#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
TRBV25-1	28562	broad.mit.edu	37	7	142378659	142378659	+	RNA	SNP	T	T	G			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:142378659T>G	ENST00000390398.3	+	0	86									T cell receptor beta variable 25-1																		TGGGGGCAGGTAAGTCATAGA	0.478																																						ENST00000390398.3																			0																				82.0	70.0	74.0					7																	142378659		1873	4107	5980			28562							g.chr7:142378659T>G	L27610		7q34	2012-02-07			ENSG00000211751	ENSG00000211751		"""T cell receptors / TRB locus"""	12205	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV251, TCRBV11S1A1T, TCRBV25S1			OTTHUMG00000158868		7.37:g.142378659T>G														0	86	+									RNA	SNP	ENST00000390398.3	37																																																																																						0.478	TRBV25-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352476.2	NG_001333		16	26	0	0	0	1	0	16	26				
CYFIP2	26999	broad.mit.edu	37	5	156753240	156753240	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr5:156753240A>T	ENST00000521420.1	+	17	2057	c.1966A>T	c.(1966-1968)Aaa>Taa	p.K656*	CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.K607*|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.K381*|CYFIP2_ENST00000347377.6_Nonsense_Mutation_p.K682*|CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.K682*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.K707*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.K486*					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCAAGTTTAAAAAGCAGTT	0.448																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.(2044-2046)Aaa>Taa		cytoplasmic FMR1 interacting protein 2							178.0	173.0	175.0					5																	156753240		1940	4142	6082	SO:0001587	stop_gained	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156753240A>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1966A>T	5.37:g.156753240A>T	ENSP00000430904:p.Lys656*					CYFIP2_ENST00000377576.3_Nonsense_Mutation_p.K682*|CYFIP2_ENST00000318218.6_Nonsense_Mutation_p.K707*|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000541131.1_Nonsense_Mutation_p.K607*|CYFIP2_ENST00000522463.1_Nonsense_Mutation_p.K486*|CYFIP2_ENST00000521420.1_Nonsense_Mutation_p.K656*|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Nonsense_Mutation_p.K381*	p.K682*	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		18	2475	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	707						Nonsense_Mutation	SNP	ENST00000521420.1	37	c.2044A>T		.	.	.	.	.	.	.	.	.	.	A	42	9.538752	0.99199	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	.	.	.	4.96	3.76	0.43208	.	0.042909	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.7913	11.9024	0.52690	0.854:0.146:0.0:0.0	.	.	.	.	X	707;486;656;682;682;607;381	.	ENSP00000325817:K707X	K	+	1	0	CYFIP2	156685818	1.000000	0.71417	0.944000	0.38274	0.989000	0.77384	9.236000	0.95360	0.806000	0.34183	0.533000	0.62120	AAA		0.448	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		82	32	0	0	0	1	0	82	32				
KIAA1217	56243	broad.mit.edu	37	10	24813481	24813481	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr10:24813481C>T	ENST00000376454.3	+	13	2716	c.2686C>T	c.(2686-2688)Ccc>Tcc	p.P896S	KIAA1217_ENST00000376451.2_Missense_Mutation_p.P579S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P861S|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P579S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P861S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P816S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P579S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P579S	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	896					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GGTCATCCAGCCCTCCCAGCA	0.642																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(1735-1737)Ccc>Tcc		KIAA1217							62.0	51.0	55.0					10																	24813481		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24813481C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.2686C>T	10.37:g.24813481C>T	ENSP00000365637:p.Pro896Ser					KIAA1217_ENST00000376454.3_Missense_Mutation_p.P896S|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P579S|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P861S|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P579S|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P816S|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P861S|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P579S	p.P579S			Q5T5P2	SKT_HUMAN			8	1995	+			896					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1735C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183514	0.38609	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.31	4.4	0.53042	.	0.199411	0.43919	D	0.000504	T	0.36663	0.0975	L	0.40543	1.245	0.40758	D	0.982975	B;B;B;B;B;B;P;B	0.36789	0.102;0.075;0.043;0.052;0.359;0.043;0.57;0.161	B;B;B;B;B;B;B;B	0.39217	0.054;0.055;0.049;0.047;0.167;0.054;0.294;0.053	T	0.10753	-1.0616	10	0.19147	T	0.46	.	15.281	0.73784	0.1417:0.8583:0.0:0.0	.	861;861;579;579;579;579;896;896	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	S	816;861;861;579;896;861;711;579;579;579;579;579	ENSP00000365645:P816S;ENSP00000365639:P861S;ENSP00000392625:P861S;ENSP00000365637:P896S;ENSP00000365635:P861S;ENSP00000404798:P711S;ENSP00000302343:P579S;ENSP00000379722:P579S;ENSP00000365634:P579S;ENSP00000379723:P579S	ENSP00000302343:P579S	P	+	1	0	KIAA1217	24853487	1.000000	0.71417	0.990000	0.47175	0.141000	0.21300	3.607000	0.54102	1.223000	0.43536	0.491000	0.48974	CCC		0.642	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		31	14	0	0	0	1	0	31	14				
TRAPPC9	83696	broad.mit.edu	37	8	141461118	141461118	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:141461118C>T	ENST00000438773.2	-	2	488	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.G217R|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.G119R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	119					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCCTGCAGCCCGAAGACAAAG	0.582																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(649-651)Ggg>Agg		trafficking protein particle complex 9							64.0	59.0	61.0					8																	141461118		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141461118C>T	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.355G>A	8.37:g.141461118C>T	ENSP00000405060:p.Gly119Arg					TRAPPC9_ENST00000389327.3_Missense_Mutation_p.G119R|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.G119R	p.G217R	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			2	663	-			119					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.649G>A	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817682	0.90790	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.74647	2.275	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.81967	-0.0690	9	0.66056	D	0.02	.	18.9014	0.92444	0.0:1.0:0.0:0.0	.	119;119;217	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	R	217;119;119	.	ENSP00000373978:G119R	G	-	1	0	TRAPPC9	141530300	1.000000	0.71417	0.995000	0.50966	0.846000	0.48090	7.642000	0.83385	2.462000	0.83206	0.650000	0.86243	GGG		0.582	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		38	51	0	0	0	1	0	38	51				
ATM	472	broad.mit.edu	37	11	108175462	108175462	+	Missense_Mutation	SNP	G	G	A	rs1801516	byFrequency	TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:108175462G>A	ENST00000452508.2	+	38	5746	c.5557G>A	c.(5557-5559)Gat>Aat	p.D1853N	ATM_ENST00000278616.4_Missense_Mutation_p.D1853N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1853			D -> N (common polymorphism; dbSNP:rs1801516). {ECO:0000269|PubMed:10397742, ECO:0000269|PubMed:10425038, ECO:0000269|PubMed:10534763, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9711876, ECO:0000269|PubMed:9887333}.|D -> V (might contribute to B-cell chronic lymphocytic leukemia; dbSNP:rs1801673). {ECO:0000269|PubMed:10397742, ECO:0000269|PubMed:10817650, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9872980, ECO:0000269|PubMed:9887333}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.D1853N(10)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTACTCCAAGATACAAATGA	0.388			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			G|||	335	0.066893	0.0083	0.0965	5008	,	,		16727	0.0159		0.162	False		,,,				2504	0.0798					ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		10	Substitution - Missense(10)	p.D1853N(10)	breast(9)|skin(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448	GRCh37	CM077896	ATM	M	rs1801516	c.(5557-5559)Gat>Aat	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated		G	ASN/ASP	125,4277	92.5+/-131.2	3,119,2079	75.0	72.0	73.0	http://www.ncbi.nlm.nih.gov/pubmed?term	5557	5.5	1.0	11	dbSNP_89	73	1205,7391	241.8+/-272.0	99,1007,3192	yes	missense	ATM	NM_000051.3	23	102,1126,5271	AA,AG,GG	http://www.ncbi.nlm.nih.gov/pubmed?term	14.0181,2.8396,10.2323	possibly-damaging	1853/3057	108175462	1330,11668	2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108175462G>A	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.5557G>A	11.37:g.108175462G>A	ENSP00000388058:p.Asp1853Asn	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.D1853N	p.D1853N	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	37	5942	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1853		D -> N (common polymorphism; dbSNP:rs1801516).|D -> V (might contribute to B-cell chronic lymphocytic leukemia; dbSNP:rs1801673).			B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.5557G>A	CCDS31669.1	172	0.07875457875457875	5	0.01016260162601626	40	0.11049723756906077	7	0.012237762237762238	120	0.158311345646438	G	17.18	3.324076	0.60634	0.028396	0.140181	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.73152	-0.72;-0.72	5.52	5.52	0.82312	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.00580	0.0019	L	0.61036	1.89	0.19945	P	0.9999491241	B	0.20368	0.044	B	0.16289	0.015	T	0.10730	-1.0617	9	0.33940	T	0.23	.	19.8041	0.96521	0.0:0.0:1.0:0.0	rs1801516;rs17503060;rs52821794;rs60879649;rs1801516	1853	Q13315	ATM_HUMAN	N	1853	ENSP00000278616:D1853N;ENSP00000388058:D1853N	ENSP00000278616:D1853N	D	+	1	0	ATM	107680672	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.342000	0.72982	2.748000	0.94277	0.591000	0.81541	GAT		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		5	57	0	0	0	1	0	5	57				
CLVS1	157807	broad.mit.edu	37	8	62212794	62212794	+	Silent	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:62212794C>T	ENST00000519846.1	+	3	880	c.408C>T	c.(406-408)taC>taT	p.Y136Y	CLVS1_ENST00000325897.4_Silent_p.Y136Y|RP11-787D18.1_ENST00000521801.1_RNA|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	136	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.Y136*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443																																						ENST00000519846.1																			1	Substitution - Nonsense(1)	p.Y136*(1)	lung(1)	endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(406-408)taC>taT		clavesin 1																																				SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212794C>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.408C>T	8.37:g.62212794C>T						CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.Y136Y|RP11-787D18.1_ENST00000518064.1_RNA	p.Y136Y			Q8IUQ0	CLVS1_HUMAN			3	880	+			136			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.408C>T	CCDS6176.1																																																																																				0.443	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		32	38	0	0	0	1	0	32	38				
NOXRED1	122945	broad.mit.edu	37	14	77872436	77872436	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr14:77872436T>C	ENST00000380835.2	-	5	891	c.725A>G	c.(724-726)tAt>tGt	p.Y242C		NM_001113475.2	NP_001106946.1	Q6NXP6	NXRD1_HUMAN	NADP-dependent oxidoreductase domain containing 1	242					proline biosynthetic process (GO:0006561)		pyrroline-5-carboxylate reductase activity (GO:0004735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						TAGGGCCGCATAGAACACTCC	0.463																																						ENST00000380835.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(724-726)tAt>tGt		NADP-dependent oxidoreductase domain containing 1							86.0	74.0	78.0					14																	77872436		1568	3582	5150	SO:0001583	missense	122945				proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity	g.chr14:77872436T>C	AK057371	CCDS45142.1	14q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000165555	ENSG00000165555			20487	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 148"""	C14orf148			Standard	NM_001113475		Approved	FLJ32809	uc001xtr.3	Q6NXP6	OTTHUMG00000171554	ENST00000380835.2:c.725A>G	14.37:g.77872436T>C	ENSP00000370215:p.Tyr242Cys						p.Y242C	NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN			5	891	-			242					B3KQ47|O95435	Missense_Mutation	SNP	ENST00000380835.2	37	c.725A>G	CCDS45142.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.389677	0.42410	.	.	ENSG00000165555	ENST00000380835	T	0.73258	-0.73	5.79	5.79	0.91817	.	0.072876	0.56097	D	0.000027	T	0.81133	0.4759	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.82900	-0.0228	10	0.87932	D	0	-13.7562	13.6387	0.62237	0.0:0.0:0.0:1.0	.	242	Q6NXP6	NXRD1_HUMAN	C	242	ENSP00000370215:Y242C	ENSP00000370215:Y242C	Y	-	2	0	C14orf148	76942189	0.997000	0.39634	0.426000	0.26672	0.040000	0.13550	4.372000	0.59530	2.212000	0.71576	0.455000	0.32223	TAT		0.463	NOXRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414103.1	NM_138791		12	26	0	0	0	1	0	12	26				
POLQ	10721	broad.mit.edu	37	3	121206858	121206858	+	Silent	SNP	T	T	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:121206858T>A	ENST00000264233.5	-	16	5048	c.4920A>T	c.(4918-4920)ccA>ccT	p.P1640P		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1640					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTGCAGTCCTGGACTTAGAT	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(4918-4920)ccA>ccT	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							135.0	139.0	138.0					3																	121206858		2203	4299	6502	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121206858T>A	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4920A>T	3.37:g.121206858T>A							p.P1640P	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	5048	-			1640					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.4920A>T	CCDS33833.1																																																																																				0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		78	317	0	0	0	1	0	78	317				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			374491							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	8	0	0	0	1	0	4	8				
MNS1	55329	broad.mit.edu	37	15	56748690	56748690	+	Silent	SNP	G	G	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr15:56748690G>T	ENST00000260453.3	-	3	419	c.255C>A	c.(253-255)ctC>ctA	p.L85L		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	85	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GTTTGAGCTGGAGTTCTTTCA	0.348																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(253-255)ctC>ctA		meiosis-specific nuclear structural 1							170.0	155.0	160.0					15																	56748690		2191	4292	6483	SO:0001819	synonymous_variant	55329				meiosis			g.chr15:56748690G>T	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.255C>A	15.37:g.56748690G>T							p.L85L	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	3	419	-			85			Glu-rich.		Q8IYT6|Q9NUP4	Silent	SNP	ENST00000260453.3	37	c.255C>A	CCDS10158.1																																																																																				0.348	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		12	38	1	0	0.00010058	1	0.000103538	12	38				
OR4E2	26686	broad.mit.edu	37	14	22133973	22133973	+	Missense_Mutation	SNP	G	G	A	rs369264275		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr14:22133973G>A	ENST00000408935.1	+	1	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTCTCTTCGAAAACACTCA	0.502																																						ENST00000408935.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(676-678)cGa>cAa		olfactory receptor, family 4, subfamily E, member 2		G	GLN/ARG	0,3936		0,0,1968	126.0	117.0	120.0		677	4.7	1.0	14		120	1,8295		0,1,4147	no	missense	OR4E2	NM_001001912.1	43	0,1,6115	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	226/314	22133973	1,12231	1968	4148	6116	SO:0001583	missense	26686				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22133973G>A		CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.677G>A	14.37:g.22133973G>A	ENSP00000386195:p.Arg226Gln						p.R226Q	NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN		GBM - Glioblastoma multiforme(265;0.0137)	1	677	+	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	226					Q6IET6|Q96R62	Missense_Mutation	SNP	ENST00000408935.1	37	c.677G>A	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808967	0.50421	0.0	1.21E-4	ENSG00000221977	ENST00000408935	T	0.00231	8.49	5.59	4.7	0.59300	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35525	U	0.003147	T	0.00300	0.0009	L	0.42581	1.335	0.18873	N	0.999983	D	0.69078	0.997	P	0.58820	0.846	T	0.55661	-0.8106	10	0.59425	D	0.04	.	8.6991	0.34314	0.1719:0.0:0.8281:0.0	.	226	Q8NGC2	OR4E2_HUMAN	Q	226	ENSP00000386195:R226Q	ENSP00000386195:R226Q	R	+	2	0	OR4E2	21203813	0.000000	0.05858	1.000000	0.80357	0.483000	0.33249	0.555000	0.23422	1.494000	0.48533	0.591000	0.81541	CGA		0.502	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1			63	70	0	0	0	1	0	63	70				
ABCA3	21	broad.mit.edu	37	16	2347470	2347470	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr16:2347470T>C	ENST00000301732.5	-	17	2823	c.2123A>G	c.(2122-2124)cAg>cGg	p.Q708R	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q650R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	708	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.Q708R(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TTTCTGCCGCTGAAGAAGATC	0.622																																						ENST00000301732.5																			1	Substitution - Missense(1)	p.Q708R(1)	upper_aerodigestive_tract(1)	breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(2122-2124)cAg>cGg		ATP-binding cassette, sub-family A (ABC1), member 3							174.0	131.0	145.0					16																	2347470		2198	4300	6498	SO:0001583	missense	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347470T>C	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2123A>G	16.37:g.2347470T>C	ENSP00000301732:p.Gln708Arg					ABCA3_ENST00000382381.3_Missense_Mutation_p.Q650R	p.Q708R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN			17	2823	-		Ovarian(90;0.17)	708			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Missense_Mutation	SNP	ENST00000301732.5	37	c.2123A>G	CCDS10466.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.074043	0.36566	.	.	ENSG00000167972	ENST00000301732;ENST00000382381	D	0.95069	-3.6	6.17	5.09	0.68999	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.058511	0.64402	D	0.000001	D	0.86485	0.5944	N	0.04508	-0.205	0.80722	D	1	B;B;P	0.38473	0.126;0.07;0.633	B;B;B	0.41174	0.104;0.063;0.349	D	0.86131	0.1575	10	0.49607	T	0.09	.	8.0775	0.30724	0.0:0.1486:0.0:0.8514	.	708;712;708	A7MBM9;Q4LE27;Q99758	.;.;ABCA3_HUMAN	R	708;712	ENSP00000301732:Q708R	ENSP00000301732:Q708R	Q	-	2	0	ABCA3	2287471	1.000000	0.71417	0.999000	0.59377	0.054000	0.15201	4.806000	0.62569	2.371000	0.80710	0.533000	0.62120	CAG		0.622	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		62	29	0	0	0	1	0	62	29				
