ENST00000496558.1_Silent_p.A126A|CTNNA2_ENST00000541047.1_Silent_p.A126A|CTNNA2_ENST00000361291.4_Silent_p.A160A|CTNNA2_ENST00000540488.1_Silent_p.A126A	p.A126A			P26232	CTNA2_HUMAN			8	1102	+			126					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.378G>A																																																																																					0.552	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		19	69	0	0	0	1	0	19	69				
SLC26A2	1836	broad.mit.edu	37	5	149360594	149360594	+	Missense_Mutation	SNP	A	A	C			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:149360594A>C	ENST00000286298.4	+	3	1706	c.1438A>C	c.(1438-1440)Aaa>Caa	p.K480Q		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	480					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTCCCTTCAAAAAAGTGTCCT	0.423																																						ENST00000286298.4																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18						c.(1438-1440)Aaa>Caa		solute carrier family 26 (anion exchanger), member 2							94.0	93.0	93.0					5																	149360594		2203	4300	6503	SO:0001583	missense	1836					integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	g.chr5:149360594A>C	U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"""Solute carriers"""	10994	protein-coding gene	gene with protein product		606718	"""solute carrier family 26 (sulfate transporter), member 2"""	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.1438A>C	5.37:g.149360594A>C	ENSP00000286298:p.Lys480Gln						p.K480Q	NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		3	1706	+			480					A8K2U3|B2R6J1|Q6N051	Missense_Mutation	SNP	ENST00000286298.4	37	c.1438A>C	CCDS4300.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.648695	0.47258	.	.	ENSG00000155850	ENST00000286298	D	0.93366	-3.21	5.91	5.91	0.95273	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	M	0.65320	2	0.54753	D	0.999989	D	0.76494	0.999	D	0.81914	0.995	D	0.94520	0.7726	10	0.27785	T	0.31	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	480	P50443	S26A2_HUMAN	Q	480	ENSP00000286298:K480Q	ENSP00000286298:K480Q	K	+	1	0	SLC26A2	149340787	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.281000	0.95811	2.254000	0.74563	0.533000	0.62120	AAA		0.423	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252333.2	NM_000112		20	60	0	0	0	1	0	20	60				
MYBPC3	4607	broad.mit.edu	37	11	47354797	47354797	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:47354797C>A	ENST00000545968.1	-	30	3332	c.3278G>T	c.(3277-3279)gGc>gTc	p.G1093V	MYBPC3_ENST00000399249.2_Missense_Mutation_p.G1093V|MYBPC3_ENST00000256993.4_Missense_Mutation_p.G1092V	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1093	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		CTCCGTGTTGCCGACATCCTG	0.637																																						ENST00000399249.2																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42						c.(3277-3279)gGc>gTc		myosin binding protein C, cardiac							39.0	44.0	43.0					11																	47354797		1973	4151	6124	SO:0001583	missense	4607				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	g.chr11:47354797C>A	X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3278G>T	11.37:g.47354797C>A	ENSP00000442795:p.Gly1093Val					MYBPC3_ENST00000256993.4_Missense_Mutation_p.G1092V|MYBPC3_ENST00000545968.1_Missense_Mutation_p.G1093V	p.G1093V			Q14896	MYPC3_HUMAN		Lung(87;0.176)	29	3332	-			1092			Fibronectin type-III 3.		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	c.3278G>T	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470369	0.84533	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	D;D;D	0.90069	-2.61;-2.61;-2.61	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.97198	0.9084	H	0.99104	4.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99016	1.0816	9	0.87932	D	0	.	17.8422	0.88718	0.0:1.0:0.0:0.0	.	1092	Q14896	MYPC3_HUMAN	V	1093;1093;1092	ENSP00000442795:G1093V;ENSP00000382193:G1093V;ENSP00000256993:G1092V	ENSP00000256993:G1092V	G	-	2	0	MYBPC3	47311373	1.000000	0.71417	0.997000	0.53966	0.775000	0.43874	7.455000	0.80726	2.517000	0.84864	0.585000	0.79938	GGC		0.637	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3			3	2	1	0	0.115264	1	0.118008	3	2				
