#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
TOPBP1	11073	broad.mit.edu	37	3	133342926	133342926	+	Silent	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:133342926T>C	ENST00000260810.5	-	17	3029	c.2898A>G	c.(2896-2898)gtA>gtG	p.V966V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	966	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAACAATGTGTACTCCTCTTT	0.383								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2896-2898)gtA>gtG	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							124.0	118.0	120.0					3																	133342926		1855	4076	5931	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133342926T>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2898A>G	3.37:g.133342926T>C							p.V966V	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			17	3029	-			966			BRCT 6.		B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.2898A>G	CCDS46919.1																																																																																				0.383	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		21	43	0	0	0	0.000229342	0	21	43				
FAM188B	84182	broad.mit.edu	37	7	30825445	30825445	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:30825445C>T	ENST00000265299.6	+	4	577	c.500C>T	c.(499-501)aCg>aTg	p.T167M	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	167										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCATGCAGACGGTCCCGGGT	0.458																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(499-501)aCg>aTg		family with sequence similarity 188, member B							103.0	107.0	106.0					7																	30825445		1864	4117	5981	SO:0001583	missense	84182							g.chr7:30825445C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.500C>T	7.37:g.30825445C>T	ENSP00000265299:p.Thr167Met					INMT-FAM188B_ENST00000458257.1_3'UTR	p.T167M	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			4	577	+			167					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.500C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	2.990	-0.208276	0.06180	.	.	ENSG00000106125	ENST00000265299	T	0.25085	1.82	5.19	-3.35	0.04928	.	1.455150	0.04142	N	0.319726	T	0.19805	0.0476	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.39333	-0.9619	10	0.87932	D	0	-19.3987	11.1119	0.48237	0.0:0.3278:0.0:0.6722	.	167	Q4G0A6	F188B_HUMAN	M	167	ENSP00000265299:T167M	ENSP00000265299:T167M	T	+	2	0	FAM188B	30791970	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.734000	0.04893	-0.998000	0.03446	-0.142000	0.14014	ACG		0.458	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		60	97	0	0	0	0.000147903	0	60	97				
ANAPC1	64682	broad.mit.edu	37	2	112620054	112620054	+	Missense_Mutation	SNP	T	T	C	rs540910667		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:112620054T>C	ENST00000341068.3	-	10	1946	c.1174A>G	c.(1174-1176)Aat>Gat	p.N392D		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AAGGAGCCATTAGAATTACTA	0.378													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19170	0.0		0.0	False		,,,				2504	0.0					ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1174-1176)Aat>Gat		anaphase promoting complex subunit 1							55.0	51.0	52.0					2																	112620054		2202	4300	6502	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112620054T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1174A>G	2.37:g.112620054T>C	ENSP00000339109:p.Asn392Asp						p.N392D	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			10	1946	-			392					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1174A>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695732	0.48202	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.64	4.49	0.54785	.	0.000000	0.38436	U	0.001691	T	0.35970	0.0950	L	0.44542	1.39	0.31381	N	0.678989	B	0.26002	0.139	B	0.19946	0.027	T	0.35325	-0.9793	9	0.24483	T	0.36	-18.6633	9.7104	0.40243	0.0:0.0781:0.0:0.9219	.	392	Q9H1A4	APC1_HUMAN	D	392	.	ENSP00000339109:N392D	N	-	1	0	ANAPC1	112336525	0.976000	0.34144	0.787000	0.31911	0.997000	0.91878	5.022000	0.64078	2.137000	0.66172	0.533000	0.62120	AAT		0.378	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	24	0	0	0	8.12818e-05	0	6	24				