KCNB2	9312	broad.mit.edu	37	8	73850051	73850051	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:73850051G>A	ENST00000523207.1	+	3	3049	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	821					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	GCTCCCAGGGGCAAGGGAGGA	0.507																																						ENST00000523207.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(2461-2463)Gca>Aca		potassium voltage-gated channel, Shab-related subfamily, member 2							70.0	71.0	71.0					8																	73850051		2203	4300	6503	SO:0001583	missense	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73850051G>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.2461G>A	8.37:g.73850051G>A	ENSP00000430846:p.Ala821Thr						p.A821T	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	3049	+	Breast(64;0.137)		821					Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	37	c.2461G>A	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	G	0.038	-1.297236	0.01364	.	.	ENSG00000182674	ENST00000523207	D	0.96830	-4.14	5.46	-10.9	0.00192	.	2.805080	0.01939	N	0.041746	D	0.86871	0.6037	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.80094	-0.1526	10	0.19590	T	0.45	.	5.2666	0.15603	0.4745:0.2936:0.1579:0.074	.	821	Q92953	KCNB2_HUMAN	T	821	ENSP00000430846:A821T	ENSP00000430846:A821T	A	+	1	0	KCNB2	74012605	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-1.526000	0.02229	-3.206000	0.00216	-0.218000	0.12543	GCA		0.507	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		45	77	0	0	0	1	0	45	77				
CDCA4	55038	broad.mit.edu	37	14	105478059	105478059	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr14:105478059G>C	ENST00000336219.3	-	2	363	c.208C>G	c.(208-210)Caa>Gaa	p.Q70E	CDCA4_ENST00000392590.3_Missense_Mutation_p.Q70E	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	70	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		ATCTCCTCTTGGATCTGCCGG	0.632																																						ENST00000336219.3																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(208-210)Caa>Gaa		cell division cycle associated 4							54.0	43.0	47.0					14																	105478059		2203	4300	6503	SO:0001583	missense	55038					nucleus		g.chr14:105478059G>C	BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.208C>G	14.37:g.105478059G>C	ENSP00000337226:p.Gln70Glu					CDCA4_ENST00000392590.3_Missense_Mutation_p.Q70E	p.Q70E	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)	2	363	-		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	70			SERTA.		Q8TB18|Q9NWK7	Missense_Mutation	SNP	ENST00000336219.3	37	c.208C>G	CCDS9996.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684266	0.47991	.	.	ENSG00000170779	ENST00000336219;ENST00000392590	T;T	0.39787	1.06;1.06	4.56	4.56	0.56223	.	0.058406	0.64402	N	0.000001	T	0.28599	0.0708	N	0.14661	0.345	0.58432	D	0.999996	B	0.32409	0.37	B	0.30316	0.114	T	0.18429	-1.0337	10	0.51188	T	0.08	-0.2201	16.674	0.85274	0.0:0.0:1.0:0.0	.	70	Q9BXL8	CDCA4_HUMAN	E	70	ENSP00000337226:Q70E;ENSP00000376369:Q70E	ENSP00000337226:Q70E	Q	-	1	0	CDCA4	104549104	1.000000	0.71417	0.975000	0.42487	0.485000	0.33311	9.016000	0.93645	2.235000	0.73313	0.655000	0.94253	CAA		0.632	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410311.1	NM_145701		43	50	0	0	0	1	0	43	50				
PPP2R2D	55844	broad.mit.edu	37	10	133761152	133761152	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr10:133761152G>A	ENST00000422256.2	+	6	741	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	313					exit from mitosis (GO:0010458)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		ACTACCTGTCGGTGAAGGTGT	0.512																																						ENST00000422256.2																			0				endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(256-258)Ggt>Agt		protein phosphatase 2, regulatory subunit B, delta							76.0	77.0	77.0					10																	133761152		2006	4195	6201	SO:0001583	missense	55844				cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr10:133761152G>A	AF220046	CCDS73224.1	10q26.3	2013-01-10	2010-06-18		ENSG00000175470	ENSG00000175470		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	23732	protein-coding gene	gene with protein product	"""PP2A subunit B isoform delta"""	613992	"""protein phosphatase 2, regulatory subunit B, delta isoform"""			10819331	Standard	XM_005277927		Approved	MDS026	uc001lks.3	Q66LE6	OTTHUMG00000019277	ENST00000422256.2:c.256G>A	10.37:g.133761152G>A	ENSP00000406501:p.Gly86Ser					PPP2R2D_ENST00000470416.1_3'UTR	p.G86S			Q66LE6	2ABD_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)	6	741	+		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)	56					A8KAK0|Q5SQJ2|Q9P1Y7	Missense_Mutation	SNP	ENST00000422256.2	37	c.256G>A		.	.	.	.	.	.	.	.	.	.	G	11.71	1.721119	0.30503	.	.	ENSG00000175470	ENST00000422256	.	.	.	3.07	-2.42	0.06542	.	.	.	.	.	T	0.16171	0.0389	.	.	.	0.22305	N	0.99921	.	.	.	.	.	.	T	0.26883	-1.0090	5	0.17832	T	0.49	-14.7115	2.8517	0.05560	0.5587:0.134:0.1715:0.1357	.	.	.	.	S	86	.	ENSP00000406501:G86S	G	+	1	0	PPP2R2D	133611142	0.000000	0.05858	0.985000	0.45067	0.981000	0.71138	-3.982000	0.00320	-0.587000	0.05890	-0.136000	0.14681	GGT		0.512	PPP2R2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_018461		36	14	0	0	0	1	0	36	14				
EMR1	2015	broad.mit.edu	37	19	6897559	6897559	+	Splice_Site	SNP	G	G	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr19:6897559G>T	ENST00000312053.4	+	5	551		c.e5+1		EMR1_ENST00000450315.3_Intron|EMR1_ENST00000601198.1_Splice_Site|AC020895.1_ENST00000580648.1_RNA|EMR1_ENST00000381404.4_Splice_Site|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000381407.5_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1						cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACCTGTGAAGGTATCCATGAC	0.423																																						ENST00000312053.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62						c.e5+1		egf-like module containing, mucin-like, hormone receptor-like 1							84.0	76.0	79.0					19																	6897559		2203	4300	6503	SO:0001630	splice_region_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6897559G>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.514+1G>T	19.37:g.6897559G>T						EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000601198.1_Splice_Site|EMR1_ENST00000381404.4_Splice_Site		NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN			5	551	+	all_hematologic(4;0.166)							A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Splice_Site	SNP	ENST00000312053.4	37		CCDS12175.1	.	.	.	.	.	.	.	.	.	.	G	10.40	1.338992	0.24253	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8593	0.52457	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EMR1	6848559	1.000000	0.71417	0.950000	0.38849	0.222000	0.24845	3.867000	0.56047	1.833000	0.53350	0.551000	0.68910	.		0.423	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		Intron	38	37	1	0	2.87052e-16	1	3.17268e-16	38	37				
MFHAS1	9258	broad.mit.edu	37	8	8748872	8748872	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:8748872G>A	ENST00000276282.6	-	1	2283	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	566	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGTCCCTCCGCGTCGTGCTT	0.652																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21						c.(1696-1698)gCg>gTg		malignant fibrous histiocytoma amplified sequence 1							43.0	38.0	40.0					8																	8748872		2203	4300	6503	SO:0001583	missense	9258							g.chr8:8748872G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1697C>T	8.37:g.8748872G>A	ENSP00000276282:p.Ala566Val						p.A566V	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	2283	-		Hepatocellular(245;0.217)	566			Roc.		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.1697C>T	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059289	0.36373	.	.	ENSG00000147324	ENST00000276282	T	0.35605	1.3	5.15	5.15	0.70609	ROC GTPase (1);	0.471917	0.22431	N	0.060159	T	0.27933	0.0688	L	0.34521	1.04	0.25438	N	0.988128	B	0.25312	0.123	B	0.10450	0.005	T	0.08827	-1.0703	10	0.12430	T	0.62	.	17.8055	0.88600	0.0:0.0:1.0:0.0	.	566	Q9Y4C4	MFHA1_HUMAN	V	566	ENSP00000276282:A566V	ENSP00000276282:A566V	A	-	2	0	MFHAS1	8786282	0.975000	0.34042	0.109000	0.21407	0.955000	0.61496	4.445000	0.60007	2.668000	0.90789	0.563000	0.77884	GCG		0.652	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		24	51	0	0	0	1	0	24	51				
STYK1	55359	broad.mit.edu	37	12	10774533	10774533	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:10774533G>C	ENST00000075503.3	-	10	1526	c.1006C>G	c.(1006-1008)Cta>Gta	p.L336V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGATGCTCTAGGATGCTGGTA	0.418										HNSCC(73;0.22)																												ENST00000075503.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						c.(1006-1008)Cta>Gta		serine/threonine/tyrosine kinase 1							220.0	202.0	208.0					12																	10774533		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10774533G>C	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1006C>G	12.37:g.10774533G>C	ENSP00000075503:p.Leu336Val	HNSCC(73;0.22)					p.L336V	NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN			10	1526	-			336			Protein kinase.		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1006C>G	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297254	0.81025	.	.	ENSG00000060140	ENST00000075503	T	0.70749	-0.51	5.38	5.38	0.77491	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117947	0.37095	N	0.002244	T	0.80660	0.4665	L	0.49640	1.575	0.53005	D	0.999962	D	0.76494	0.999	D	0.75020	0.985	T	0.82289	-0.0531	10	0.87932	D	0	-8.7319	16.6127	0.84892	0.0:0.0:1.0:0.0	.	336	Q6J9G0	STYK1_HUMAN	V	336	ENSP00000075503:L336V	ENSP00000075503:L336V	L	-	1	2	STYK1	10665800	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	2.309000	0.43699	2.514000	0.84764	0.655000	0.94253	CTA		0.418	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		42	87	0	0	0	1	0	42	87				
APEH	327	broad.mit.edu	37	3	49723603	49723603	+	IGR	SNP	G	G	A	rs199969873	byFrequency	TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:49723603G>A	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Missense_Mutation_p.R347W|MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.R333W(5)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													G|||	4	0.000798722	0.0008	0.0	5008	,	,		14102	0.001		0.001	False		,,,				2504	0.001					ENST00000449682.2																			5	Substitution - Missense(5)	p.R333W(5)	endometrium(4)|skin(1)	NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1039-1041)Cgg>Tgg		macrophage stimulating 1 (hepatocyte growth factor-like)																																				SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723603G>A	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723603G>A						MST1_ENST00000383728.3_3'UTR	p.R347W	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	9	1400	-			333			Kringle 3.		Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	ENST00000296456.5	37	c.1039C>T	CCDS2801.1	11	0.005036630036630037	4	0.008130081300813009	3	0.008287292817679558	0	0.0	4	0.005277044854881266	G	28.4	4.921307	0.92249	.	.	ENSG00000173531	ENST00000449682	D	0.93953	-3.32	5.47	2.53	0.30540	.	0.000000	0.38005	N	0.001857	D	0.96321	0.8800	H	0.97186	3.955	0.80722	D	1	D	0.56521	0.976	P	0.60609	0.877	D	0.95291	0.8395	10	0.66056	D	0.02	.	13.6859	0.62515	0.0:0.0:0.4634:0.5366	.	347	G3XAK1	.	W	347	ENSP00000414287:R347W	ENSP00000414287:R347W	R	-	1	2	MST1	49698607	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.194000	0.51005	0.213000	0.20722	0.655000	0.94253	CGG		0.662	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			3	14	0	0	0	1	0	3	14				
GPC5	2262	broad.mit.edu	37	13	92797181	92797181	+	Silent	SNP	T	T	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr13:92797181T>C	ENST00000377067.3	+	7	1872	c.1500T>C	c.(1498-1500)gaT>gaC	p.D500D		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	500					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				ACTGTGATGATGAAGATGGTT	0.463																																						ENST00000377067.3																			0				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1498-1500)gaT>gaC		glypican 5							182.0	155.0	164.0					13																	92797181		2203	4300	6503	SO:0001819	synonymous_variant	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92797181T>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1500T>C	13.37:g.92797181T>C							p.D500D	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN			7	1872	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	500					B2R726|O60436|Q9BX27	Silent	SNP	ENST00000377067.3	37	c.1500T>C	CCDS9468.1																																																																																				0.463	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		68	18	0	0	0	1	0	68	18				
CUL3	8452	broad.mit.edu	37	2	225342966	225342966	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr2:225342966C>T	ENST00000264414.4	-	15	2464	c.2126G>A	c.(2125-2127)cGg>cAg	p.R709Q	CUL3_ENST00000409777.1_Missense_Mutation_p.R685Q|CUL3_ENST00000344951.4_Missense_Mutation_p.R643Q|CUL3_ENST00000409096.1_Missense_Mutation_p.R685Q	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	709					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.R709Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTCATTATCCGCACTATAGC	0.408																																						ENST00000264414.4																			1	Substitution - Missense(1)	p.R709Q(1)	upper_aerodigestive_tract(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46						c.(2125-2127)cGg>cAg		cullin 3							191.0	172.0	178.0					2																	225342966		2203	4300	6503	SO:0001583	missense	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225342966C>T	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2126G>A	2.37:g.225342966C>T	ENSP00000264414:p.Arg709Gln					CUL3_ENST00000409096.1_Missense_Mutation_p.R685Q|CUL3_ENST00000409777.1_Missense_Mutation_p.R685Q|CUL3_ENST00000344951.4_Missense_Mutation_p.R643Q	p.R709Q	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	15	2464	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	709					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	ENST00000264414.4	37	c.2126G>A	CCDS2462.1	.	.	.	.	.	.	.	.	.	.	C	37	6.302903	0.97458	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777	D;D;D;D	0.86562	-1.86;-1.54;-2.14;-2.14	6.17	6.17	0.99709	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.052754	0.85682	N	0.000000	D	0.96327	0.8802	H	0.96604	3.85	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	D	0.96622	0.9460	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	643;687;709	Q13618-3;Q53S54;Q13618	.;.;CUL3_HUMAN	Q	709;643;685;685	ENSP00000264414:R709Q;ENSP00000343601:R643Q;ENSP00000387200:R685Q;ENSP00000386525:R685Q	ENSP00000264414:R709Q	R	-	2	0	CUL3	225051210	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.463000	0.80869	2.941000	0.99782	0.655000	0.94253	CGG		0.408	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			34	5	0	0	0	1	0	34	5				
TMEM123	114908	broad.mit.edu	37	11	102272718	102272718	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:102272718G>A	ENST00000398136.2	-	3	797	c.377C>T	c.(376-378)tCt>tTt	p.S126F	TMEM123_ENST00000532161.1_Missense_Mutation_p.S38F|TMEM123_ENST00000361236.3_Missense_Mutation_p.S107F|TMEM123_ENST00000525577.1_5'UTR	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	126	Thr-rich.				oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		TGATATCTGAGATGTGTTCTG	0.398																																						ENST00000398136.2																			0				breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9						c.(376-378)tCt>tTt		transmembrane protein 123							435.0	397.0	410.0					11																	102272718		1987	4169	6156	SO:0001583	missense	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272718G>A	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.377C>T	11.37:g.102272718G>A	ENSP00000381204:p.Ser126Phe					TMEM123_ENST00000532161.1_Missense_Mutation_p.S38F|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.S107F	p.S126F	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	3	797	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	126			Thr-rich.		Q8IWS2|Q96QV2	Missense_Mutation	SNP	ENST00000398136.2	37	c.377C>T	CCDS41702.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228165	0.58777	.	.	ENSG00000152558	ENST00000361236;ENST00000398136;ENST00000532161;ENST00000528969	T;T;T;T	0.47869	0.95;1.78;0.83;0.83	5.44	4.53	0.55603	.	0.867615	0.10009	N	0.727459	T	0.40322	0.1112	L	0.34521	1.04	0.09310	N	1	B;B	0.24882	0.043;0.113	B;B	0.26864	0.043;0.074	T	0.37220	-0.9715	10	0.72032	D	0.01	-1.5412	10.412	0.44299	0.0909:0.0:0.9091:0.0	.	107;126	Q8N131-2;Q8N131	.;PORIM_HUMAN	F	107;126;38;38	ENSP00000355285:S107F;ENSP00000381204:S126F;ENSP00000435331:S38F;ENSP00000434976:S38F	ENSP00000355285:S107F	S	-	2	0	TMEM123	101777928	0.056000	0.20664	0.059000	0.19551	0.059000	0.15707	2.774000	0.47694	1.424000	0.47217	0.563000	0.77884	TCT		0.398	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932		49	121	0	0	0	1	0	49	121				
ADAMTS17	170691	broad.mit.edu	37	15	100801716	100801716	+	Silent	SNP	C	C	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr15:100801716C>A	ENST00000268070.4	-	6	1104	c.999G>T	c.(997-999)ccG>ccT	p.P333P	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	333	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCACCAGGGGCGGGTCGTCCT	0.562																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(997-999)ccG>ccT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							73.0	61.0	65.0					15																	100801716		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100801716C>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.999G>T	15.37:g.100801716C>A							p.P333P	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	6	1104	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		333			Peptidase M12B.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.999G>T	CCDS10383.1																																																																																				0.562	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		9	39	1	0	7.48243e-07	1	7.93591e-07	9	39				