MED13L	23389	broad.mit.edu	37	12	116409989	116409989	+	Silent	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr12:116409989G>A	ENST00000281928.3	-	26	5990	c.5784C>T	c.(5782-5784)ctC>ctT	p.L1928L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1928						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACACATCCTTGAGCTTTTTGC	0.468																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5782-5784)ctC>ctT		mediator complex subunit 13-like							121.0	114.0	117.0					12																	116409989		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116409989G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5784C>T	12.37:g.116409989G>A							p.L1928L	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	26	5990	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1928					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.5784C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239207	0.22711	.	.	ENSG00000123066	ENST00000552447	.	.	.	4.76	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1219	0.30976	0.0:0.2628:0.5995:0.1377	.	.	.	.	X	133	.	.	Q	-	1	0	MED13L	114894372	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.849000	0.48286	2.631000	0.89168	0.563000	0.77884	CAA		0.468	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			26	42	0	0	0	1	0	26	42				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			96610							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	19	0	0	0	1	0	5	19				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	284802							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	30	0	0	0	1	0	4	30				
BCAN	63827	broad.mit.edu	37	1	156622478	156622478	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr1:156622478G>A	ENST00000329117.5	+	8	2072	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	BCAN_ENST00000361588.5_Missense_Mutation_p.R579Q|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	579					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGTCCCTCGAGGAGAGAGC	0.642																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1735-1737)cGa>cAa		brevican							57.0	60.0	59.0					1																	156622478		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156622478G>A	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1736G>A	1.37:g.156622478G>A	ENSP00000331210:p.Arg579Gln					RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R579Q	p.R579Q	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			8	2072	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		579					D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.1736G>A	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	13.67	2.306035	0.40795	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.13657	2.57;3.27	3.92	0.701	0.18104	.	0.615996	0.12995	N	0.422121	T	0.02230	0.0069	N	0.24115	0.695	0.26503	N	0.974744	B;B	0.24132	0.07;0.098	B;B	0.12837	0.003;0.008	T	0.44892	-0.9298	10	0.32370	T	0.25	-1.7595	5.2581	0.15558	0.4051:0.0:0.5949:0.0	.	579;579	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	Q	579	ENSP00000331210:R579Q;ENSP00000354925:R579Q	ENSP00000331210:R579Q	R	+	2	0	BCAN	154889102	0.599000	0.26891	1.000000	0.80357	0.975000	0.68041	0.460000	0.21924	0.336000	0.23639	0.455000	0.32223	CGA		0.642	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		8	34	0	0	0	1	0	8	34				
INTS10	55174	broad.mit.edu	37	8	19683950	19683950	+	Silent	SNP	G	G	T	rs538970166		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr8:19683950G>T	ENST00000397977.3	+	9	1418	c.1020G>T	c.(1018-1020)ccG>ccT	p.P340P		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	340					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CTAATGCCCCGAGCCAAGTTC	0.488																																						ENST00000397977.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20						c.(1018-1020)ccG>ccT		integrator complex subunit 10							123.0	117.0	119.0					8																	19683950		1922	4122	6044	SO:0001819	synonymous_variant	55174				snRNA processing	integrator complex	protein binding	g.chr8:19683950G>T	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.1020G>T	8.37:g.19683950G>T							p.P340P	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN		Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)	9	1418	+			340					Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Silent	SNP	ENST00000397977.3	37	c.1020G>T	CCDS6011.2	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360698	0.24598	.	.	ENSG00000104613	ENST00000523846	.	.	.	5.26	-10.5	0.00291	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45877	-0.9231	4	.	.	.	-5.0291	0.8889	0.01250	0.3499:0.2797:0.1879:0.1825	.	.	.	.	L	116	.	.	R	+	2	0	INTS10	19728230	0.032000	0.19561	0.938000	0.37757	0.984000	0.73092	-0.931000	0.03967	-1.059000	0.03193	-0.290000	0.09829	CGA		0.488	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142		33	57	1	0	5.91797e-21	1	6.69665e-21	33	57				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																653390							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		5	36	0	0	0	1	0	5	36				