ROBO2	6092	broad.mit.edu	37	3	77614158	77614158	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:77614158T>A	ENST00000461745.1	+	12	2636	c.1736T>A	c.(1735-1737)cTc>cAc	p.L579H	ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H|ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	579	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGACCACCCTCTATACTGTA	0.463																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1735-1737)cTc>cAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							81.0	80.0	81.0					3																	77614158		1977	4168	6145	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614158T>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1736T>A	3.37:g.77614158T>A	ENSP00000417164:p.Leu579His					ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H|ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H	p.L579H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2636	+			579			Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1736T>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591313	0.28357	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.56776	0.44;0.44;0.44	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40222	N	0.001155	T	0.35219	0.0924	N	0.02674	-0.535	0.40650	D	0.982028	B;B;B	0.30664	0.176;0.289;0.176	B;B;B	0.42522	0.39;0.328;0.39	T	0.53947	-0.8366	9	0.27785	T	0.31	.	11.5561	0.50748	0.0:0.0688:0.0:0.9312	.	595;579;579	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	595;595;599;579;579;300	ENSP00000417335:L595H;ENSP00000417164:L579H;ENSP00000327536:L579H	ENSP00000327536:L579H	L	+	2	0	ROBO2	77696848	1.000000	0.71417	0.999000	0.59377	0.343000	0.28985	4.307000	0.59123	2.304000	0.77564	0.528000	0.53228	CTC		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		33	44	0	0	0	0.000339439	0	33	44				
GRK1	6011	broad.mit.edu	37	13	114325879	114325879	+	Missense_Mutation	SNP	C	C	T	rs572803634	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:114325879C>T	ENST00000335678.6	+	3	1125	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> M. {ECO:0000269|PubMed:9268593}.		negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.T298M(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTCTTCTACACGGCGCAGATC	0.632													c|||	4	0.000798722	0.0	0.0014	5008	,	,		20021	0.003		0.0	False		,,,				2504	0.0					ENST00000335678.6																			1	Substitution - Missense(1)	p.T298M(1)	large_intestine(1)	ovary(2)	2						c.(892-894)aCg>aTg		G protein-coupled receptor kinase 1							38.0	43.0	42.0					13																	114325879		2062	4203	6265	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114325879C>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.893C>T	13.37:g.114325879C>T	ENSP00000334876:p.Thr298Met						p.T298M	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		3	1125	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	298		T -> M (in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance).	Protein kinase.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.893C>T		.	.	.	.	.	.	.	.	.	.	c	14.31	2.498033	0.44455	.	.	ENSG00000185974	ENST00000335678	T	0.64085	-0.08	4.43	3.29	0.37713	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.224065	0.45867	D	0.000332	T	0.68302	0.2986	.	.	.	0.36088	D	0.84322	D	0.56521	0.976	P	0.56474	0.799	T	0.76222	-0.3038	9	0.87932	D	0	-14.3093	7.8935	0.29693	0.0:0.8345:0.0:0.1655	.	298	Q15835	RK_HUMAN	M	298	ENSP00000334876:T298M	ENSP00000334876:T298M	T	+	2	0	GRK1	113373880	0.019000	0.18553	0.984000	0.44739	0.670000	0.39368	2.143000	0.42187	2.148000	0.66965	0.506000	0.49869	ACG		0.632	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		13	43	0	0	0	0.000219431	0	13	43				
NSA2	10412	broad.mit.edu	37	5	74066519	74066519	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:74066519A>C	ENST00000296802.5	+	4	775	c.406A>C	c.(406-408)Att>Ctt	p.I136L	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	136	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ATTAAAAGTTATTCGAACAGG	0.368																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(406-408)Att>Ctt		NSA2 ribosome biogenesis homolog (S. cerevisiae)							85.0	86.0	86.0					5																	74066519		2203	4300	6503	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74066519A>C	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.406A>C	5.37:g.74066519A>C	ENSP00000296802:p.Ile136Leu					NSA2_ENST00000513356.1_3'UTR	p.I136L	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN			4	775	+			136			Lys-rich.			Missense_Mutation	SNP	ENST00000296802.5	37	c.406A>C	CCDS4025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.37|12.37	1.917195|1.917195	0.33815|0.33815	.|.	.|.	ENSG00000164346|ENSG00000164346	ENST00000296802|ENST00000515524	T|.	0.28666|.	1.6|.	5.63|5.63	4.46|4.46	0.54185|0.54185	.|.	0.043820|.	0.85682|.	D|.	0.000000|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.05050|0.05050	-0.12|-0.12	0.50632|0.50632	D|D	0.99988|0.99988	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.08472|0.08472	-1.0720|-1.0720	10|5	0.16896|.	T|.	0.51|.	.|.	14.1705|14.1705	0.65506|0.65506	0.9356:0.0:0.0644:0.0|0.9356:0.0:0.0644:0.0	.|.	136|.	O95478|.	NSA2_HUMAN|.	L|S	136|44	ENSP00000296802:I136L|.	ENSP00000296802:I136L|.	I|Y	+|+	1|2	0|0	NSA2|NSA2	74102275|74102275	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.947000|0.947000	0.59692|0.59692	4.761000|4.761000	0.62243|0.62243	0.484000|0.484000	0.27630|0.27630	-1.162000|-1.162000	0.01777|0.01777	ATT|TAT		0.368	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		22	59	0	0	0	0.000375601	0	22	59				