CRAMP1L	57585	broad.mit.edu	37	16	1718076	1718076	+	Silent	SNP	C	C	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr16:1718076C>A	ENST00000397412.3	+	18	3315	c.3216C>A	c.(3214-3216)gtC>gtA	p.V1072V	CRAMP1L_ENST00000293925.5_Silent_p.V1072V|CRAMP1L_ENST00000436138.3_Silent_p.V1069V|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Silent_p.V450V			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1072	Ser-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CACCAGACGTCTCTGCTCTGC	0.612																																						ENST00000397412.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						c.(3214-3216)gtC>gtA		Crm, cramped-like (Drosophila)							51.0	53.0	52.0					16																	1718076		2135	4251	6386	SO:0001819	synonymous_variant	57585					nucleus	DNA binding	g.chr16:1718076C>A	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.3216C>A	16.37:g.1718076C>A						CRAMP1L_ENST00000436138.3_Silent_p.V1069V|CRAMP1L_ENST00000293925.5_Silent_p.V1072V|CRAMP1L_ENST00000262317.4_Silent_p.V450V|LA16c-431H6.6_ENST00000454337.1_3'UTR	p.V1072V			Q96RY5	CRML_HUMAN			18	3315	+			1072			Ser-rich.		A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	ENST00000397412.3	37	c.3216C>A	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	C	8.522	0.868924	0.17322	.	.	ENSG00000007545	ENST00000415022	.	.	.	5.86	-0.209	0.13180	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24512	-1.0158	4	.	.	.	-36.8412	0.874	0.01220	0.2013:0.3563:0.1364:0.306	.	.	.	.	I	173	.	.	L	+	1	0	CRAMP1L	1658077	0.551000	0.26497	0.980000	0.43619	0.860000	0.49131	-0.510000	0.06328	0.094000	0.17404	0.650000	0.86243	CTC		0.612	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157297.4			9	44	1	0	1.12685e-05	1	1.17148e-05	9	44				
SYNE3	161176	broad.mit.edu	37	14	95923521	95923521	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr14:95923521G>T	ENST00000334258.5	-	4	796	c.782C>A	c.(781-783)aCa>aAa	p.T261K	SYNE3_ENST00000557275.1_Missense_Mutation_p.T261K|SYNE3_ENST00000553340.1_Missense_Mutation_p.T261K|SYNE3_ENST00000554873.1_5'Flank	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	261					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						TACCTGCAGTGTGGAGAGGCG	0.542																																						ENST00000334258.5																			0				breast(1)|endometrium(2)|lung(25)	28						c.(781-783)aCa>aAa		spectrin repeat containing, nuclear envelope family member 3							124.0	102.0	109.0					14																	95923521		2203	4300	6503	SO:0001583	missense	161176							g.chr14:95923521G>T	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.782C>A	14.37:g.95923521G>T	ENSP00000334308:p.Thr261Lys					SYNE3_ENST00000553340.1_Missense_Mutation_p.T261K|SYNE3_ENST00000557275.1_Missense_Mutation_p.T261K	p.T261K	NM_152592.3	NP_689805.3					4	796	-								A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.782C>A	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	3.424	-0.117521	0.06838	.	.	ENSG00000176438	ENST00000334258;ENST00000557275;ENST00000553340	T;T;T	0.08193	3.69;3.7;3.12	5.17	-1.83	0.07833	.	1.747520	0.03770	N	0.259563	T	0.05273	0.0140	L	0.40543	1.245	0.80722	D	1	P;P;B	0.35745	0.518;0.518;0.384	B;B;B	0.30572	0.076;0.117;0.035	T	0.53121	-0.8483	10	0.02654	T	1	-0.2481	4.0516	0.09798	0.3681:0.0:0.385:0.247	.	261;261;261	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	K	261	ENSP00000334308:T261K;ENSP00000450562:T261K;ENSP00000450774:T261K	ENSP00000334308:T261K	T	-	2	0	C14orf49	94993274	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	0.252000	0.18278	-0.221000	0.09973	0.555000	0.69702	ACA		0.542	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592		59	113	1	0	1.44317e-28	1	1.6652e-28	59	113				
ADAP1	11033	broad.mit.edu	37	7	959664	959664	+	Missense_Mutation	SNP	C	C	T	rs373846581		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:959664C>T	ENST00000265846.5	-	4	548	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Missense_Mutation_p.R121Q|ADAP1_ENST00000449296.2_Missense_Mutation_p.R38Q	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	110	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.R110Q(1)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTACTTGGCCCGGATCCACTG	0.682													C|||	1	0.000199681	0.0008	0.0	5008	,	,		8018	0.0		0.0	False		,,,				2504	0.0					ENST00000265846.5																			1	Substitution - Missense(1)	p.R110Q(1)	upper_aerodigestive_tract(1)	endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(328-330)cGg>cAg		ArfGAP with dual PH domains 1		C	GLN/ARG	0,4404		0,0,2202	38.0	35.0	36.0		329	4.5	1.0	7		36	1,8591	1.2+/-3.3	0,1,4295	no	missense	ADAP1	NM_006869.2	43	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	110/375	959664	1,12995	2202	4296	6498	SO:0001583	missense	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:959664C>T	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.329G>A	7.37:g.959664C>T	ENSP00000265846:p.Arg110Gln					ADAP1_ENST00000463358.1_5'UTR|ADAP1_ENST00000539900.1_Missense_Mutation_p.R121Q|ADAP1_ENST00000449296.2_Missense_Mutation_p.R38Q	p.R110Q	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN			4	548	-			110			Arf-GAP.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	c.329G>A	CCDS5318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.084852|5.084852	0.94100|0.94100	0.0|0.0	1.16E-4|1.16E-4	ENSG00000105963|ENSG00000105963	ENST00000446141;ENST00000437486;ENST00000453823|ENST00000265846;ENST00000449296;ENST00000538188;ENST00000539900;ENST00000435943	.|T;T;T;T	.|0.47528	.|0.84;0.85;0.84;0.84	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	.|0.112189	.|0.56097	.|D	.|0.000024	T|T	0.68796|0.68796	0.3040|0.3040	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.70716	.|0.969;0.97	T|T	0.74562|0.74562	-0.3624|-0.3624	5|10	.|0.87932	.|D	.|0	-33.1793|-33.1793	14.5163|14.5163	0.67821|0.67821	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|15;110	.|B4DUZ7;O75689	.|.;ADAP1_HUMAN	R|Q	93;44;53|110;38;15;121;97	.|ENSP00000265846:R110Q;ENSP00000407267:R38Q;ENSP00000442682:R121Q;ENSP00000394973:R97Q	.|ENSP00000265846:R110Q	G|R	-|-	1|2	0|0	ADAP1|ADAP1	926190|926190	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.816000|0.816000	0.46133|0.46133	4.105000|4.105000	0.57797|0.57797	2.215000|2.215000	0.71742|0.71742	0.549000|0.549000	0.68633|0.68633	GGG|CGG		0.682	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869		10	17	0	0	0	1	0	10	17				
HHIP	64399	broad.mit.edu	37	4	145640051	145640051	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr4:145640051G>A	ENST00000296575.3	+	11	2358	c.1703G>A	c.(1702-1704)aGt>aAt	p.S568N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	568					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)	p.S568N(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTATCAAGCAGTAAAAGTATG	0.333																																						ENST00000296575.3																			1	Substitution - Missense(1)	p.S568N(1)	upper_aerodigestive_tract(1)	central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1702-1704)aGt>aAt		hedgehog interacting protein							112.0	115.0	114.0					4																	145640051		2203	4300	6503	SO:0001583	missense	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145640051G>A	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.1703G>A	4.37:g.145640051G>A	ENSP00000296575:p.Ser568Asn						p.S568N	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	11	2358	+	all_hematologic(180;0.151)		568					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.1703G>A	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.325135	0.60634	.	.	ENSG00000164161	ENST00000296575	T	0.05925	3.37	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.077188	0.85682	D	0.000000	T	0.09113	0.0225	L	0.48986	1.54	0.80722	D	1	B	0.19817	0.039	B	0.13407	0.009	T	0.10823	-1.0613	10	0.35671	T	0.21	-8.9119	16.602	0.84818	0.0:0.1299:0.8701:0.0	.	568	Q96QV1	HHIP_HUMAN	N	568	ENSP00000296575:S568N	ENSP00000296575:S568N	S	+	2	0	HHIP	145859501	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.318000	0.79029	2.817000	0.96982	0.563000	0.77884	AGT		0.333	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			29	9	0	0	0	1	0	29	9				
ADAMTS14	140766	broad.mit.edu	37	10	72489877	72489877	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr10:72489877G>A	ENST00000373207.1	+	6	974	c.974G>A	c.(973-975)cGc>cAc	p.R325H	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.R325H	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	325	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R325H(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTGATCGAGCGCGGGAACCCC	0.652																																						ENST00000373208.1																			1	Substitution - Missense(1)	p.R325H(1)	upper_aerodigestive_tract(1)	NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(973-975)cGc>cAc		ADAM metallopeptidase with thrombospondin type 1 motif, 14							63.0	64.0	64.0					10																	72489877		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72489877G>A	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.974G>A	10.37:g.72489877G>A	ENSP00000362303:p.Arg325His					ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R325H	p.R325H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			6	974	+			325			Peptidase M12B.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.974G>A	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319810	0.60634	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.63255	-0.03;-0.03	4.7	3.78	0.43462	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.065683	0.64402	D	0.000018	T	0.64843	0.2635	L	0.31578	0.945	0.40913	D	0.984248	D;D	0.89917	1.0;1.0	D;D	0.71414	0.959;0.973	T	0.59862	-0.7374	10	0.12766	T	0.61	.	14.1502	0.65378	0.0:0.0:0.8488:0.1512	.	325;325	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	H	325	ENSP00000362304:R325H;ENSP00000362303:R325H	ENSP00000362303:R325H	R	+	2	0	ADAMTS14	72159883	0.999000	0.42202	0.996000	0.52242	0.996000	0.88848	2.682000	0.46934	1.299000	0.44798	0.655000	0.94253	CGC		0.652	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		38	21	0	0	0	1	0	38	21				
RELN	5649	broad.mit.edu	37	7	103155716	103155716	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:103155716C>G	ENST00000428762.1	-	50	8194	c.8035G>C	c.(8035-8037)Gta>Cta	p.V2679L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V2679L|RELN_ENST00000343529.5_Missense_Mutation_p.V2679L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2679					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.V2679L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGCTGGGGTACTGGGGCGCTG	0.552																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			1	Substitution - Missense(1)	p.V2679L(1)	upper_aerodigestive_tract(1)	NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(8035-8037)Gta>Cta		reelin							50.0	45.0	47.0					7																	103155716		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103155716C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8035G>C	7.37:g.103155716C>G	ENSP00000392423:p.Val2679Leu					RELN_ENST00000428762.1_Missense_Mutation_p.V2679L|RELN_ENST00000343529.5_Missense_Mutation_p.V2679L	p.V2679L			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	50	8194	-			2679					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8035G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	9.404	1.078705	0.20227	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.18657	2.2;2.2;2.2	5.26	5.26	0.73747	Neuraminidase (2);	0.068751	0.64402	D	0.000018	T	0.07818	0.0196	N	0.01219	-0.95	0.29096	N	0.881778	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.16217	-1.0410	10	0.22706	T	0.39	.	13.1847	0.59673	0.0:0.7136:0.2864:0.0	.	2679;2679	P78509-2;P78509	.;RELN_HUMAN	L	2679;2679;2679;196;2679	ENSP00000392423:V2679L;ENSP00000345694:V2679L;ENSP00000388446:V2679L	ENSP00000345694:V2679L	V	-	1	0	RELN	102942952	0.105000	0.21958	0.990000	0.47175	0.966000	0.64601	0.392000	0.20801	2.727000	0.93392	0.643000	0.83706	GTA		0.552	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		23	31	0	0	0	1	0	23	31				
HCN1	348980	broad.mit.edu	37	5	45353231	45353231	+	Missense_Mutation	SNP	G	G	A	rs146123836		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr5:45353231G>A	ENST00000303230.4	-	5	1405	c.1348C>T	c.(1348-1350)Ctc>Ttc	p.L450F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	450					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTTCATTGAGAATATTTTCC	0.338																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1348-1350)Ctc>Ttc		hyperpolarization activated cyclic nucleotide-gated potassium channel 1		G	PHE/LEU	0,4406		0,0,2203	131.0	122.0	125.0		1348	6.0	1.0	5	dbSNP_134	125	1,8589	1.2+/-3.3	0,1,4294	no	missense	HCN1	NM_021072.3	22	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	450/891	45353231	1,12995	2203	4295	6498	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353231G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1348C>T	5.37:g.45353231G>A	ENSP00000307342:p.Leu450Phe						p.L450F	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			5	1405	-			450						Missense_Mutation	SNP	ENST00000303230.4	37	c.1348C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411088	0.83340	0.0	1.16E-4	ENSG00000164588	ENST00000303230	D	0.97480	-4.4	5.97	5.97	0.96955	Cyclic nucleotide-binding-like (1);	0.000000	0.64402	D	0.000013	D	0.96442	0.8839	M	0.81802	2.56	0.58432	D	0.999999	P	0.52842	0.956	B	0.41202	0.35	D	0.96531	0.9393	10	0.62326	D	0.03	.	15.4964	0.75653	0.0677:0.0:0.9323:0.0	.	450	O60741	HCN1_HUMAN	F	450	ENSP00000307342:L450F	ENSP00000307342:L450F	L	-	1	0	HCN1	45388988	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.497000	0.73674	2.828000	0.97474	0.655000	0.94253	CTC		0.338	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		37	67	0	0	0	1	0	37	67				
KCNH3	23416	broad.mit.edu	37	12	49942697	49942697	+	Silent	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:49942697C>T	ENST00000257981.6	+	8	1469	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	403					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AGGAGCTGGCCCGCCGACTGG	0.692																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1207-1209)gcC>gcT		potassium voltage-gated channel, subfamily H (eag-related), member 3							7.0	9.0	8.0					12																	49942697		2160	4238	6398	SO:0001819	synonymous_variant	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49942697C>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.1209C>T	12.37:g.49942697C>T							p.A403A	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			8	1469	+			403					Q9UQ06	Silent	SNP	ENST00000257981.6	37	c.1209C>T	CCDS8786.1																																																																																				0.692	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		3	15	0	0	0	1	0	3	15				
NME1	4830	broad.mit.edu	37	17	49237412	49237412	+	Silent	SNP	A	A	G			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:49237412A>G	ENST00000393196.3	+	3	329	c.198A>G	c.(196-198)aaA>aaG	p.K66K	NME1_ENST00000511355.1_Silent_p.K66K|NME2_ENST00000376392.6_Silent_p.K66K|NME1_ENST00000480143.1_Silent_p.K91K|NME1_ENST00000013034.3_Silent_p.K91K|NME1-NME2_ENST00000608447.1_Silent_p.K91K|NME1_ENST00000336097.3_Silent_p.K91K|NME2_ENST00000555572.1_Silent_p.K91K|NME2_ENST00000393193.2_Silent_p.K66K|NME1-NME2_ENST00000393198.3_Silent_p.K66K	NM_000269.2	NP_000260.1	P15531	NDKA_HUMAN	NME/NM23 nucleoside diphosphate kinase 1	66					cellular response to drug (GO:0035690)|cellular response to fatty acid (GO:0071398)|cellular response to glucose stimulus (GO:0071333)|CTP biosynthetic process (GO:0006241)|DNA catabolic process (GO:0006308)|endocytosis (GO:0006897)|GTP biosynthetic process (GO:0006183)|hippocampus development (GO:0021766)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amine (GO:0014075)|response to cAMP (GO:0051591)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|deoxyribonuclease activity (GO:0004536)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|nucleoside diphosphate kinase activity (GO:0004550)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|single-stranded DNA binding (GO:0003697)			endometrium(1)|large_intestine(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		Adefovir Dipivoxil(DB00718)|Lamivudine(DB00709)|Tenofovir(DB00300)	GCCTGGTGAAATACATGCACT	0.488																																					GBM(176;1298 2890 6639 30062)	ENST00000511355.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(196-198)aaA>aaG		NME/NM23 nucleoside diphosphate kinase 1							164.0	135.0	145.0					17																	49237412		2203	4300	6503	SO:0001819	synonymous_variant	4830							g.chr17:49237412A>G	AL360191, X17620	CCDS11578.1, CCDS11579.1	17q21.33	2013-04-29	2012-05-18		ENSG00000239672	ENSG00000239672			7849	protein-coding gene	gene with protein product		156490	"""non-metastatic cells 1, protein (NM23A) expressed in"""			8270257, 19852809	Standard	NM_000269		Approved	NM23, NM23-H1, NDPKA		P15531	OTTHUMG00000137474	ENST00000393196.3:c.198A>G	17.37:g.49237412A>G						NME1_ENST00000336097.3_Silent_p.K91K|NME1_ENST00000393196.3_Silent_p.K66K|NME2_ENST00000376392.6_Silent_p.K66K|NME1_ENST00000480143.1_Silent_p.K91K|NME2_ENST00000393193.2_Silent_p.K66K|NME2_ENST00000555572.1_Silent_p.K91K|NME1_ENST00000013034.3_Silent_p.K91K	p.K66K					BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		3	284	+								Q6FGK3|Q86XQ2|Q9UDJ6	Silent	SNP	ENST00000393196.3	37	c.198A>G	CCDS11579.1																																																																																				0.488	NME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268662.2	NM_000269		70	105	0	0	0	1	0	70	105				