SCML4	256380	broad.mit.edu	37	6	108068062	108068062	+	Silent	SNP	C	C	T	rs371827897		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr6:108068062C>T	ENST00000369020.3	-	4	563	c.318G>A	c.(316-318)gcG>gcA	p.A106A	SCML4_ENST00000369021.3_Silent_p.A77A|SCML4_ENST00000479803.1_5'Flank|SCML4_ENST00000369022.2_Silent_p.A48A	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GATAGGGCCCCGCATTGGCCT	0.642																																						ENST00000369022.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25						c.(142-144)gcG>gcA		sex comb on midleg-like 4 (Drosophila)		C		1,4405	2.1+/-5.4	0,1,2202	50.0	46.0	47.0		318	-8.7	0.2	6		47	0,8600		0,0,4300	no	coding-synonymous	SCML4	NM_198081.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		106/415	108068062	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108068062C>T		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.318G>A	6.37:g.108068062C>T						SCML4_ENST00000369021.3_Silent_p.A77A|SCML4_ENST00000369020.3_Silent_p.A106A	p.A48A			Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	3	353	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	106					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Silent	SNP	ENST00000369020.3	37	c.144G>A	CCDS5060.2																																																																																				0.642	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		10	60	0	0	0	1	0	10	60				
MPZL3	196264	broad.mit.edu	37	11	118104191	118104191	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr11:118104191C>T	ENST00000278949.4	-	5	720	c.665G>A	c.(664-666)cGt>cAt	p.R222H	MPZL3_ENST00000525386.1_Missense_Mutation_p.V41I|MPZL3_ENST00000527472.1_Missense_Mutation_p.R210H			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	222					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CTCAGCGCAACGGACACAAAG	0.493																																						ENST00000278949.4																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8						c.(664-666)cGt>cAt		myelin protein zero-like 3							215.0	144.0	168.0					11																	118104191		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118104191C>T	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.665G>A	11.37:g.118104191C>T	ENSP00000278949:p.Arg222His					MPZL3_ENST00000527472.1_Missense_Mutation_p.R210H|MPZL3_ENST00000525386.1_Missense_Mutation_p.V41I	p.R222H			Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	5	720	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	222					A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.665G>A	CCDS8392.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.04|10.04	1.242122|1.242122	0.22796|0.22796	.|.	.|.	ENSG00000160588|ENSG00000160588	ENST00000278949;ENST00000527472|ENST00000525386	D;D|.	0.96041|.	-3.7;-3.89|.	5.54|5.54	4.63|4.63	0.57726|0.57726	.|.	0.368056|.	0.28219|.	N|.	0.016146|.	T|T	0.52158|0.52158	0.1717|0.1717	L|L	0.32530|0.32530	0.975|0.975	0.40040|0.40040	D|D	0.975632|0.975632	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.50642|0.50642	-0.8804|-0.8804	10|6	0.25751|0.32370	T|T	0.34|0.25	.|.	10.2714|10.2714	0.43485|0.43485	0.0:0.9088:0.0:0.0912|0.0:0.9088:0.0:0.0912	.|.	210;222|.	B4E2I8;Q6UWV2|.	.;MPZL3_HUMAN|.	H|I	222;210|41	ENSP00000278949:R222H;ENSP00000432106:R210H|.	ENSP00000278949:R222H|ENSP00000434636:V41I	R|V	-|-	2|1	0|0	MPZL3|MPZL3	117609401|117609401	0.212000|0.212000	0.23540|0.23540	0.333000|0.333000	0.25482|0.25482	0.244000|0.244000	0.25665|0.25665	1.239000|1.239000	0.32719|0.32719	1.350000|1.350000	0.45770|0.45770	-0.339000|-0.339000	0.08088|0.08088	CGT|GTT		0.493	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		4	45	0	0	0	1	0	4	45				