GLB1L3	112937	broad.mit.edu	37	11	134151992	134151992	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:134151992A>G	ENST00000431683.2	+	5	505	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	GLB1L3_ENST00000389887.5_Missense_Mutation_p.M169V	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	169					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGCAGTGAGATGGACCTCGG	0.552																																						ENST00000389887.5																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13						c.(505-507)Atg>Gtg		galactosidase, beta 1-like 3							39.0	38.0	38.0					11																	134151992		2200	4296	6496	SO:0001583	missense	112937				carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr11:134151992A>G		CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.505A>G	11.37:g.134151992A>G	ENSP00000396615:p.Met169Val					GLB1L3_ENST00000431683.2_Missense_Mutation_p.M169V	p.M169V			Q8NCI6	GLBL3_HUMAN		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)	5	3001	+	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)	169					A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	ENST00000431683.2	37	c.505A>G	CCDS44780.1	.	.	.	.	.	.	.	.	.	.	A	12.11	1.840503	0.32513	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97811	-4.55;-4.55	4.3	-2.61	0.06171	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.86606	0.5973	N	0.00707	-1.245	0.19300	N	0.999977	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.81232	-0.1026	9	0.44086	T	0.13	.	3.2327	0.06754	0.3364:0.0:0.2823:0.3814	.	169;169	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	V	169	ENSP00000374537:M169V;ENSP00000396615:M169V	ENSP00000374537:M169V	M	+	1	0	GLB1L3	133657202	0.998000	0.40836	0.379000	0.26080	0.899000	0.52679	0.606000	0.24194	-0.227000	0.09884	0.482000	0.46254	ATG		0.552	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393625.1	NM_138416		11	6	0	0	0	1	0	11	6				
L3MBTL3	84456	broad.mit.edu	37	6	130415450	130415450	+	Silent	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:130415450C>T	ENST00000529410.1	+	20	2153	c.1674C>T	c.(1672-1674)tgC>tgT	p.C558C	L3MBTL3_ENST00000368139.2_Silent_p.C533C|L3MBTL3_ENST00000361794.2_Silent_p.C558C|L3MBTL3_ENST00000533560.1_Silent_p.C533C|L3MBTL3_ENST00000368136.2_Silent_p.C558C|L3MBTL3_ENST00000526019.1_Silent_p.C533C			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	558					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		ATGGTGGATGCTCAACCCCGG	0.448																																						ENST00000529410.1																			0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43						c.(1672-1674)tgC>tgT		l(3)mbt-like 3 (Drosophila)							82.0	80.0	81.0					6																	130415450		2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130415450C>T	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1674C>T	6.37:g.130415450C>T						L3MBTL3_ENST00000368139.2_Silent_p.C533C|L3MBTL3_ENST00000533560.1_Silent_p.C533C|L3MBTL3_ENST00000361794.2_Silent_p.C558C|L3MBTL3_ENST00000526019.1_Silent_p.C533C|L3MBTL3_ENST00000368136.2_Silent_p.C558C	p.C558C			Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	20	2153	+			558					Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.1674C>T	CCDS34537.1																																																																																				0.448	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		23	28	0	0	0	1	0	23	28				
ZNF479	90827	broad.mit.edu	37	7	57193797	57193797	+	Silent	SNP	A	A	G			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:57193797A>G	ENST00000331162.4	-	4	460	c.190T>C	c.(190-192)Ttg>Ctg	p.L64L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CAGGTGATCAAGTCTGGCTTA	0.368																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(190-192)Ttg>Ctg		zinc finger protein 479							41.0	45.0	43.0					7																	57193797		1835	3903	5738	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57193797A>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.190T>C	7.37:g.57193797A>G							p.L64L	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		4	460	-			64			KRAB.			Silent	SNP	ENST00000331162.4	37	c.190T>C	CCDS43590.1																																																																																				0.368	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		39	104	0	0	0	1	0	39	104				
C17orf104	284071	broad.mit.edu	37	17	42745255	42745255	+	Missense_Mutation	SNP	G	G	A	rs376006001		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:42745255G>A	ENST00000409122.2	+	5	2118	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	C17orf104_ENST00000409464.1_Missense_Mutation_p.R493H|C17orf104_ENST00000359945.3_Missense_Mutation_p.R659H	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	659										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						CGTGTGAATCGCACACAAGTG	0.398																																						ENST00000409122.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						c.(1975-1977)cGc>cAc		chromosome 17 open reading frame 104		G	HIS/ARG	0,4406		0,0,2203	74.0	74.0	74.0		1976	4.7	1.0	17		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	C17orf104	NM_001145080.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	659/953	42745255	1,13005	2203	4300	6503	SO:0001583	missense	284071							g.chr17:42745255G>A		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1976G>A	17.37:g.42745255G>A	ENSP00000386452:p.Arg659His					C17orf104_ENST00000409464.1_Missense_Mutation_p.R493H|C17orf104_ENST00000359945.3_Missense_Mutation_p.R659H	p.R659H	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN			5	2118	+			659					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	ENST00000409122.2	37	c.1976G>A	CCDS45703.2	.	.	.	.	.	.	.	.	.	.	G	8.740	0.918677	0.17982	0.0	1.16E-4	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.33438	1.41;1.41;1.42	5.66	4.69	0.59074	.	0.199601	0.44483	D	0.000451	T	0.19967	0.0480	N	0.22421	0.69	0.29045	N	0.884886	B;B;B	0.13145	0.007;0.007;0.002	B;B;B	0.09377	0.004;0.002;0.002	T	0.11060	-1.0603	10	0.25106	T	0.35	-36.0926	11.2157	0.48825	0.1472:0.0:0.8528:0.0	.	659;659;493	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	H	659;659;493	ENSP00000353028:R659H;ENSP00000386452:R659H;ENSP00000386586:R493H	ENSP00000353028:R659H	R	+	2	0	C17orf104	40100781	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	2.820000	0.48057	1.388000	0.46506	0.655000	0.94253	CGC		0.398	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		26	32	0	0	0	1	0	26	32				
AMD1	262	broad.mit.edu	37	6	111214719	111214719	+	Missense_Mutation	SNP	T	T	C	rs201905478		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:111214719T>C	ENST00000368885.3	+	9	1241	c.905T>C	c.(904-906)aTt>aCt	p.I302T	AMD1_ENST00000451850.2_Missense_Mutation_p.I182T|AMD1_ENST00000368877.5_Missense_Mutation_p.I273T|AMD1_ENST00000368876.1_Missense_Mutation_p.I233T|AMD1_ENST00000368882.3_Missense_Mutation_p.I154T	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	302					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CCCCAGAAGATTGAAGGTTTT	0.388													T|||	1	0.000199681	0.0	0.0	5008	,	,		20687	0.001		0.0	False		,,,				2504	0.0					ENST00000368885.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8						c.(904-906)aTt>aCt		adenosylmethionine decarboxylase 1	S-Adenosylmethionine(DB00118)						116.0	108.0	111.0					6																	111214719		2203	4300	6503	SO:0001583	missense	262				spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity	g.chr6:111214719T>C	M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.905T>C	6.37:g.111214719T>C	ENSP00000357880:p.Ile302Thr					AMD1_ENST00000451850.2_Missense_Mutation_p.I182T|AMD1_ENST00000368882.3_Missense_Mutation_p.I154T|AMD1_ENST00000368877.5_Missense_Mutation_p.I273T|AMD1_ENST00000368876.1_Missense_Mutation_p.I233T	p.I302T	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	9	1241	+		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)	302					E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	ENST00000368885.3	37	c.905T>C	CCDS5086.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	16.90	3.249533	0.59212	.	.	ENSG00000123505	ENST00000368885;ENST00000368882;ENST00000451850;ENST00000368877;ENST00000368876	.	.	.	5.88	5.88	0.94601	S-adenosylmethionine decarboxylase, core (2);	0.232964	0.44688	D	0.000427	T	0.75302	0.3831	M	0.82323	2.585	0.58432	D	0.999999	P;B;B	0.40144	0.704;0.244;0.411	P;B;P	0.52823	0.71;0.164;0.607	T	0.77531	-0.2553	9	0.51188	T	0.08	.	16.2762	0.82644	0.0:0.0:0.0:1.0	.	182;273;302	B4DZ60;A6NNH3;P17707	.;.;DCAM_HUMAN	T	302;154;182;273;233	.	ENSP00000357870:I233T	I	+	2	0	AMD1	111321412	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.539000	0.82063	2.243000	0.73865	0.482000	0.46254	ATT		0.388	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1			60	62	0	0	0	1	0	60	62				
VAX2	25806	broad.mit.edu	37	2	71160180	71160180	+	Missense_Mutation	SNP	C	C	A	rs140956448	byFrequency	TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr2:71160180C>A	ENST00000234392.2	+	3	751	c.719C>A	c.(718-720)cCa>cAa	p.P240Q	snoU13_ENST00000459218.1_RNA|ATP6V1B1_ENST00000412314.1_5'Flank|ATP6V1B1_ENST00000234396.4_5'Flank	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	240					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						GCGTCCCCCCCACTGCCGCCC	0.682													C|||	5	0.000998403	0.0008	0.0	5008	,	,		12297	0.0		0.004	False		,,,				2504	0.0					ENST00000234392.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(718-720)cCa>cAa		ventral anterior homeobox 2		C	GLN/PRO	2,4404	4.2+/-10.8	0,2,2201	21.0	24.0	23.0		719	4.0	0.1	2	dbSNP_134	23	45,8553	24.0+/-70.4	0,45,4254	yes	missense	VAX2	NM_012476.2	76	0,47,6455	AA,AC,CC		0.5234,0.0454,0.3614	benign	240/291	71160180	47,12957	2203	4299	6502	SO:0001583	missense	25806				ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:71160180C>A	Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.719C>A	2.37:g.71160180C>A	ENSP00000234392:p.Pro240Gln						p.P240Q	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN			3	751	+			240					Q53Y33	Missense_Mutation	SNP	ENST00000234392.2	37	c.719C>A	CCDS1911.1	5	0.0022893772893772895	0	0.0	0	0.0	0	0.0	5	0.006596306068601583	C	5.471	0.271878	0.10349	4.54E-4	0.005234	ENSG00000116035	ENST00000234392	D	0.92048	-2.96	4.96	4.02	0.46733	.	0.126553	0.49916	D	0.000130	T	0.79919	0.4529	L	0.27053	0.805	0.09310	N	1	B	0.21905	0.062	B	0.19148	0.024	T	0.68914	-0.5283	10	0.31617	T	0.26	-20.9582	7.8832	0.29635	0.0:0.7215:0.1796:0.099	.	240	Q9UIW0	VAX2_HUMAN	Q	240	ENSP00000234392:P240Q	ENSP00000234392:P240Q	P	+	2	0	VAX2	71013688	0.010000	0.17322	0.071000	0.20095	0.123000	0.20343	1.379000	0.34340	2.293000	0.77203	0.313000	0.20887	CCA		0.682	VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1			4	44	1	0	0.00909568	1	0.00918314	4	44				
EXOC7	23265	broad.mit.edu	37	17	74097810	74097810	+	Silent	SNP	G	G	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:74097810G>T	ENST00000335146.7	-	3	314	c.261C>A	c.(259-261)gtC>gtA	p.V87V	EXOC7_ENST00000405575.4_Silent_p.V87V|EXOC7_ENST00000406660.3_Silent_p.V87V|EXOC7_ENST00000607838.1_Silent_p.V87V|EXOC7_ENST00000411744.2_Silent_p.V87V|EXOC7_ENST00000332065.5_Silent_p.V87V|EXOC7_ENST00000589210.1_Silent_p.V87V|EXOC7_ENST00000467929.2_Silent_p.V46V			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	87					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGTAGCTGATGACATGGTCCA	0.547																																						ENST00000607838.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(259-261)gtC>gtA		exocyst complex component 7							148.0	124.0	132.0					17																	74097810		2203	4300	6503	SO:0001819	synonymous_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74097810G>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.261C>A	17.37:g.74097810G>T						EXOC7_ENST00000467929.2_Silent_p.V46V|EXOC7_ENST00000411744.2_Silent_p.V87V|EXOC7_ENST00000406660.3_Silent_p.V87V|EXOC7_ENST00000405575.4_Silent_p.V87V|EXOC7_ENST00000335146.7_Silent_p.V87V|EXOC7_ENST00000332065.5_Silent_p.V87V|EXOC7_ENST00000589210.1_Silent_p.V87V	p.V87V	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		3	355	-			87					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Silent	SNP	ENST00000335146.7	37	c.261C>A	CCDS45782.1																																																																																				0.547	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	NM_015219		67	99	1	0	1.08241e-25	1	1.22207e-25	67	99				
UBR2	23304	broad.mit.edu	37	6	42608004	42608004	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:42608004C>T	ENST00000372899.1	+	16	2174	c.1916C>T	c.(1915-1917)cCt>cTt	p.P639L	UBR2_ENST00000372901.1_Missense_Mutation_p.P639L|UBR2_ENST00000372883.3_Missense_Mutation_p.P143L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	639					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGCTCCTACCTCTAGTAAGT	0.303																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(1915-1917)cCt>cTt		ubiquitin protein ligase E3 component n-recognin 2							87.0	93.0	91.0					6																	42608004		2203	4299	6502	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42608004C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1916C>T	6.37:g.42608004C>T	ENSP00000361990:p.Pro639Leu					UBR2_ENST00000372883.3_Missense_Mutation_p.P143L|UBR2_ENST00000372901.1_Missense_Mutation_p.P639L	p.P639L	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		16	2174	+	Colorectal(47;0.196)		639					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.1916C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559437	0.86335	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.47177	0.85;0.85;0.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	L	0.27053	0.805	0.80722	D	1	D;B;D	0.89917	1.0;0.038;1.0	D;B;D	0.91635	0.999;0.014;0.999	T	0.20940	-1.0260	10	0.09590	T	0.72	-0.9805	18.9995	0.92828	0.0:1.0:0.0:0.0	.	639;639;143	Q8IWV8-4;Q8IWV8;Q8IWV8-3	.;UBR2_HUMAN;.	L	639;639;143	ENSP00000361990:P639L;ENSP00000361992:P639L;ENSP00000361974:P143L	ENSP00000361974:P143L	P	+	2	0	UBR2	42715982	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.496000	0.73670	2.475000	0.83589	0.460000	0.39030	CCT		0.303	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		18	27	0	0	0	1	0	18	27				
SLC14A2	8170	broad.mit.edu	37	18	43262351	43262351	+	Missense_Mutation	SNP	A	A	T	rs568661995		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr18:43262351A>T	ENST00000255226.6	+	20	3446	c.2630A>T	c.(2629-2631)aAt>aTt	p.N877I	SLC14A2_ENST00000589658.1_Missense_Mutation_p.N354I|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.N877I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	877					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)	p.N877I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGACGACCAATAACCCCGCC	0.542																																						ENST00000255226.6																			1	Substitution - Missense(1)	p.N877I(1)	upper_aerodigestive_tract(1)	NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2629-2631)aAt>aTt		solute carrier family 14 (urea transporter), member 2							289.0	278.0	282.0					18																	43262351		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43262351A>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2630A>T	18.37:g.43262351A>T	ENSP00000255226:p.Asn877Ile					RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.N877I|SLC14A2_ENST00000589658.1_Missense_Mutation_p.N354I	p.N877I	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN			20	3446	+			877					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2630A>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.433885	0.62955	.	.	ENSG00000132874	ENST00000255226	T	0.51325	0.71	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000009	T	0.63355	0.2504	M	0.79475	2.455	0.80722	D	1	D	0.61697	0.99	D	0.67103	0.949	T	0.65717	-0.6100	10	0.48119	T	0.1	-27.1587	6.7421	0.23441	0.7636:0.1551:0.0813:0.0	.	877	Q15849	UT2_HUMAN	I	877	ENSP00000255226:N877I	ENSP00000255226:N877I	N	+	2	0	SLC14A2	41516349	0.991000	0.36638	1.000000	0.80357	0.991000	0.79684	2.967000	0.49216	1.936000	0.56123	0.459000	0.35465	AAT		0.542	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			151	64	0	0	0	1	0	151	64				
ASH1L	55870	broad.mit.edu	37	1	155449890	155449890	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:155449890G>C	ENST00000368346.3	-	3	3410	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C	ASH1L_ENST00000392403.3_Missense_Mutation_p.S924C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	924					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.S924C(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTCACTTTCAGATTCTAGCTT	0.473																																						ENST00000368346.3																			1	Substitution - Missense(1)	p.S924C(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(2770-2772)tCt>tGt		ash1 (absent, small, or homeotic)-like (Drosophila)							157.0	150.0	153.0					1																	155449890		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449890G>C	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2771C>G	1.37:g.155449890G>C	ENSP00000357330:p.Ser924Cys					ASH1L_ENST00000392403.3_Missense_Mutation_p.S924C	p.S924C			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3410	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		924					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2771C>G		.	.	.	.	.	.	.	.	.	.	G	13.32	2.201276	0.38905	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89617	-2.54;-2.54	5.31	4.39	0.52855	.	0.202773	0.35555	N	0.003138	T	0.69324	0.3098	N	0.08118	0	0.80722	D	1	B;B	0.10296	0.002;0.003	B;B	0.12156	0.003;0.007	T	0.67074	-0.5762	10	0.48119	T	0.1	.	15.7418	0.77905	0.0:0.137:0.863:0.0	.	924;924	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	C	924	ENSP00000357330:S924C;ENSP00000376204:S924C	ENSP00000357330:S924C	S	-	2	0	ASH1L	153716514	0.993000	0.37304	0.996000	0.52242	0.995000	0.86356	3.614000	0.54160	1.449000	0.47699	0.650000	0.86243	TCT		0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		109	114	0	0	0	1	0	109	114				
TEX15	56154	broad.mit.edu	37	8	30703211	30703211	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:30703211C>A	ENST00000256246.2	-	1	3397	c.3323G>T	c.(3322-3324)aGt>aTt	p.S1108I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1108	Ser-rich.				fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1108I(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTAGCCATACTTTTCCTAGA	0.393																																						ENST00000256246.2																			1	Substitution - Missense(1)	p.S1108I(1)	upper_aerodigestive_tract(1)	NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(3322-3324)aGt>aTt		testis expressed 15							86.0	80.0	82.0					8																	30703211		2202	4300	6502	SO:0001583	missense	56154							g.chr8:30703211C>A	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3323G>T	8.37:g.30703211C>A	ENSP00000256246:p.Ser1108Ile						p.S1108I	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3397	-			1108			Ser-rich.			Missense_Mutation	SNP	ENST00000256246.2	37	c.3323G>T	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	C	4.151	0.026444	0.08054	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	5.83	-0.592	0.11671	.	0.946387	0.08890	N	0.878799	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B	0.19706	0.038	B	0.16289	0.015	T	0.40942	-0.9536	10	0.87932	D	0	.	1.2683	0.02016	0.1725:0.371:0.1631:0.2933	.	1108	Q9BXT5	TEX15_HUMAN	I	1108	ENSP00000256246:S1108I	ENSP00000256246:S1108I	S	-	2	0	TEX15	30822753	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-0.178000	0.09782	-0.060000	0.13132	0.563000	0.77884	AGT		0.393	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			41	65	1	0	6.33695e-27	1	7.23239e-27	41	65				
NOX5	79400	broad.mit.edu	37	15	69347794	69347794	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr15:69347794C>T	ENST00000388866.3	+	15	2161	c.2120C>T	c.(2119-2121)aCg>aTg	p.T707M	NOX5_ENST00000455873.3_Missense_Mutation_p.T672M|NOX5_ENST00000530406.2_Missense_Mutation_p.T679M|NOX5_ENST00000260364.5_Missense_Mutation_p.T689M|NOX5_ENST00000448182.3_Missense_Mutation_p.T661M	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	707					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GACTCCATCACGGGGCTGCAG	0.577																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2065-2067)aCg>aTg		NADPH oxidase, EF-hand calcium binding domain 5							46.0	47.0	47.0					15																	69347794		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69347794C>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2120C>T	15.37:g.69347794C>T	ENSP00000373518:p.Thr707Met					NOX5_ENST00000530406.2_Missense_Mutation_p.T679M|NOX5_ENST00000448182.3_Missense_Mutation_p.T661M|NOX5_ENST00000388866.3_Missense_Mutation_p.T707M|NOX5_ENST00000455873.3_Missense_Mutation_p.T672M	p.T689M			Q96PH1	NOX5_HUMAN			16	2367	+			707					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2066C>T	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905442	0.33628	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.95821	-3.82;-3.82;-3.82	3.68	1.75	0.24633	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.94542	3.55	0.49130	D	0.999759	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70227	0.961;0.968;0.947	D	0.96155	0.9111	10	0.87932	D	0	-8.9756	7.0758	0.25203	0.0:0.7242:0.1754:0.1004	.	672;707;679	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	M	672;689;707;679	ENSP00000416828:T672M;ENSP00000373518:T707M;ENSP00000432440:T679M	ENSP00000373518:T707M	T	+	2	0	NOX5	67134848	0.965000	0.33210	0.247000	0.24249	0.097000	0.18754	1.956000	0.40382	0.247000	0.21414	0.205000	0.17691	ACG		0.577	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		32	27	0	0	0	1	0	32	27				
LTBP1	4052	broad.mit.edu	37	2	33590472	33590472	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr2:33590472G>A	ENST00000404816.2	+	31	4966	c.4613G>A	c.(4612-4614)cGg>cAg	p.R1538Q	LTBP1_ENST00000390003.4_Missense_Mutation_p.R1213Q|LTBP1_ENST00000404525.1_Missense_Mutation_p.R1159Q|LTBP1_ENST00000402934.1_Missense_Mutation_p.R1157Q|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1539Q|LTBP1_ENST00000272273.5_Missense_Mutation_p.R436Q|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1212Q|LTBP1_ENST00000418533.2_Missense_Mutation_p.R1170Q			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1538	TB 4.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGTGTAGCCGGCCTCTTGTG	0.498																																						ENST00000404816.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(4612-4614)cGg>cAg		latent transforming growth factor beta binding protein 1							134.0	127.0	129.0					2																	33590472		2203	4300	6503	SO:0001583	missense	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33590472G>A		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4613G>A	2.37:g.33590472G>A	ENSP00000386043:p.Arg1538Gln					LTBP1_ENST00000272273.5_Missense_Mutation_p.R436Q|LTBP1_ENST00000407925.1_Missense_Mutation_p.R1212Q|LTBP1_ENST00000418533.2_Missense_Mutation_p.R1170Q|LTBP1_ENST00000390003.4_Missense_Mutation_p.R1213Q|LTBP1_ENST00000354476.3_Missense_Mutation_p.R1539Q|LTBP1_ENST00000404525.1_Missense_Mutation_p.R1159Q|LTBP1_ENST00000402934.1_Missense_Mutation_p.R1157Q	p.R1538Q			Q14766	LTBP1_HUMAN			31	4966	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1538			TB 4.		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	37	c.4613G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	9.305	1.054102	0.19907	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05	5.67	5.67	0.87782	Matrix fibril-associated (3);TGF-beta binding (1);	.	.	.	.	T	0.75860	0.3907	N	0.02181	-0.65	0.37628	D	0.921555	B;P;B;B;P;B;P	0.47841	0.338;0.901;0.277;0.068;0.653;0.448;0.88	B;B;B;B;B;B;B	0.37888	0.048;0.26;0.029;0.017;0.139;0.087;0.169	T	0.80717	-0.1258	9	0.07482	T	0.82	.	13.0205	0.58784	0.0731:0.0:0.9269:0.0	.	436;1538;1170;1159;1212;1213;1539	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	Q	1538;1539;1213;1170;1157;1159;1212;436	ENSP00000386043:R1538Q;ENSP00000346467:R1539Q;ENSP00000374653:R1213Q;ENSP00000393057:R1170Q;ENSP00000384373:R1157Q;ENSP00000385359:R1159Q;ENSP00000384091:R1212Q;ENSP00000272273:R436Q	ENSP00000272273:R436Q	R	+	2	0	LTBP1	33443976	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	2.366000	0.44204	2.677000	0.91161	0.655000	0.94253	CGG		0.498	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		37	27	0	0	0	1	0	37	27				
HOMER3	9454	broad.mit.edu	37	19	19049612	19049612	+	Silent	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr19:19049612C>T	ENST00000539827.1	-	2	748	c.96G>A	c.(94-96)aaG>aaA	p.K32K	HOMER3_ENST00000542541.2_Silent_p.K32K|HOMER3_ENST00000594439.1_Silent_p.K32K|HOMER3_ENST00000355887.6_Silent_p.K32K|HOMER3_ENST00000594794.1_Intron|AC005932.1_ENST00000601106.1_RNA|HOMER3_ENST00000433218.2_Silent_p.K32K|HOMER3_ENST00000221222.11_Silent_p.K32K|HOMER3_ENST00000392351.3_Silent_p.K32K			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	32	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TGAGTGCGTGCTTGCCCGCTG	0.607																																						ENST00000539827.1																			0				endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						c.(94-96)aaG>aaA		homer homolog 3 (Drosophila)							91.0	66.0	74.0					19																	19049612		2202	4299	6501	SO:0001819	synonymous_variant	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19049612C>T	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.96G>A	19.37:g.19049612C>T						HOMER3_ENST00000392351.3_Silent_p.K32K|HOMER3_ENST00000355887.6_Silent_p.K32K|HOMER3_ENST00000542541.2_Silent_p.K32K|HOMER3_ENST00000594439.1_Silent_p.K32K|HOMER3_ENST00000221222.11_Silent_p.K32K|HOMER3_ENST00000433218.2_Silent_p.K32K|HOMER3_ENST00000594794.1_Intron	p.K32K			Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		2	748	-			32			WH1.		E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Silent	SNP	ENST00000539827.1	37	c.96G>A	CCDS12391.1																																																																																				0.607	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			9	9	0	0	0	1	0	9	9				
ELTD1	64123	broad.mit.edu	37	1	79387450	79387450	+	Silent	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:79387450G>A	ENST00000370742.3	-	9	1168	c.1105C>T	c.(1105-1107)Cta>Tta	p.L369L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	369	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATGCACATAGACTCCTATAC	0.378																																						ENST00000370742.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(1105-1107)Cta>Tta		EGF, latrophilin and seven transmembrane domain containing 1							112.0	105.0	107.0					1																	79387450		1935	4131	6066	SO:0001819	synonymous_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79387450G>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1105C>T	1.37:g.79387450G>A							p.L369L	NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	9	1168	-			369			GPS.		B1AR71|Q5KU34	Silent	SNP	ENST00000370742.3	37	c.1105C>T	CCDS41352.1																																																																																				0.378	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		27	8	0	0	0	1	0	27	8				
CCR4	1233	broad.mit.edu	37	3	32995557	32995557	+	Silent	SNP	T	T	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:32995557T>C	ENST00000330953.5	+	2	811	c.643T>C	c.(643-645)Tta>Cta	p.L215L		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	215					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuron migration (GO:0001764)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of positive chemotaxis (GO:0050927)|response to antibiotic (GO:0046677)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)|tolerance induction (GO:0002507)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						GGTGATCCCCTTAGGGATCAT	0.473																																						ENST00000330953.5																			0				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						c.(643-645)Tta>Cta		chemokine (C-C motif) receptor 4							140.0	126.0	131.0					3																	32995557		2203	4300	6503	SO:0001819	synonymous_variant	1233				chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane		g.chr3:32995557T>C	X85740	CCDS2656.1	3p24-p21.3	2012-08-08			ENSG00000183813	ENSG00000183813		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1605	protein-coding gene	gene with protein product		604836				7642634, 8884276	Standard	NM_005508		Approved	CC-CKR-4, CMKBR4, CKR4, k5-5, ChemR13, CD194	uc003cfg.1	P51679	OTTHUMG00000130752	ENST00000330953.5:c.643T>C	3.37:g.32995557T>C							p.L215L	NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN			2	811	+			215					Q9ULY6|Q9ULY7	Silent	SNP	ENST00000330953.5	37	c.643T>C	CCDS2656.1																																																																																				0.473	CCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253252.2			92	22	0	0	0	1	0	92	22				
RPL32P3	132241	broad.mit.edu	37	3	129115896	129115896	+	RNA	SNP	T	T	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:129115896T>C	ENST00000514355.1	-	0	499				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						GATTTTGACATATCGGTCTGA	0.493																																						ENST00000514355.1																			0				lung(1)	1																																														132241							g.chr3:129115896T>C	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129115896T>C														0	499	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.493	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			183	274	0	0	0	1	0	183	274				
RASAL1	8437	broad.mit.edu	37	12	113559376	113559376	+	Silent	SNP	C	C	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:113559376C>A	ENST00000261729.5	-	6	681	c.366G>T	c.(364-366)ctG>ctT	p.L122L	RASAL1_ENST00000546530.1_Silent_p.L122L|RASAL1_ENST00000446861.3_Silent_p.L122L|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.L122L			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	122	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCTGCACTGACAGGCAGATCT	0.567																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(364-366)ctG>ctT		RAS protein activator like 1 (GAP1 like)							122.0	94.0	103.0					12																	113559376		2203	4300	6503	SO:0001819	synonymous_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113559376C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.366G>T	12.37:g.113559376C>A						RASAL1_ENST00000261729.5_Silent_p.L122L|RASAL1_ENST00000446861.3_Silent_p.L122L|RASAL1_ENST00000548055.1_Silent_p.L122L|RASAL1_ENST00000418411.2_5'UTR	p.L122L	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			6	651	-			122			C2 2.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Silent	SNP	ENST00000261729.5	37	c.366G>T	CCDS9165.1																																																																																				0.567	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		45	41	1	0	1.6237e-14	1	1.77592e-14	45	41				
NMD3	51068	broad.mit.edu	37	3	160942823	160942823	+	Silent	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:160942823C>T	ENST00000460469.1	+	2	605	c.150C>T	c.(148-150)gtC>gtT	p.V50V	NMD3_ENST00000478160.1_Intron|NMD3_ENST00000472947.1_Silent_p.V50V|NMD3_ENST00000351193.2_Silent_p.V50V			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	50					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			CGAAACAAGTCTCGATTTCGT	0.418																																						ENST00000460469.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25						c.(148-150)gtC>gtT		NMD3 ribosome export adaptor							197.0	187.0	190.0					3																	160942823		2203	4300	6503	SO:0001819	synonymous_variant	51068				protein transport	cytoplasm|nucleolus|nucleoplasm		g.chr3:160942823C>T	BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.150C>T	3.37:g.160942823C>T						NMD3_ENST00000351193.2_Silent_p.V50V|NMD3_ENST00000472947.1_Silent_p.V50V|NMD3_ENST00000478160.1_Intron	p.V50V			Q96D46	NMD3_HUMAN	Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)		2	605	+			50					D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	c.150C>T	CCDS3194.1																																																																																				0.418	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938		57	130	0	0	0	1	0	57	130				
SYNPO2	171024	broad.mit.edu	37	4	119951816	119951816	+	Missense_Mutation	SNP	C	C	A	rs372370554		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr4:119951816C>A	ENST00000429713.2	+	4	2068	c.1886C>A	c.(1885-1887)cCt>cAt	p.P629H	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P629H|SYNPO2_ENST00000307142.4_Missense_Mutation_p.P629H	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	629	Pro-rich.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTCCTCCCCCTGACGCCTTC	0.607																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1885-1887)cCt>cAt		synaptopodin 2							92.0	85.0	87.0					4																	119951816		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119951816C>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.1886C>A	4.37:g.119951816C>A	ENSP00000395143:p.Pro629His					SYNPO2_ENST00000429713.2_Missense_Mutation_p.P629H|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P629H|SYNPO2_ENST00000448416.2_Intron	p.P629H	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			4	2082	+			629			Pro-rich.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.1886C>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	C	9.783	1.175805	0.21704	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.10860	2.83;2.86;2.86	5.42	4.44	0.53790	.	0.090123	0.49305	D	0.000157	T	0.27313	0.0670	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.998;0.998	T	0.00657	-1.1623	9	.	.	.	-12.4663	10.2051	0.43107	0.0:0.8863:0.0:0.1137	.	629;629;629;629	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	H	629	ENSP00000306015:P629H;ENSP00000395143:P629H;ENSP00000390965:P629H	.	P	+	2	0	SYNPO2	120171264	0.739000	0.28196	0.094000	0.20943	0.007000	0.05969	2.512000	0.45485	1.025000	0.39708	0.655000	0.94253	CCT		0.607	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			57	24	1	0	1.70232e-10	1	1.84271e-10	57	24				
RPL12P38	645688	broad.mit.edu	37	17	58512697	58512697	+	RNA	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:58512697G>A	ENST00000588627.1	-	0	660									ribosomal protein L12 pseudogene 38																		TCCGGCTTTGGAAAAGCAGGT	0.507																																						ENST00000588627.1																			0																																																			645688							g.chr17:58512697G>A			17q23.2	2013-01-23			ENSG00000213228	ENSG00000213228			36838	pseudogene	pseudogene						19123937	Standard	NG_010298		Approved				OTTHUMG00000157897		17.37:g.58512697G>A														0	660	-									RNA	SNP	ENST00000588627.1	37																																																																																						0.507	RPL12P38-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000449464.1	NG_010298		19	19	0	0	0	1	0	19	19				
SLC35F5	80255	broad.mit.edu	37	2	114482997	114482997	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr2:114482997T>C	ENST00000245680.2	-	12	1621	c.1208A>G	c.(1207-1209)aAt>aGt	p.N403S	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	403					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AATAAGGCCATTAATGATAAT	0.338																																						ENST00000245680.2																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						c.(1207-1209)aAt>aGt		solute carrier family 35, member F5							106.0	101.0	103.0					2																	114482997		2203	4300	6503	SO:0001583	missense	80255				transport	integral to membrane		g.chr2:114482997T>C	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.1208A>G	2.37:g.114482997T>C	ENSP00000245680:p.Asn403Ser					SLC35F5_ENST00000470204.2_5'UTR	p.N403S	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN			12	1621	-			403					Q9H6P8|Q9H7D8	Missense_Mutation	SNP	ENST00000245680.2	37	c.1208A>G	CCDS2119.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.142842	0.77888	.	.	ENSG00000115084	ENST00000245680;ENST00000409106	T;T	0.50277	0.75;0.75	6.07	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.47985	0.1475	M	0.79693	2.465	0.80722	D	1	B	0.10296	0.003	B	0.08055	0.003	T	0.42682	-0.9437	10	0.15952	T	0.53	-19.84	11.9395	0.52892	0.0:0.0673:0.0:0.9327	.	403	Q8WV83	S35F5_HUMAN	S	403;397	ENSP00000245680:N403S;ENSP00000386754:N397S	ENSP00000245680:N403S	N	-	2	0	SLC35F5	114199467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.494000	0.81503	1.123000	0.41961	0.533000	0.62120	AAT		0.338	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		58	47	0	0	0	1	0	58	47				
FARS2	10667	broad.mit.edu	37	6	5613479	5613479	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:5613479C>G	ENST00000324331.6	+	6	1479	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	FARS2_ENST00000274680.4_Missense_Mutation_p.F381L			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	381	FDX-ACB. {ECO:0000255|PROSITE- ProRule:PRU00778}.				gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AAAATGATTTCTATGACTTAG	0.383																																						ENST00000324331.6																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15						c.(1141-1143)ttC>ttG		phenylalanyl-tRNA synthetase 2, mitochondrial	L-Phenylalanine(DB00120)						135.0	129.0	131.0					6																	5613479		2203	4300	6503	SO:0001583	missense	10667				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding	g.chr6:5613479C>G	AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.1143C>G	6.37:g.5613479C>G	ENSP00000316335:p.Phe381Leu					FARS2_ENST00000274680.4_Missense_Mutation_p.F381L	p.F381L			O95363	SYFM_HUMAN			6	1479	+	Ovarian(93;0.11)	all_hematologic(90;0.0104)	381			FDX-ACB.		B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	c.1143C>G	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774966	0.70107	.	.	ENSG00000145982	ENST00000274680;ENST00000324331	T;T	0.72835	-0.69;-0.69	5.53	5.53	0.82687	Phenylalanyl-tRNA synthetase, beta subunit, ferrodoxin-fold anticodon-binding (5);	0.061993	0.64402	D	0.000003	T	0.73885	0.3644	L	0.42686	1.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68492	-0.5394	10	0.23891	T	0.37	-9.2999	18.4818	0.90815	0.0:1.0:0.0:0.0	.	381	O95363	SYFM_HUMAN	L	381	ENSP00000274680:F381L;ENSP00000316335:F381L	ENSP00000274680:F381L	F	+	3	2	FARS2	5558478	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.426000	0.66476	2.605000	0.88082	0.655000	0.94253	TTC		0.383	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567		20	61	0	0	0	1	0	20	61				