CYP1B1	1545	broad.mit.edu	37	2	38298060	38298060	+	Missense_Mutation	SNP	C	C	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:38298060C>A	ENST00000260630.3	-	3	1838	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H	CYP1B1_ENST00000407341.1_Missense_Mutation_p.Q479H|CYP1B1_ENST00000494864.1_5'UTR	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	479					angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|blood vessel morphogenesis (GO:0048514)|cell adhesion (GO:0007155)|cellular aromatic compound metabolic process (GO:0006725)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to organic cyclic compound (GO:0071407)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell-cell adhesion (GO:0071603)|epoxygenase P450 pathway (GO:0019373)|estrogen metabolic process (GO:0008210)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|membrane lipid catabolic process (GO:0046466)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nitric oxide biosynthetic process (GO:0006809)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression involved in extracellular matrix organization (GO:1901313)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to toxic substance (GO:0009636)|retinal blood vessel morphogenesis (GO:0061304)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|toxin metabolic process (GO:0009404)|trabecular meshwork development (GO:0002930)|visual perception (GO:0007601)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Biotin(DB00121)|Caffeine(DB00201)|Clozapine(DB00363)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Flutamide(DB00499)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Melatonin(DB01065)|Mitoxantrone(DB01204)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Primaquine(DB01087)|Procarbazine(DB01168)|Progesterone(DB00396)|Propofol(DB00818)|Tamoxifen(DB00675)|Testosterone(DB00624)|Theophylline(DB00277)	AGAGAAAAAGCTGCATCTTAG	0.463																																						ENST00000260630.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13						c.(1435-1437)caG>caT		cytochrome P450, family 1, subfamily B, polypeptide 1	Estrone(DB00655)						73.0	75.0	74.0					2																	38298060		2203	4300	6503	SO:0001583	missense	1545				visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr2:38298060C>A	U56438	CCDS1793.1	2p22.2	2008-02-05	2003-01-14		ENSG00000138061	ENSG00000138061		"""Cytochrome P450s"""	2597	protein-coding gene	gene with protein product		601771	"""cytochrome P450, subfamily I (dioxin-inducible), polypeptide 1 (glaucoma 3, primary infantile)"""	GLC3A		8175734, 15128046	Standard	NM_000104		Approved	CP1B	uc002rqo.2	Q16678	OTTHUMG00000100970	ENST00000260630.3:c.1437G>T	2.37:g.38298060C>A	ENSP00000260630:p.Gln479His					CYP1B1_ENST00000494864.1_5'UTR|CYP1B1_ENST00000407341.1_Missense_Mutation_p.Q479H	p.Q479H	NM_000104.3	NP_000095.2	Q16678	CP1B1_HUMAN			3	1838	-		all_hematologic(82;0.21)	479					Q5TZW8|Q93089|Q9H316	Missense_Mutation	SNP	ENST00000260630.3	37	c.1437G>T	CCDS1793.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.714639	0.48622	.	.	ENSG00000138061	ENST00000260630;ENST00000407341	T;T	0.69561	-0.41;-0.41	5.95	4.11	0.48088	.	0.166035	0.56097	D	0.000040	T	0.63640	0.2528	M	0.69823	2.125	0.35502	D	0.799867	B	0.31459	0.324	B	0.31686	0.134	T	0.70029	-0.4984	10	0.87932	D	0	.	8.9343	0.35691	0.1534:0.7684:0.0:0.0781	.	479	Q53TK1	.	H	479	ENSP00000260630:Q479H;ENSP00000384972:Q479H	ENSP00000260630:Q479H	Q	-	3	2	CYP1B1	38151564	1.000000	0.71417	0.988000	0.46212	0.822000	0.46500	2.867000	0.48428	0.803000	0.34113	0.655000	0.94253	CAG		0.463	CYP1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218580.3	NM_000104		6	53	1	0	5.9392e-07	1	6.46546e-07	6	53				
NYAP2	57624	broad.mit.edu	37	2	226447504	226447504	+	Silent	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr2:226447504C>T	ENST00000272907.6	+	4	1784	c.1371C>T	c.(1369-1371)taC>taT	p.Y457Y	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	457	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTCCCCCTTACGACGCTGTGC	0.622																																						ENST00000272907.6																			0											c.(1369-1371)taC>taT		neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2							44.0	48.0	47.0					2																	226447504		2037	4194	6231	SO:0001819	synonymous_variant	57624							g.chr2:226447504C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.1371C>T	2.37:g.226447504C>T						NYAP2_ENST00000409269.2_Intron	p.Y457Y	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN			4	1784	+			457			Pro-rich.		A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.1371C>T	CCDS46529.1																																																																																				0.622	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864		8	28	0	0	0	1	0	8	28				
ZNF761	388561	broad.mit.edu	37	19	53960318	53960318	+	RNA	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr19:53960318G>A	ENST00000454407.1	+	0	3010							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACACTGGAGAGAAACCTTACC	0.423																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53960318G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53960318G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	3010	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.423	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		8	29	0	0	0	1	0	8	29				
SDAD1	55153	broad.mit.edu	37	4	76898824	76898824	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr4:76898824C>T	ENST00000356260.5	-	4	498	c.380G>A	c.(379-381)cGt>cAt	p.R127H	SDAD1_ENST00000395711.4_Intron	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	127					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATCATGGCAACGAAAAAGTTC	0.373																																						ENST00000356260.5																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(379-381)cGt>cAt		SDA1 domain containing 1							93.0	93.0	93.0					4																	76898824		2203	4300	6503	SO:0001583	missense	55153				protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding	g.chr4:76898824C>T	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.380G>A	4.37:g.76898824C>T	ENSP00000348596:p.Arg127His					SDAD1_ENST00000395711.4_Intron	p.R127H	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		4	498	-			127					Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	ENST00000356260.5	37	c.380G>A	CCDS3573.2	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338150	0.60963	.	.	ENSG00000198301	ENST00000356260	T	0.74106	-0.81	5.19	4.34	0.51931	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.65677	2.01	0.80722	D	1	B	0.29253	0.239	B	0.22601	0.04	T	0.71823	-0.4476	10	0.66056	D	0.02	-1.9366	11.5789	0.50879	0.0:0.9138:0.0:0.0862	.	127	Q9NVU7	SDA1_HUMAN	H	127	ENSP00000348596:R127H	ENSP00000348596:R127H	R	-	2	0	SDAD1	77117848	1.000000	0.71417	0.982000	0.44146	0.840000	0.47671	7.135000	0.77276	1.547000	0.49401	0.650000	0.86243	CGT		0.373	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252418.3	NM_018115		11	49	0	0	0	1	0	11	49				
POSTN	10631	broad.mit.edu	37	13	38154807	38154807	+	Missense_Mutation	SNP	C	C	G			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr13:38154807C>G	ENST00000379747.4	-	11	1537	c.1420G>C	c.(1420-1422)Gag>Cag	p.E474Q	POSTN_ENST00000541481.1_Missense_Mutation_p.E474Q|POSTN_ENST00000379749.4_Missense_Mutation_p.E474Q|POSTN_ENST00000379742.4_Missense_Mutation_p.E474Q|POSTN_ENST00000379743.4_Missense_Mutation_p.E474Q|POSTN_ENST00000541179.1_Missense_Mutation_p.E474Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	474	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCCCTTTCTCCATGCATGAA	0.408																																						ENST00000379747.4																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1420-1422)Gag>Cag		periostin, osteoblast specific factor							222.0	204.0	210.0					13																	38154807		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154807C>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1420G>C	13.37:g.38154807C>G	ENSP00000369071:p.Glu474Gln					POSTN_ENST00000379749.4_Missense_Mutation_p.E474Q|POSTN_ENST00000541179.1_Missense_Mutation_p.E474Q|POSTN_ENST00000379743.4_Missense_Mutation_p.E474Q|POSTN_ENST00000541481.1_Missense_Mutation_p.E474Q|POSTN_ENST00000379742.4_Missense_Mutation_p.E474Q	p.E474Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	11	1537	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	474			FAS1 3.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1420G>C	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562501	0.27915	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69;-2.69;-2.69	5.03	2.15	0.27550	FAS1 domain (6);	0.445427	0.25236	N	0.032123	T	0.82195	0.4984	N	0.24115	0.695	0.25714	N	0.985449	P;B;P;P;B;B;P	0.36412	0.546;0.345;0.552;0.49;0.028;0.159;0.552	B;B;B;B;B;B;B	0.39094	0.236;0.152;0.29;0.152;0.003;0.134;0.29	T	0.71388	-0.4608	10	0.28530	T	0.3	-2.1308	7.8701	0.29561	0.0:0.464:0.387:0.149	.	474;474;474;474;474;474;474	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	Q	474	ENSP00000437959:E474Q;ENSP00000369073:E474Q;ENSP00000369071:E474Q;ENSP00000369067:E474Q;ENSP00000369066:E474Q;ENSP00000437953:E474Q	ENSP00000369066:E474Q	E	-	1	0	POSTN	37052807	0.998000	0.40836	1.000000	0.80357	0.394000	0.30568	0.526000	0.22971	0.609000	0.30018	0.563000	0.77884	GAG		0.408	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		30	128	0	0	0	1	0	30	128				