SLC25A6	293	broad.mit.edu	37	X	1506193	1506193	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chrX:1506193T>A	ENST00000381401.5	-	3	1432	c.718A>T	c.(718-720)Atg>Ttg	p.M240L	SLC25A6_ENST00000475167.1_5'Flank	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	240					active induction of host immune response by virus (GO:0046732)|ADP transport (GO:0015866)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|modulation by virus of host morphology or physiology (GO:0019048)|protein targeting to mitochondrion (GO:0006626)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP:ADP antiporter activity (GO:0005471)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CCGGACTGCATCATCATGCGC	0.677																																						ENST00000381401.5																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11						c.(718-720)Atg>Ttg		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	Clodronate(DB00720)						87.0	88.0	88.0					X																	1506193		2203	4296	6499	SO:0001583	missense	293				active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding	g.chrX:1506193T>A	AY007135	CCDS14114.1	Xp22.32 and Yp11.3	2013-05-22			ENSG00000169100	ENSG00000169100		"""Pseudoautosomal regions / PAR1"", ""Solute carriers"""	10992	protein-coding gene	gene with protein product		300151, 403000		ANT3			Standard	NM_001636		Approved	ANT3Y, MGC17525	uc004cpt.3	P12236	OTTHUMG00000021058	ENST00000381401.5:c.718A>T	X.37:g.1506193T>A	ENSP00000370808:p.Met240Leu						p.M240L	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN			3	1432	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	240					Q96C49	Missense_Mutation	SNP	ENST00000381401.5	37	c.718A>T	CCDS14114.1	.	.	.	.	.	.	.	.	.	.	.	13.63	2.293942	0.40594	.	.	ENSG00000169100	ENST00000381401	T	0.76839	-1.05	1.87	1.87	0.25490	Mitochondrial carrier domain (2);	0.000000	0.64402	U	0.000002	T	0.76835	0.4043	M	0.69823	2.125	0.09310	N	1	B	0.26935	0.164	B	0.36244	0.22	T	0.71915	-0.4448	10	0.87932	D	0	.	9.5023	0.39026	0.0:0.0:0.0:1.0	.	240	P12236	ADT3_HUMAN	L	240	ENSP00000370808:M240L	ENSP00000370808:M240L	M	-	1	0	SLC25A6	1466193	1.000000	0.71417	0.957000	0.39632	0.490000	0.33462	6.073000	0.71245	0.808000	0.34231	0.333000	0.21579	ATG		0.677	SLC25A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055596.1	NM_001636		35	23	0	0	0	1	0	35	23				
ZNF783	100289678	broad.mit.edu	37	7	148978841	148978841	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:148978841C>A	ENST00000434415.1	+	6	1211	c.1048C>A	c.(1048-1050)Ccc>Acc	p.P350T	ZNF783_ENST00000489518.1_Intron	NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	0					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GCGGGCATTCCCCTGCCCCGA	0.731																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(1048-1050)Ccc>Acc		zinc finger family member 783							4.0	5.0	5.0					7																	148978841		1698	3666	5364	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148978841C>A	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.1048C>A	7.37:g.148978841C>A	ENSP00000410890:p.Pro350Thr					ZNF783_ENST00000489518.1_Intron	p.P350T	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		6	1211	+	Melanoma(164;0.15)		350					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.1048C>A	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.320442	0.00232	.	.	ENSG00000204946	ENST00000434415	T	0.48522	0.81	4.65	2.83	0.33086	.	.	.	.	.	T	0.22513	0.0543	N	0.04508	-0.205	0.80722	D	1	.	.	.	.	.	.	T	0.03852	-1.0998	7	0.12430	T	0.62	.	7.6495	0.28340	0.2862:0.6309:0.0:0.0829	.	.	.	.	T	350	ENSP00000410890:P350T	ENSP00000410890:P350T	P	+	1	0	ZNF783	148609774	.	.	0.899000	0.35326	0.068000	0.16541	.	.	0.211000	0.20683	-2.960000	0.00083	CCC		0.731	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		5	4	1	0	0.0215528	1	0.0215528	5	4				
IPO7	10527	broad.mit.edu	37	11	9455160	9455160	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:9455160C>T	ENST00000379719.3	+	17	2067	c.1925C>T	c.(1924-1926)aCt>aTt	p.T642I	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	642					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GTCATTGGTACTGTTTTACAA	0.348																																						ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1924-1926)aCt>aTt		importin 7							119.0	109.0	112.0					11																	9455160		2201	4295	6496	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9455160C>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1925C>T	11.37:g.9455160C>T	ENSP00000369042:p.Thr642Ile						p.T642I	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	17	2067	+			642					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.1925C>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009269	0.35415	.	.	ENSG00000205339	ENST00000379719	T	0.35421	1.31	5.29	5.29	0.74685	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	N	0.04090	-0.28	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.07121	-1.0789	10	0.21540	T	0.41	.	18.9919	0.92796	0.0:1.0:0.0:0.0	.	642	O95373	IPO7_HUMAN	I	642	ENSP00000369042:T642I	ENSP00000369042:T642I	T	+	2	0	IPO7	9411736	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.089000	0.71384	2.495000	0.84180	0.460000	0.39030	ACT		0.348	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		31	19	0	0	0	1	0	31	19				
EXOC4	60412	broad.mit.edu	37	7	133602448	133602448	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:133602448A>G	ENST00000253861.4	+	13	2013	c.1984A>G	c.(1984-1986)Aaa>Gaa	p.K662E	EXOC4_ENST00000539845.1_Missense_Mutation_p.K561E|EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.K272E	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	662					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)	p.K662E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GGCTCAACCCAAACAGCTGAG	0.408																																						ENST00000253861.4																			1	Substitution - Missense(1)	p.K662E(1)	upper_aerodigestive_tract(1)	NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50						c.(1984-1986)Aaa>Gaa		exocyst complex component 4							107.0	96.0	100.0					7																	133602448		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:133602448A>G	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.1984A>G	7.37:g.133602448A>G	ENSP00000253861:p.Lys662Glu					EXOC4_ENST00000545148.1_Missense_Mutation_p.K272E|EXOC4_ENST00000539845.1_Missense_Mutation_p.K561E|EXOC4_ENST00000460346.1_3'UTR	p.K662E	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN			13	2013	+		Esophageal squamous(399;0.129)	662					E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.1984A>G	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.453450	0.63290	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148	.	.	.	5.5	5.5	0.81552	.	0.049345	0.85682	D	0.000000	T	0.45617	0.1351	L	0.47716	1.5	0.80722	D	1	B;B;B	0.32918	0.241;0.046;0.39	B;B;B	0.27380	0.058;0.047;0.079	T	0.45469	-0.9259	9	0.05525	T	0.97	.	15.6145	0.76753	1.0:0.0:0.0:0.0	.	194;272;662	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	E	662;281;561;272	.	ENSP00000253861:K662E	K	+	1	0	EXOC4	133252988	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.419000	0.66435	2.086000	0.62901	0.533000	0.62120	AAA		0.408	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		47	77	0	0	0	1	0	47	77				
ELP4	26610	broad.mit.edu	37	11	31541612	31541612	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:31541612T>A	ENST00000350638.5	+	2	268	c.233T>A	c.(232-234)tTa>tAa	p.L78*	ELP4_ENST00000379163.5_Nonsense_Mutation_p.L78*|ELP4_ENST00000395934.2_Nonsense_Mutation_p.L78*	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	78					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.L78*(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGTGGAGGTTTAGCCGTTGGA	0.348																																						ENST00000395934.2																			1	Substitution - Nonsense(1)	p.L78*(1)	upper_aerodigestive_tract(1)	breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20						c.(232-234)tTa>tAa		elongator acetyltransferase complex subunit 4							247.0	235.0	239.0					11																	31541612		1841	4081	5922	SO:0001587	stop_gained	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31541612T>A	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.233T>A	11.37:g.31541612T>A	ENSP00000298937:p.Leu78*					ELP4_ENST00000379163.5_Nonsense_Mutation_p.L78*|ELP4_ENST00000350638.5_Nonsense_Mutation_p.L78*	p.L78*			Q96EB1	ELP4_HUMAN			2	240	+	Lung SC(675;0.225)		78					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Nonsense_Mutation	SNP	ENST00000350638.5	37	c.233T>A	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026799	0.93518	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	.	.	.	5.15	5.15	0.70609	.	0.077362	0.53938	D	0.000045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	4.4466	13.8451	0.63463	0.0:0.0:0.0:1.0	.	.	.	.	X	78	.	ENSP00000298937:L78X	L	+	2	0	ELP4	31498188	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	4.825000	0.62708	2.077000	0.62373	0.455000	0.32223	TTA		0.348	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		11	35	0	0	0	1	0	11	35				
OR3A2	4995	broad.mit.edu	37	17	3182212	3182212	+	Silent	SNP	G	G	A	rs576062413		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:3182212G>A	ENST00000408891.2	-	1	56	c.18C>T	c.(16-18)ctC>ctT	p.L6L	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	6					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CTGGCTCCATGAGTTTCTGTA	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21484	0.0		0.001	False		,,,				2504	0.0				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	ENST00000408891.2																			0				ovary(1)	1						c.(16-18)ctC>ctT		olfactory receptor, family 3, subfamily A, member 2							32.0	37.0	35.0					17																	3182212		2188	4276	6464	SO:0001819	synonymous_variant	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3182212G>A	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.18C>T	17.37:g.3182212G>A						RP11-64J4.2_ENST00000573491.1_RNA	p.L6L	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN			1	56	-			6					Q6IFM3|Q9P1Q3	Silent	SNP	ENST00000408891.2	37	c.18C>T	CCDS42233.1																																																																																				0.463	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			41	45	0	0	0	1	0	41	45				
HRNR	388697	broad.mit.edu	37	1	152187504	152187504	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:152187504G>A	ENST00000368801.2	-	3	6676	c.6601C>T	c.(6601-6603)Cat>Tat	p.H2201Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2201					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGACCCATGTTGGCCGTGG	0.617																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6601-6603)Cat>Tat		hornerin							45.0	62.0	57.0					1																	152187504		2171	4285	6456	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187504G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6601C>T	1.37:g.152187504G>A	ENSP00000357791:p.His2201Tyr					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.H2201Y	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6676	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2201					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6601C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.380	0.255294	0.10185	.	.	ENSG00000197915	ENST00000368801	T	0.18016	2.24	3.35	-1.72	0.08107	.	.	.	.	.	T	0.03520	0.0101	L	0.55990	1.75	0.09310	N	1	B	0.21821	0.061	B	0.14578	0.011	T	0.46816	-0.9164	9	0.06099	T	0.92	.	8.2364	0.31629	0.114:0.6202:0.2657:0.0	.	2201	Q86YZ3	HORN_HUMAN	Y	2201	ENSP00000357791:H2201Y	ENSP00000357791:H2201Y	H	-	1	0	HRNR	150454128	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.283000	0.02796	-0.087000	0.12528	-0.309000	0.09137	CAT		0.617	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		64	1027	0	0	0	1	0	64	1027				
TUBB3	10381	broad.mit.edu	37	16	90001717	90001717	+	Silent	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr16:90001717G>A	ENST00000315491.7	+	4	981	c.858G>A	c.(856-858)gtG>gtA	p.V286V	TUBB3_ENST00000556922.1_Silent_p.V633V|TUBB3_ENST00000304984.5_Silent_p.V214V|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Silent_p.V214V	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	286					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	CCCTGACCGTGCCCGAGCTCA	0.697																																						ENST00000304984.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(640-642)gtG>gtA		tubulin, beta 3 class III							48.0	52.0	50.0					16																	90001717		2196	4298	6494	SO:0001819	synonymous_variant	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001717G>A	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.858G>A	16.37:g.90001717G>A						TUBB3_ENST00000556922.1_Silent_p.V633V|TUBB3_ENST00000554444.1_Silent_p.V214V|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Silent_p.V286V	p.V214V			Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	3	2937	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	286					A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	37	c.642G>A	CCDS10988.1																																																																																				0.697	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		7	100	0	0	0	1	0	7	100				
CNTN6	27255	broad.mit.edu	37	3	1269522	1269522	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:1269522A>T	ENST00000446702.2	+	4	830	c.203A>T	c.(202-204)gAc>gTc	p.D68V	CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Missense_Mutation_p.D68V			Q9UQ52	CNTN6_HUMAN	contactin 6	68	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AATGGCACAGACATTGATTTT	0.363																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(202-204)gAc>gTc		contactin 6							120.0	118.0	118.0					3																	1269522		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1269522A>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.203A>T	3.37:g.1269522A>T	ENSP00000407822:p.Asp68Val					CNTN6_ENST00000539053.1_5'UTR|CNTN6_ENST00000350110.2_Missense_Mutation_p.D68V	p.D68V			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	4	830	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	68			Ig-like C2-type 1.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.203A>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.177688	0.38413	.	.	ENSG00000134115	ENST00000446702;ENST00000350110	T;T	0.68181	-0.31;-0.31	5.47	3.06	0.35304	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.422589	0.22185	N	0.063441	T	0.55545	0.1927	L	0.43646	1.37	0.80722	D	1	B	0.19935	0.04	B	0.24848	0.056	T	0.44892	-0.9298	10	0.32370	T	0.25	.	8.2186	0.31528	0.7956:0.135:0.0694:0.0	.	68	Q9UQ52	CNTN6_HUMAN	V	68	ENSP00000407822:D68V;ENSP00000341882:D68V	ENSP00000341882:D68V	D	+	2	0	CNTN6	1244522	0.997000	0.39634	0.233000	0.24025	0.991000	0.79684	3.517000	0.53443	0.448000	0.26722	0.455000	0.32223	GAC		0.363	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		50	14	0	0	0	1	0	50	14				
LRP4	4038	broad.mit.edu	37	11	46897149	46897149	+	Silent	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:46897149G>A	ENST00000378623.1	-	27	4025	c.3783C>T	c.(3781-3783)ctC>ctT	p.L1261L	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1261					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TATAGGAGTCGAGCAGGGTGA	0.567																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(3781-3783)ctC>ctT		low density lipoprotein receptor-related protein 4							84.0	63.0	70.0					11																	46897149		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46897149G>A	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3783C>T	11.37:g.46897149G>A							p.L1261L	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	27	4025	-			1261					B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.3783C>T	CCDS31478.1																																																																																				0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		25	51	0	0	0	1	0	25	51				
KMT2A	4297	broad.mit.edu	37	11	118373938	118373938	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr11:118373938A>G	ENST00000389506.5	+	27	7322	c.7322A>G	c.(7321-7323)cAt>cGt	p.H2441R	KMT2A_ENST00000534358.1_Missense_Mutation_p.H2444R|KMT2A_ENST00000354520.4_Missense_Mutation_p.H2403R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2441					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AAAGAAAAGCATTCCAGTAAA	0.393																																						ENST00000534358.1																			0											c.(7330-7332)cAt>cGt		lysine (K)-specific methyltransferase 2A							65.0	68.0	67.0					11																	118373938		2200	4296	6496	SO:0001583	missense	4297							g.chr11:118373938A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.7322A>G	11.37:g.118373938A>G	ENSP00000374157:p.His2441Arg					KMT2A_ENST00000354520.4_Missense_Mutation_p.H2403R|KMT2A_ENST00000389506.5_Missense_Mutation_p.H2441R	p.H2444R	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					27	7354	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.7331A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	9.189	1.025463	0.19512	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82984	-1.67;-1.67;-1.63	5.85	4.72	0.59763	.	0.173580	0.52532	N	0.000067	T	0.71745	0.3376	N	0.19112	0.55	0.43218	D	0.99509	B;B	0.12630	0.006;0.006	B;B	0.08055	0.003;0.003	T	0.66224	-0.5977	10	0.52906	T	0.07	.	11.8102	0.52179	0.9317:0.0:0.0683:0.0	.	2444;2441	E9PQG7;Q03164	.;MLL1_HUMAN	R	2444;2441;2403;1351	ENSP00000436786:H2444R;ENSP00000374157:H2441R;ENSP00000346516:H2403R	ENSP00000346516:H2403R	H	+	2	0	MLL	117879148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.712000	0.54875	1.041000	0.40125	0.533000	0.62120	CAT		0.393	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		27	60	0	0	0	1	0	27	60				