ZDHHC11	79844	broad.mit.edu	37	5	825360	825360	+	Silent	SNP	T	T	C	rs201174878		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:825360T>C	ENST00000283441.8	-	8	1325	c.942A>G	c.(940-942)aaA>aaG	p.K314K	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.K314K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	314						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGCTCTTGGCTTTGACTCTGG	0.552																																						ENST00000283441.8																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(940-942)aaA>aaG		zinc finger, DHHC-type containing 11							168.0	117.0	134.0					5																	825360		2203	4296	6499	SO:0001819	synonymous_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:825360T>C	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.942A>G	5.37:g.825360T>C						ZDHHC11_ENST00000424784.2_Silent_p.K314K|ZDHHC11_ENST00000503758.2_5'UTR	p.K314K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		8	1325	-			314					Q6UWR9	Silent	SNP	ENST00000283441.8	37	c.942A>G	CCDS3857.1																																																																																				0.552	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		7	96	0	0	0	1	0	7	96				
SIAH1	6477	broad.mit.edu	37	16	48396084	48396084	+	Missense_Mutation	SNP	C	C	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr16:48396084C>T	ENST00000380006.2	-	1	1709	c.256G>A	c.(256-258)Gct>Act	p.A86T	SIAH1_ENST00000356721.3_Missense_Mutation_p.A117T|SIAH1_ENST00000394725.2_Missense_Mutation_p.A86T|SIAH1_ENST00000573005.1_5'Flank			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	86					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TTCTCCATAGCCAAGTTGCGA	0.463																																						ENST00000380006.2																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(256-258)Gct>Act		siah E3 ubiquitin protein ligase 1							76.0	73.0	74.0					16																	48396084		2200	4300	6500	SO:0001583	missense	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48396084C>T	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.256G>A	16.37:g.48396084C>T	ENSP00000369343:p.Ala86Thr					SIAH1_ENST00000394725.2_Missense_Mutation_p.A86T|SIAH1_ENST00000356721.3_Missense_Mutation_p.A117T	p.A86T			Q8IUQ4	SIAH1_HUMAN			1	1709	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	86					A0FKF3|O43269|Q49A58|Q92880	Missense_Mutation	SNP	ENST00000380006.2	37	c.256G>A	CCDS10735.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774229	0.90108	.	.	ENSG00000196470	ENST00000356721;ENST00000394725;ENST00000380006	T;T	0.17854	2.25;2.25	5.5	5.5	0.81552	Zinc finger, RING/FYVE/PHD-type (1);Seven-in-absentia protein, TRAF-like domain (1);	0.000000	0.85682	U	0.000000	T	0.39436	0.1078	M	0.85945	2.785	0.80722	D	1	P;P	0.43287	0.635;0.802	P;P	0.49477	0.612;0.477	T	0.25641	-1.0126	10	0.45353	T	0.12	-9.346	19.3841	0.94550	0.0:1.0:0.0:0.0	.	86;117	Q8IUQ4;Q8IUQ4-2	SIAH1_HUMAN;.	T	117;86;102	ENSP00000349156:A117T;ENSP00000378214:A86T	ENSP00000349156:A117T	A	-	1	0	SIAH1	46953585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.590000	0.87494	0.655000	0.94253	GCT		0.463	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			13	63	0	0	0	1	0	13	63				
SYCP1	6847	broad.mit.edu	37	1	115398176	115398176	+	Missense_Mutation	SNP	G	G	A			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr1:115398176G>A	ENST00000369522.3	+	2	331	c.91G>A	c.(91-93)Gat>Aat	p.D31N	SYCP1_ENST00000369518.1_Missense_Mutation_p.D31N	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	31	Asp/Glu-rich (acidic).				chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGGGAGGCGATTCCACTTT	0.433																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(91-93)Gat>Aat		synaptonemal complex protein 1							67.0	66.0	66.0					1																	115398176		2203	4300	6503	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115398176G>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.91G>A	1.37:g.115398176G>A	ENSP00000358535:p.Asp31Asn					SYCP1_ENST00000369518.1_Missense_Mutation_p.D31N	p.D31N	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	2	331	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	31			Asp/Glu-rich (acidic).		O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.91G>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419051	0.42918	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.57752	0.38;0.38;0.38	4.94	4.94	0.65067	.	0.448038	0.23624	N	0.046210	T	0.50939	0.1645	L	0.51422	1.61	0.26567	N	0.973638	D;D	0.76494	0.999;0.999	D;D	0.67900	0.954;0.954	T	0.41840	-0.9486	10	0.28530	T	0.3	-8.0648	12.8177	0.57675	0.0:0.1647:0.8353:0.0	.	31;31	B7ZLS9;Q15431	.;SYCP1_HUMAN	N	31	ENSP00000358535:D31N;ENSP00000410011:D31N;ENSP00000358531:D31N	ENSP00000358531:D31N	D	+	1	0	SYCP1	115199699	1.000000	0.71417	0.997000	0.53966	0.083000	0.17756	5.666000	0.68059	2.285000	0.76669	0.561000	0.74099	GAT		0.433	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		12	37	0	0	0	1	0	12	37				
HTR3C	170572	broad.mit.edu	37	3	183774688	183774688	+	Missense_Mutation	SNP	G	G	A	rs201628957		TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr3:183774688G>A	ENST00000318351.1	+	5	449	c.415G>A	c.(415-417)Ggt>Agt	p.G139S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	139					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GACGCCTTCCGGTCTCACTGC	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		18506	0.001		0.0	False		,,,				2504	0.0					ENST00000318351.1																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32						c.(415-417)Ggt>Agt		5-hydroxytryptamine (serotonin) receptor 3C, ionotropic							159.0	139.0	146.0					3																	183774688		2203	4300	6503	SO:0001583	missense	170572					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183774688G>A	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.415G>A	3.37:g.183774688G>A	ENSP00000322617:p.Gly139Ser						p.G139S	NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		5	449	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		139					A2RRR5	Missense_Mutation	SNP	ENST00000318351.1	37	c.415G>A	CCDS3250.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	10.90	1.482187	0.26598	.	.	ENSG00000178084	ENST00000318351	T	0.77489	-1.1	4.79	3.89	0.44902	Neurotransmitter-gated ion-channel ligand-binding (3);	0.786148	0.12335	N	0.477992	T	0.73575	0.3604	L	0.55743	1.74	0.09310	N	1	P	0.45672	0.864	B	0.43018	0.405	T	0.60094	-0.7330	10	0.21540	T	0.41	-2.0299	11.2641	0.49099	0.0:0.3588:0.6412:0.0	.	139	Q8WXA8	5HT3C_HUMAN	S	139	ENSP00000322617:G139S	ENSP00000322617:G139S	G	+	1	0	HTR3C	185257382	0.000000	0.05858	0.011000	0.14972	0.304000	0.27724	0.211000	0.17474	1.206000	0.43276	0.561000	0.74099	GGT		0.502	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346296.1	NM_130770		27	129	0	0	0	1	0	27	129				
NCMAP	400746	broad.mit.edu	37	1	24927452	24927452	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr1:24927452delC	ENST00000374392.2	+	3	170	c.104delC	c.(103-105)gccfs	p.A35fs	NCMAP_ENST00000486262.1_3'UTR	NM_001010980.4	NP_001010980.1	Q5T1S8	NCMAP_HUMAN	noncompact myelin associated protein	35					peripheral nervous system myelin formation (GO:0032290)|positive regulation of myelination (GO:0031643)	integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|Schmidt-Lanterman incisure (GO:0043220)	structural constituent of myelin sheath (GO:0019911)										ATTGTTGCTGCCGTTGTGGTG	0.547																																						ENST00000374392.2																			0											c.(103-105)gcfs		noncompact myelin associated protein							262.0	206.0	225.0					1																	24927452		2203	4300	6503	SO:0001589	frameshift_variant	400746							g.chr1:24927452delC	AK124519	CCDS30632.1	1p36.11	2012-07-31	2012-07-31	2012-07-31	ENSG00000184454	ENSG00000184454			29332	protein-coding gene	gene with protein product	"""myelin protein of 11 kDa"""		"""chromosome 1 open reading frame 130"""	C1orf130		18650334	Standard	NM_001010980		Approved	FLJ42528, MP11	uc001bjk.2	Q5T1S8	OTTHUMG00000003317	ENST00000374392.2:c.104delC	1.37:g.24927452delC	ENSP00000363513:p.Ala35fs					NCMAP_ENST00000486262.1_3'UTR	p.A35fs	NM_001010980.4	NP_001010980.1					3	170	+								A0PK04|B2RV34	Frame_Shift_Del	DEL	ENST00000374392.2	37	c.104delC	CCDS30632.1																																																																																				0.547	NCMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009288.2	NM_001010980		15	78						15	78	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139422532	139422534	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr5:139422532_139422534delGCT	ENST00000361474.1	-	1	345_347	c.121_123delAGC	c.(121-123)agcdel	p.S41del	NRG2_ENST00000541337.1_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000394770.1_In_Frame_Del_p.S41del|NRG2_ENST00000545385.1_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del|NRG2_ENST00000289422.7_In_Frame_Del_p.S41del	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	41	Poly-Ser.