EIF4G1	1981	broad.mit.edu	37	3	184049828	184049828	+	Silent	SNP	G	G	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:184049828G>T	ENST00000346169.2	+	32	4843	c.4572G>T	c.(4570-4572)gcG>gcT	p.A1524A	EIF4G1_ENST00000435046.2_Silent_p.A1328A|EIF4G1_ENST00000414031.1_Silent_p.A1484A|EIF4G1_ENST00000342981.4_Silent_p.A1525A|EIF4G1_ENST00000319274.6_Silent_p.A1524A|EIF4G1_ENST00000427845.1_Silent_p.A1438A|EIF4G1_ENST00000441154.1_Silent_p.A1361A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.A1485A|EIF4G1_ENST00000350481.5_Silent_p.A1360A|EIF4G1_ENST00000392537.2_Silent_p.A1437A|EIF4G1_ENST00000382330.3_Silent_p.A1531A|EIF4G1_ENST00000352767.3_Silent_p.A1531A|EIF4G1_ENST00000434061.2_Silent_p.A1329A|EIF4G1_ENST00000424196.1_Silent_p.A1531A	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1524	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCTACAGGCGCTCTACGCCC	0.592																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4573-4575)gcG>gcT		eukaryotic translation initiation factor 4 gamma, 1							60.0	57.0	58.0					3																	184049828		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184049828G>T	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4572G>T	3.37:g.184049828G>T						EIF4G1_ENST00000382330.3_Silent_p.A1531A|EIF4G1_ENST00000441154.1_Silent_p.A1361A|EIF4G1_ENST00000319274.6_Silent_p.A1524A|EIF4G1_ENST00000350481.5_Silent_p.A1360A|EIF4G1_ENST00000424196.1_Silent_p.A1531A|EIF4G1_ENST00000414031.1_Silent_p.A1484A|EIF4G1_ENST00000435046.2_Silent_p.A1328A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.A1437A|EIF4G1_ENST00000427845.1_Silent_p.A1438A|EIF4G1_ENST00000352767.3_Silent_p.A1531A|EIF4G1_ENST00000434061.2_Silent_p.A1329A|EIF4G1_ENST00000411531.1_Silent_p.A1485A|EIF4G1_ENST00000346169.2_Silent_p.A1524A	p.A1525A	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		31	4989	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1524			EIF4A-binding.|W2.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.4575G>T	CCDS3259.1																																																																																				0.592	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		24	88	1	0	9.86323e-18	1	1.10174e-17	24	88				
TNXB	7148	broad.mit.edu	37	6	32063534	32063534	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr6:32063534C>A	ENST00000479795.1	-	3	2236	c.2096G>T	c.(2095-2097)cGg>cTg	p.R699L	TNXB_ENST00000375247.2_Missense_Mutation_p.R699L|TNXB_ENST00000375244.3_Missense_Mutation_p.R699L			P22105	TENX_HUMAN	tenascin XB	699	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGGCCTGCCCGGCACAGTTC	0.687																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(2095-2097)cGg>cTg		tenascin XB							29.0	34.0	32.0					6																	32063534		2092	4219	6311	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32063534C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.2096G>T	6.37:g.32063534C>A	ENSP00000418248:p.Arg699Leu					TNXB_ENST00000375247.2_Missense_Mutation_p.R699L|TNXB_ENST00000479795.1_Missense_Mutation_p.R699L	p.R699L			P22105	TENX_HUMAN			3	2297	-			699			EGF-like 18.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.2096G>T		.	.	.	.	.	.	.	.	.	.	C	7.362	0.624991	0.14257	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.03553	3.89;3.89;3.89	4.78	1.99	0.26369	.	0.167110	0.28821	N	0.014026	T	0.01523	0.0049	N	0.25426	0.745	0.09310	N	1	D	0.52996	0.957	P	0.52758	0.708	T	0.49409	-0.8943	10	0.27785	T	0.31	.	5.4398	0.16501	0.1426:0.6028:0.0:0.2546	.	699	P22105-3	.	L	699	ENSP00000364393:R699L;ENSP00000364396:R699L;ENSP00000418248:R699L	ENSP00000364393:R699L	R	-	2	0	TNXB	32171512	0.008000	0.16893	0.257000	0.24404	0.036000	0.12997	0.310000	0.19356	0.115000	0.18071	-2.010000	0.00438	CGG		0.687	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	NM_019105		24	15	1	0	1.85244e-09	1	1.98476e-09	24	15				
RASA1	5921	broad.mit.edu	37	5	86676366	86676366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr5:86676366C>T	ENST00000274376.6	+	20	3208	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	RASA1_ENST00000456692.2_Nonsense_Mutation_p.Q705*|RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q716*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q715*	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	882	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.Q882*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GAAATCTGTTCAGCATAAGTG	0.363																																						ENST00000456692.2																			1	Substitution - Nonsense(1)	p.Q882*(1)	upper_aerodigestive_tract(1)	NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(2113-2115)Cag>Tag		RAS p21 protein activator (GTPase activating protein) 1							155.0	152.0	153.0					5																	86676366		2203	4300	6503	SO:0001587	stop_gained	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86676366C>T		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.2644C>T	5.37:g.86676366C>T	ENSP00000274376:p.Gln882*					RASA1_ENST00000506290.1_Nonsense_Mutation_p.Q716*|RASA1_ENST00000512763.1_Nonsense_Mutation_p.Q715*|RASA1_ENST00000274376.6_Nonsense_Mutation_p.Q882*	p.Q705*	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	20	2228	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	882					B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	ENST00000274376.6	37	c.2113C>T	CCDS34200.1	.	.	.	.	.	.	.	.	.	.	C	40	8.432279	0.98808	.	.	ENSG00000145715	ENST00000274376;ENST00000456692;ENST00000512763;ENST00000506290	.	.	.	5.68	4.79	0.61399	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	16.7978	0.85607	0.0:0.8709:0.1291:0.0	.	.	.	.	X	882;705;715;716	.	ENSP00000274376:Q882X	Q	+	1	0	RASA1	86712122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.879000	0.69690	1.498000	0.48600	0.655000	0.94253	CAG		0.363	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		57	20	0	0	0	1	0	57	20				
PHC3	80012	broad.mit.edu	37	3	169831259	169831259	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:169831259G>C	ENST00000494943.1	-	11	2274	c.2206C>G	c.(2206-2208)Ctt>Gtt	p.L736V	PHC3_ENST00000467570.1_Missense_Mutation_p.L695V|PHC3_ENST00000495893.2_Missense_Mutation_p.L748V			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	736					multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTATCCAAAAGAGGCCGTTTT	0.363																																						ENST00000494943.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(2206-2208)Ctt>Gtt		polyhomeotic homolog 3 (Drosophila)							106.0	97.0	100.0					3																	169831259		1831	4097	5928	SO:0001583	missense	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169831259G>C		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2206C>G	3.37:g.169831259G>C	ENSP00000420271:p.Leu736Val					PHC3_ENST00000467570.1_Missense_Mutation_p.L695V|PHC3_ENST00000495893.1_Missense_Mutation_p.L748V	p.L736V			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		11	2274	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		736					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Missense_Mutation	SNP	ENST00000494943.1	37	c.2206C>G		.	.	.	.	.	.	.	.	.	.	G	12.77	2.036436	0.35893	.	.	ENSG00000173889	ENST00000494943;ENST00000495893;ENST00000467570	T;T;T	0.40756	1.02;1.02;1.02	5.51	2.69	0.31865	.	0.299519	0.28754	N	0.014252	T	0.33904	0.0879	L	0.41573	1.285	0.80722	D	1	B;B;B	0.21309	0.054;0.0;0.0	B;B;B	0.25506	0.061;0.0;0.001	T	0.06954	-1.0798	10	0.32370	T	0.25	-3.8094	11.9058	0.52711	0.0:0.237:0.6273:0.1358	.	695;736;748	E7EX82;Q8NDX5;Q8NDX5-7	.;PHC3_HUMAN;.	V	736;748;695	ENSP00000420271:L736V;ENSP00000420294:L748V;ENSP00000419089:L695V	ENSP00000419089:L695V	L	-	1	0	PHC3	171313953	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	2.422000	0.44696	0.259000	0.21709	0.655000	0.94253	CTT		0.363	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		24	39	0	0	0	1	0	24	39				
RNPEP	6051	broad.mit.edu	37	1	201972573	201972573	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:201972573A>T	ENST00000295640.4	+	9	1678	c.1635A>T	c.(1633-1635)aaA>aaT	p.K545N	RNPEP_ENST00000367286.3_Missense_Mutation_p.K506N|RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	545					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)	p.K545N(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCCTCCAGAAATCCCCTCTCC	0.537																																					GBM(19;39 479 7473 13131 19462)	ENST00000295640.4																			1	Substitution - Missense(1)	p.K545N(1)	upper_aerodigestive_tract(1)	breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1633-1635)aaA>aaT		arginyl aminopeptidase (aminopeptidase B)							62.0	53.0	56.0					1																	201972573		2203	4300	6503	SO:0001583	missense	6051				leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding	g.chr1:201972573A>T	BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1635A>T	1.37:g.201972573A>T	ENSP00000295640:p.Lys545Asn					RNPEP_ENST00000367286.3_Missense_Mutation_p.K506N|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR	p.K545N	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)	9	1678	+			545					Q9BVM9|Q9H1D4|Q9NPT7	Missense_Mutation	SNP	ENST00000295640.4	37	c.1635A>T	CCDS1418.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639916	0.47153	.	.	ENSG00000176393	ENST00000295640;ENST00000367286	T;T	0.44881	0.91;0.91	5.63	-3.46	0.04767	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.254493	0.37178	N	0.002201	T	0.33702	0.0872	L	0.56769	1.78	0.41592	D	0.9888	B;B	0.23490	0.04;0.086	B;B	0.28553	0.091;0.091	T	0.19353	-1.0308	10	0.17832	T	0.49	-12.9338	12.3506	0.55146	0.5807:0.0:0.4193:0.0	.	553;545	Q7RU04;Q9H4A4	.;AMPB_HUMAN	N	545;506	ENSP00000295640:K545N;ENSP00000356255:K506N	ENSP00000295640:K545N	K	+	3	2	RNPEP	200239196	0.014000	0.17966	0.445000	0.26908	0.978000	0.69477	-0.895000	0.04118	-0.610000	0.05716	0.459000	0.35465	AAA		0.537	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1	NM_020216		17	29	0	0	0	1	0	17	29				
STX19	415117	broad.mit.edu	37	3	93733420	93733420	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:93733420G>A	ENST00000315099.2	-	2	950	c.694C>T	c.(694-696)Ctt>Ttt	p.L232F	ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	232	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TGAATGAAAAGATCCCTTAAA	0.318																																						ENST00000315099.2																			0				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						c.(694-696)Ctt>Ttt		syntaxin 19							67.0	67.0	67.0					3																	93733420		2202	4299	6501	SO:0001583	missense	415117				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	g.chr3:93733420G>A	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.694C>T	3.37:g.93733420G>A	ENSP00000320679:p.Leu232Phe					ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron	p.L232F	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN			2	950	-			232			t-SNARE coiled-coil homology.			Missense_Mutation	SNP	ENST00000315099.2	37	c.694C>T	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008557	0.54361	.	.	ENSG00000178750	ENST00000315099	T	0.33438	1.41	4.71	2.69	0.31865	t-SNARE (1);Syntaxin/epimorphin, conserved site (1);Target SNARE coiled-coil domain (3);	0.135632	0.50627	D	0.000108	T	0.53850	0.1822	M	0.88512	2.96	0.47862	D	0.999531	D	0.56968	0.978	P	0.57324	0.818	T	0.65857	-0.6066	10	0.72032	D	0.01	.	12.7077	0.57070	0.0:0.0:0.5694:0.4306	.	232	Q8N4C7	STX19_HUMAN	F	232	ENSP00000320679:L232F	ENSP00000320679:L232F	L	-	1	0	STX19	95216110	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.129000	0.42055	1.269000	0.44280	0.650000	0.86243	CTT		0.318	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		23	45	0	0	0	1	0	23	45				
LPAR1	1902	broad.mit.edu	37	9	113704016	113704016	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr9:113704016T>C	ENST00000374431.3	-	4	861	c.478A>G	c.(478-480)Agc>Ggc	p.S160G	LPAR1_ENST00000538760.1_Missense_Mutation_p.S161G|LPAR1_ENST00000374430.2_Missense_Mutation_p.S160G|LPAR1_ENST00000541779.1_Missense_Mutation_p.S161G|LPAR1_ENST00000358883.4_Missense_Mutation_p.S160G	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	160					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CGCCGGTTGCTCATCCGTGTG	0.527																																					NSCLC(115;661 2323 9836 34256)	ENST00000374431.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						c.(478-480)Agc>Ggc		lysophosphatidic acid receptor 1							117.0	105.0	109.0					9																	113704016		2203	4300	6503	SO:0001583	missense	1902				positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		g.chr9:113704016T>C	U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.478A>G	9.37:g.113704016T>C	ENSP00000363553:p.Ser160Gly					LPAR1_ENST00000541779.1_Missense_Mutation_p.S161G|LPAR1_ENST00000538760.1_Missense_Mutation_p.S161G|LPAR1_ENST00000374430.2_Missense_Mutation_p.S160G|LPAR1_ENST00000358883.4_Missense_Mutation_p.S160G	p.S160G	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN			4	861	-			160					B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	ENST00000374431.3	37	c.478A>G	CCDS6777.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349547	0.82132	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760;ENST00000441240	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.53	5.53	0.82687	GPCR, rhodopsin-like superfamily (1);	0.038178	0.85682	D	0.000000	T	0.58104	0.2099	L	0.56280	1.765	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.987	D;P;D	0.65140	0.932;0.855;0.932	T	0.60005	-0.7347	10	0.59425	D	0.04	.	14.8422	0.70233	0.0:0.0:0.0:1.0	.	161;161;160	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	G	160;161;160;160;142;161;160	ENSP00000363553:S160G;ENSP00000445697:S161G;ENSP00000363552:S160G;ENSP00000351755:S160G;ENSP00000440201:S161G;ENSP00000401810:S160G	ENSP00000351755:S160G	S	-	1	0	LPAR1	112743837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.114000	0.64651	0.533000	0.62120	AGC		0.527	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159		75	82	0	0	0	1	0	75	82				
NID1	4811	broad.mit.edu	37	1	236228283	236228283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:236228283C>A	ENST00000264187.6	-	1	179	c.97G>T	c.(97-99)Gag>Tag	p.E33*	NID1_ENST00000366595.3_Nonsense_Mutation_p.E33*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	33				EL -> SS (in Ref. 2; CAA57709). {ECO:0000305}.	basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	GGAAAGAGCTCCTGGCGGCTC	0.701																																						ENST00000264187.6																			0				breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66						c.(97-99)Gag>Tag		nidogen 1	Becaplermin(DB00102)|Urokinase(DB00013)						13.0	12.0	12.0					1																	236228283		2189	4271	6460	SO:0001587	stop_gained	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236228283C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.97G>T	1.37:g.236228283C>A	ENSP00000264187:p.Glu33*					NID1_ENST00000366595.3_Nonsense_Mutation_p.E33*	p.E33*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	179	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	33	EL -> SS (in Ref. 2; CAA57709).				Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Nonsense_Mutation	SNP	ENST00000264187.6	37	c.97G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	34	5.294839	0.95546	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	.	.	.	4.56	4.56	0.56223	.	0.314642	0.32503	N	0.006006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	12.2825	0.54771	0.1704:0.8296:0.0:0.0	.	.	.	.	X	33	.	ENSP00000264187:E33X	E	-	1	0	NID1	234294906	0.904000	0.30761	0.984000	0.44739	0.170000	0.22686	2.094000	0.41719	2.243000	0.73865	0.313000	0.20887	GAG		0.701	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		4	5	1	0	0.00024832	1	0.000253142	4	5				
JAK3	3718	broad.mit.edu	37	19	17951143	17951143	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr19:17951143A>T	ENST00000527670.1	-	8	1179	c.1150T>A	c.(1150-1152)Ttt>Att	p.F384I	JAK3_ENST00000534444.1_Missense_Mutation_p.F384I|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000458235.1_Missense_Mutation_p.F384I			P52333	JAK3_HUMAN	Janus kinase 3	384	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.F384I(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TTGATGGCAAAGTCCAGACTG	0.562		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		1	Substitution - Missense(1)	p.F384I(1)	upper_aerodigestive_tract(1)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1150-1152)Ttt>Att		Janus kinase 3							47.0	40.0	42.0					19																	17951143		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17951143A>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1150T>A	19.37:g.17951143A>T	ENSP00000432511:p.Phe384Ile					JAK3_ENST00000534444.1_Missense_Mutation_p.F384I|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Missense_Mutation_p.F384I	p.F384I	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			9	1249	-			384			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1150T>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303519	0.60195	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.64991	-0.13;-0.13;-0.13	4.8	4.8	0.61643	SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.78049	2.395	0.53688	D	0.999978	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.85130	0.997;0.997;0.93	T	0.81109	-0.1082	10	0.87932	D	0	-11.5334	12.2953	0.54842	1.0:0.0:0.0:0.0	.	384;384;384	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	I	384	ENSP00000391676:F384I;ENSP00000432511:F384I;ENSP00000436421:F384I	ENSP00000413248:F384I	F	-	1	0	JAK3	17812143	1.000000	0.71417	0.999000	0.59377	0.297000	0.27493	6.435000	0.73412	1.806000	0.52798	0.455000	0.32223	TTT		0.562	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		16	24	0	0	0	1	0	16	24				
CYP7A1	1581	broad.mit.edu	37	8	59409583	59409583	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr8:59409583G>A	ENST00000301645.3	-	3	625	c.488C>T	c.(487-489)aCc>aTc	p.T163I		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	163					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCAGGCAGCGGTCTTTGAGTT	0.483									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(487-489)aCc>aTc		cytochrome P450, family 7, subfamily A, polypeptide 1							131.0	131.0	131.0					8																	59409583		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409583G>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.488C>T	8.37:g.59409583G>A	ENSP00000301645:p.Thr163Ile						p.T163I	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			3	625	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	163					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.488C>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	G	5.741	0.321072	0.10845	.	.	ENSG00000167910	ENST00000301645	T	0.64438	-0.1	5.24	-4.8	0.03190	.	1.072050	0.06998	N	0.822876	T	0.50616	0.1626	L	0.46157	1.445	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.34229	-0.9837	10	0.24483	T	0.36	0.1058	10.8486	0.46757	0.1309:0.1778:0.6913:0.0	.	163	P22680	CP7A1_HUMAN	I	163	ENSP00000301645:T163I	ENSP00000301645:T163I	T	-	2	0	CYP7A1	59572137	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.365000	0.07573	-1.425000	0.01997	0.462000	0.41574	ACC		0.483	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		96	126	0	0	0	1	0	96	126				