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S41delS(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgccgctctcgctgctgctgctg	0.7																																						ENST00000541337.1																			2	Deletion - In frame(2)	p.S41delS(2)	soft_tissue(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(121-123)del		neuregulin 2			,,,,	9,5,109,1819		2,0,0,5,1,0,3,19,71,870					,,,,	0.6	0.8			4	20,40,281,3927		5,0,1,9,12,0,16,38,204,1849	no	codingComplex,codingComplex,codingComplex,codingComplex,codingComplex	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	7,0,1,14,13,0,19,57,275,2719	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.9897,6.3337,7.4718	,,,,	,,,,		29,45,390,5746				SO:0001651	inframe_deletion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422532_139422534delGCT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.121_123delAGC	5.37:g.139422541_139422543delGCT	ENSP00000354910:p.Ser41del					NRG2_ENST00000545385.1_In_Frame_Del_p.S41del|NRG2_ENST00000361474.1_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000289422.7_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del|NRG2_ENST00000394770.1_In_Frame_Del_p.S41del	p.S41del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	350_352	-			41			Poly-Ser.			In_Frame_Del	DEL	ENST00000361474.1	37	c.121_123delAGC	CCDS4217.1																																																																																				0.700	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		2	4						2	4	---	---	---	---
STX11	8676	broad.mit.edu	37	6	144508360	144508361	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr6:144508360_144508361delGC	ENST00000367568.4	+	2	779_780	c.596_597delGC	c.(595-597)ggcfs	p.G199fs		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	199					cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GACGTGAAGGGCGCGCGGGCCG	0.634									Familial Hemophagocytic Lymphohistiocytosis																													ENST00000367568.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12						c.(595-597)gfs		syntaxin 11																																				SO:0001589	frameshift_variant	8676	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity	g.chr6:144508360_144508361delGC	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.596_597delGC	6.37:g.144508364_144508365delGC	ENSP00000356540:p.Gly199fs						p.G199fs	NM_003764.3	NP_003755.2	O75558	STX11_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)	2	779_780	+			199					E1P598|O75378|O95148|Q5TCL6	Frame_Shift_Del	DEL	ENST00000367568.4	37	c.596_597delGC	CCDS5205.1																																																																																				0.634	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042544.1			8	46						8	46	---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr14:99641544_99641546delCTC	ENST00000357195.3	-	4	1636_1638	c.1627_1629delGAG	c.(1627-1629)gagdel	p.E543del	BCL11B_ENST00000345514.2_In_Frame_Del_p.E472del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.7			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1414-1416)del		B-cell CLL/lymphoma 11B (zinc finger protein)			,	259,3515		17,225,1645					,	1.8	1.0			6	544,6744		46,452,3146	no	coding,coding	BCL11B	NM_138576.2,NM_022898.1	,	63,677,4791	A1A1,A1R,RR		7.4643,6.8627,7.2591	,	,		803,10259				SO:0001651	inframe_deletion	64919					nucleus	zinc ion binding	g.chr14:99641544_99641546delCTC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1627_1629delGAG	14.37:g.99641553_99641555delCTC	ENSP00000349723:p.Glu543del					BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del	p.E472del	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1680_1682	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	543					Q9H162	In_Frame_Del	DEL	ENST00000357195.3	37	c.1414_1416delGAG	CCDS9950.1																																																																																				0.700	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		4	9						4	9	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61378551	61378552	+	RNA	INS	-	-	T			TCGA-C9-A480-01A-12D-A24D-08	TCGA-C9-A480-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b69a2eb7-d372-4bee-b621-5ed211223f92	230541f9-3ba3-4a77-9f10-0d76eff80f37	g.chr18:61378551_61378552insT	ENST00000382749.5	+	0	413				SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAAAAGATCCCTTTTTTTTCTT	0.337																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61378551_61378552insT			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61378559_61378559dupT						SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	230	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	INS	ENST00000382749.5	37																																																																																						0.337	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		10	47						10	47	---	---	---	---