MYO1H	283446	broad.mit.edu	37	12	109876392	109876392	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:109876392A>G	ENST00000431443.2	+	22	2243	c.2243A>G	c.(2242-2244)cAa>cGa	p.Q748R	MYO1H_ENST00000310903.5_Missense_Mutation_p.Q738R	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	748	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AAGGCAATCCAAAGGAGAAAG	0.522																																						ENST00000310903.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						c.(2212-2214)cAa>cGa		myosin IH							41.0	41.0	41.0					12																	109876392		1921	4116	6037	SO:0001583	missense	283446					myosin complex	motor activity	g.chr12:109876392A>G		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2243A>G	12.37:g.109876392A>G	ENSP00000444076:p.Gln748Arg					MYO1H_ENST00000431443.2_Missense_Mutation_p.Q748R	p.Q738R			B4DNW6	B4DNW6_HUMAN			23	2319	+			0					F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37	c.2213A>G		.	.	.	.	.	.	.	.	.	.	A	2.527	-0.309503	0.05458	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	T;T	0.70516	-0.49;-0.49	5.13	3.98	0.46160	.	.	.	.	.	T	0.47229	0.1434	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.27226	-1.0080	9	0.15066	T	0.55	.	9.1013	0.36669	0.912:0.0:0.088:0.0	.	738	F5H3C6	.	R	738;748	ENSP00000439182:Q738R;ENSP00000444076:Q748R	ENSP00000439182:Q738R	Q	+	2	0	MYO1H	108360775	0.006000	0.16342	0.001000	0.08648	0.126000	0.20510	2.185000	0.42584	0.794000	0.33899	0.533000	0.62120	CAA		0.522	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597		6	17	0	0	0	1	0	6	17				
CROCCP3	114819	broad.mit.edu	37	1	16812970	16812970	+	RNA	DEL	C	C	-			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr1:16812970delC	ENST00000263511.4	-	0	1341					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TGCTGCTGGGCCAGGTCCTTC	0.647																																						ENST00000263511.4																			0																																																			114819							g.chr1:16812970delC	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16812970delC								NR_023386.1						0	1341	-								Q96PW6	RNA	DEL	ENST00000263511.4	37																																																																																						0.647	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		2	4						2	4	---	---	---	---
AQP12A	375318	broad.mit.edu	37	2	241631786	241631786	+	Frame_Shift_Del	DEL	G	G	-	rs369196482		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr2:241631786delG	ENST00000337801.4	+	2	488	c.419delG	c.(418-420)agcfs	p.S141fs	AQP12A_ENST00000429564.1_Frame_Shift_Del_p.S153fs|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	141						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CAGAGCTGCAGCTCGGCCCTG	0.692																																						ENST00000429564.1																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14						c.(454-456)acfs		aquaporin 12A				36,3516		5,26,1745	5.0	8.0	7.0			2.5	1.0	2		7	36,7602		2,32,3785	no	frameshift	AQP12A	NM_198998.1		7,58,5530	A1A1,A1R,RR		0.4713,1.0135,0.6434			241631786	72,11118	1936	4133	6069	SO:0001589	frameshift_variant	375318					integral to membrane	transporter activity	g.chr2:241631786delG	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.419delG	2.37:g.241631786delG	ENSP00000337144:p.Ser141fs					AQP12A_ENST00000337801.4_Frame_Shift_Del_p.S141fs	p.S153fs			Q8IXF9	AQ12A_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	2	518	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	141						Frame_Shift_Del	DEL	ENST00000337801.4	37	c.455delG																																																																																					0.692	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257185.2	NM_198998		2	4						2	4	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48698278	48698281	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:48698278_48698281delCTGT	ENST00000164024.4	-	1	2067_2070	c.1787_1790delACAG	c.(1786-1791)gacagcfs	p.DS596fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.DS596fs|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	596	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D596fs*94(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCAGTGAGGCTGTCGATGGCAAA	0.618																																						ENST00000544264.1																			1	Deletion - Frameshift(1)	p.D596fs*94(1)	upper_aerodigestive_tract(1)	NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(1786-1791)gcfs		cadherin, EGF LAG seven-pass G-type receptor 3																																				SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48698278_48698281delCTGT	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1787_1790delACAG	3.37:g.48698278_48698281delCTGT	ENSP00000164024:p.Asp596fs					CELSR3_ENST00000164024.4_Frame_Shift_Del_p.DS596fs	p.DS596fs			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2067_2070	-			596			Cadherin 3.		O75092	Frame_Shift_Del	DEL	ENST00000164024.4	37	c.1787_1790delACAG	CCDS2775.1																																																																																				0.618	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		24	13						24	13	---	---	---	---
ZPLD1	131368	broad.mit.edu	37	3	102176697	102176697	+	Splice_Site	DEL	C	C	-	rs140908535		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:102176697delC	ENST00000491959.1	+	12	1464	c.582delC	c.(580-582)aac>aa	p.N194fs	ZPLD1_ENST00000306176.1_Splice_Site_p.N210fs|ZPLD1_ENST00000466937.1_Splice_Site_p.N194fs			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	194	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TCCTTTATAACGTAAGTTGAT	0.368																																						ENST00000306176.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						c.e5+1		zona pellucida-like domain containing 1							230.0	209.0	216.0					3																	102176697		2203	4300	6503	SO:0001630	splice_region_variant	131368					integral to membrane		g.chr3:102176697delC	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.582+1C>-	3.37:g.102176697delC						ZPLD1_ENST00000491959.1_Splice_Site_p.N194_splice|ZPLD1_ENST00000466937.1_Splice_Site_p.N194_splice	p.N210_splice	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN			5	730	+			194			ZP.		Q49AS1|Q8WU36	Splice_Site	DEL	ENST00000491959.1	37	c.630_splice																																																																																					0.368	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056	Frame_Shift_Del	8	203						8	203	---	---	---	---
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-	rs142849558		TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccctgc>ccc	p.C164del		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	164	Poly-Cys.				bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	ACACAGGCCCctgctgctgctgc	0.665																																						ENST00000296327.5																			0											c.(475-480)ccc>cc		solute carrier family 51, alpha subunit				166,4098		0,166,1966						5.5	1.0		dbSNP_134	89	364,7890		0,364,3763	no	coding	OSTalpha	NM_152672.5		0,530,5729	A1A1,A1R,RR		4.41,3.8931,4.2339				530,11988				SO:0001651	inframe_deletion	200931							g.chr3:195955100_195955102delCTG		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.477_479delCTG	3.37:g.195955109_195955111delCTG	ENSP00000296327:p.Cys164del						p.PC159del	NM_152672.5	NP_689885.4					5	686_688	+								Q6ZMC7	In_Frame_Del	DEL	ENST00000296327.5	37	c.477_479delCTG	CCDS3314.1																																																																																				0.665	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		7	220						7	220	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153253749	153253750	+	Splice_Site	INS	-	-	T			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr4:153253749_153253750insT	ENST00000281708.4	-	6	2212_2213	c.983_984insA	c.(982-984)gag>gaAg	p.E328fs	FBXW7_ENST00000263981.5_Splice_Site_p.E248fs|FBXW7_ENST00000603548.1_Splice_Site_p.E328fs|FBXW7_ENST00000296555.5_Splice_Site_p.E210fs|FBXW7_ENST00000603841.1_Splice_Site_p.E328fs|FBXW7_ENST00000393956.3_Splice_Site_p.E152fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	328					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.I330fs*2(2)|p.I91fs*2(1)|p.?(1)|p.I250fs*2(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAACCTTACCCTCTTCTTTGCA	0.366			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		5	Insertion - Frameshift(4)|Unknown(1)	p.I330fs*2(2)|p.I91fs*2(1)|p.?(1)|p.I250fs*2(1)	upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.e6+1		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001630	splice_region_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153253749_153253750insT	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.985+1->A	4.37:g.153253750_153253750dupT						FBXW7_ENST00000393956.3_Splice_Site_p.G152_splice|FBXW7_ENST00000263981.5_Splice_Site_p.G248_splice|FBXW7_ENST00000603548.1_Splice_Site_p.G328_splice|FBXW7_ENST00000296555.5_Splice_Site_p.G210_splice|FBXW7_ENST00000603841.1_Splice_Site_p.G328_splice	p.G328_splice	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			6	2212_2213	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	328					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Splice_Site	INS	ENST00000281708.4	37	c.985_splice	CCDS3777.1																																																																																				0.366	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		Frame_Shift_Ins	27	9						27	9	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr7:102883498delA	ENST00000312132.4	-	0	2616							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTACCACTGTAAAAAAAAAAA	0.284																																						ENST00000312132.4																			0																																																			349152							g.chr7:102883498delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883498delA														0	2616	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.284	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		3	5						3	5	---	---	---	---
RBMS2	5939	broad.mit.edu	37	12	56975859	56975860	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr12:56975859_56975860insA	ENST00000262031.5	+	9	891_892	c.796_797insA	c.(796-798)tatfs	p.Y266fs	RBMS2_ENST00000550726.1_Frame_Shift_Ins_p.Y141fs|RBMS2_ENST00000542360.1_Frame_Shift_Ins_p.Y121fs|RBMS2_ENST00000552247.2_Frame_Shift_Ins_p.Y266fs	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	266					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CCCAGCCCCCTATAACATCACC	0.51																																						ENST00000262031.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(796-798)taafs		RNA binding motif, single stranded interacting protein 2																																				SO:0001589	frameshift_variant	5939				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr12:56975859_56975860insA	D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.797dupA	12.37:g.56975860_56975860dupA	ENSP00000262031:p.Tyr266fs					RBMS2_ENST00000550726.1_Frame_Shift_Ins_p.*141fs|RBMS2_ENST00000542360.1_Frame_Shift_Ins_p.*121fs|RBMS2_ENST00000552247.2_Frame_Shift_Ins_p.*266fs	p.*266fs	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN			9	891_892	+			266						Frame_Shift_Ins	INS	ENST00000262031.5	37	c.796_797insA	CCDS8923.1																																																																																				0.510	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409366.2	NM_002898		56	156						56	156	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28900348	28900348	+	RNA	DEL	G	G	-			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr15:28900348delG	ENST00000528584.1	+	0	14					NR_036443.1				hect domain and RLD 2 pseudogene 9																		aaaaaaaaaagaaaaTAACAA	0.403																																						ENST00000528584.1																			0																																																			440248							g.chr15:28900348delG	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900348delG								NR_036443.1						0	14	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.403	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		4	2						4	2	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7576862	7576863	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:7576862_7576863insA	ENST00000269305.4	-	9	1172_1173	c.983_984insT	c.(982-984)ttcfs	p.F328fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.F328fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.F328fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.F328fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.F328fs|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	328	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T329fs*8(3)|p.F328F(1)|p.T329fs*21(1)|p.F328S(1)|p.?(1)|p.F328fs*9(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)	CCTGAAGGGTGAAATATTCTCC	0.441		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"""		16	Whole gene deletion(8)|Insertion - Frameshift(5)|Substitution - Missense(1)|Unknown(1)|Substitution - coding silent(1)	p.0?(8)|p.T329fs*8(3)|p.F328F(1)|p.T329fs*21(1)|p.F328S(1)|p.?(1)|p.F328fs*9(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|stomach(1)|pancreas(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						c.(982-984)tacfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7576862_7576863insA	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.984dupT	17.37:g.7576865_7576865dupA	ENSP00000269305:p.Phe328fs	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_ENST00000269305.4_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Y328fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Y328fs	p.Y328fs	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)	9	1115_1116	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	328		F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.983_984insT	CCDS11118.1																																																																																				0.441	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		49	25						49	25	---	---	---	---
SSTR2	6752	broad.mit.edu	37	17	71165779	71165779	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr17:71165779delC	ENST00000357585.2	+	2	690	c.321delC	c.(319-321)cacfs	p.H107fs	RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Frame_Shift_Del_p.H107fs	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	107					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CTCTGGTCCACTGGCCCTTTG	0.532																																						ENST00000357585.2																			0				endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11						c.(319-321)cafs		somatostatin receptor 2							124.0	109.0	114.0					17																	71165779		2203	4300	6503	SO:0001589	frameshift_variant	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71165779delC		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.321delC	17.37:g.71165779delC	ENSP00000350198:p.His107fs					RP11-143K11.5_ENST00000580671.1_RNA|SSTR2_ENST00000315332.2_Frame_Shift_Del_p.H107fs	p.H107fs	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	690	+			107					A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Frame_Shift_Del	DEL	ENST00000357585.2	37	c.321delC	CCDS11691.1																																																																																				0.532	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			58	86						58	86	---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51293714	51293716	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr19:51293714_51293716delCTG	ENST00000270593.1	+	1	43_45	c.43_45delCTG	c.(43-45)ctgdel	p.L20del	CTD-2568A17.8_ENST00000594114.1_RNA|ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	20						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGACCTCTCctgctgctgctgc	0.709																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(43-45)del		acid phosphatase, testicular				168,3966		7,154,1906						-0.3	0.0			15	194,7852		8,178,3837	no	coding	ACPT	NM_033068.2		15,332,5743	A1A1,A1R,RR		2.4111,4.0639,2.9721				362,11818				SO:0001651	inframe_deletion	93650					integral to membrane	acid phosphatase activity	g.chr19:51293714_51293716delCTG	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.43_45delCTG	19.37:g.51293723_51293725delCTG	ENSP00000270593:p.Leu20del					ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	43_45	+		all_neural(266;0.057)	20					C0H3P7|Q9BZG3|Q9BZG4	In_Frame_Del	DEL	ENST00000270593.1	37	c.43_45delCTG	CCDS12802.1																																																																																				0.709	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		2	4						2	4	---	---	---	---
LIMK2	3985	broad.mit.edu	37	22	31663761	31663761	+	Splice_Site	DEL	G	G	-			TCGA-BB-8601-01A-11D-2394-08	TCGA-BB-8601-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	479b14f2-3dc4-4220-9831-8ddb453fce2c	5cd14cf8-7b80-41c9-8df6-21c42ee84fd6	g.chr22:31663761delG	ENST00000331728.4	+	10	1242		c.e10-1		LIMK2_ENST00000406516.1_Splice_Site|LIMK2_ENST00000340552.4_Splice_Site|LIMK2_ENST00000444929.2_Splice_Site|LIMK2_ENST00000333611.4_Splice_Site	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2						phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						CCCACCCCCAGGTGAAAGTGA	0.507																																						ENST00000331728.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.e10-1		LIM domain kinase 2							87.0	74.0	78.0					22																	31663761		2203	4300	6503	SO:0001630	splice_region_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31663761delG	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1129-1G>-	22.37:g.31663761delG						LIMK2_ENST00000333611.4_Splice_Site|LIMK2_ENST00000340552.4_Splice_Site|LIMK2_ENST00000406516.1_Splice_Site|LIMK2_ENST00000444929.2_Splice_Site		NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN			10	1242	+								A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Splice_Site	DEL	ENST00000331728.4	37		CCDS13891.1																																																																																				0.507	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	Intron	46	82						46	82	---	---	---	---