ARHGEF18	23370	broad.mit.edu	37	19	7535101	7535101	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:7535101G>A	ENST00000359920.6	+	19	3692	c.3439G>A	c.(3439-3441)Ggg>Agg	p.G1147R	CTD-2207O23.3_ENST00000593531.1_Silent_p.P1104P|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G989R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1147	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCTCCTGCCCGGGCCCCCAGC	0.672																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(3439-3441)Ggg>Agg		Rho/Rac guanine nucleotide exchange factor (GEF) 18							26.0	34.0	31.0					19																	7535101		2199	4292	6491	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7535101G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3439G>A	19.37:g.7535101G>A	ENSP00000352995:p.Gly1147Arg					CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.1104_1104insP|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G989R	p.G1147R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			19	3692	+		Renal(5;0.0902)	1147			Pro-rich.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.3439G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	6.285	0.420702	0.11928	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.29397	1.59;1.57	4.15	-2.66	0.06077	.	2.808600	0.01606	N	0.022266	T	0.13927	0.0337	N	0.22421	0.69	0.09310	N	1	P;B	0.35363	0.497;0.364	B;B	0.26969	0.075;0.034	T	0.06570	-1.0819	10	0.11794	T	0.64	-0.3727	1.3214	0.02117	0.2145:0.3575:0.2697:0.1584	.	989;1147	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	R	989;1147	ENSP00000319200:G989R;ENSP00000352995:G1147R	ENSP00000319200:G989R	G	+	1	0	ARHGEF18	7441101	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.349000	0.07731	-0.442000	0.07190	0.655000	0.94253	GGG		0.672	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		42	47	0	0	0	0.000589545	0	42	47				
MECOM	2122	broad.mit.edu	37	3	168810878	168810878	+	Missense_Mutation	SNP	G	G	A	rs540158912		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:168810878G>A	ENST00000464456.1	-	12	3641	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L	MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L|MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L|MECOM_ENST00000433243.2_Missense_Mutation_p.S824L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGAGGCGACGATGTTGCTGT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.001					ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2440-2442)tCg>tTg		MDS1 and EVI1 complex locus							105.0	94.0	98.0					3																	168810878		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168810878G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2441C>T	3.37:g.168810878G>A	ENSP00000419770:p.Ser814Leu					MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000433243.2_Missense_Mutation_p.S824L|MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L	p.S814L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			12	3641	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2441C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413161	0.62511	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07688	3.22;3.21;3.18;3.31;3.17;3.21;3.17;3.31	5.55	5.55	0.83447	.	0.659476	0.13721	N	0.367351	T	0.24198	0.0586	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.997;1.0;0.993	D;D;D;D;P	0.83275	0.941;0.996;0.914;0.996;0.874	T	0.01074	-1.1460	10	0.72032	D	0.01	-7.4309	19.5152	0.95160	0.0:0.0:1.0:0.0	.	1011;815;1002;888;823	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	L	888;823;814;824;1002;823;814;824	ENSP00000264674:S888L;ENSP00000376493:S823L;ENSP00000419770:S814L;ENSP00000420048:S824L;ENSP00000417899:S1002L;ENSP00000419995:S823L;ENSP00000420466:S814L;ENSP00000394302:S824L	ENSP00000264674:S888L	S	-	2	0	MECOM	170293572	1.000000	0.71417	0.806000	0.32338	0.022000	0.10575	9.383000	0.97214	2.615000	0.88500	0.460000	0.39030	TCG		0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		39	64	0	0	0	0.000319135	0	39	64				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	29	0	0	0	6.4e-05	0	3	29				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	53	0	0	0	0.000295444	0	20	53				
ZBTB48	3104	broad.mit.edu	37	1	6648255	6648255	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:6648255A>T	ENST00000377674.4	+	8	1673	c.1515A>T	c.(1513-1515)caA>caT	p.Q505H		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	505					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGAACCCAAGGTGAGGTAC	0.622																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.e8+1		zinc finger and BTB domain containing 48							94.0	81.0	86.0					1																	6648255		2203	4300	6503	SO:0001630	splice_region_variant	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6648255A>T	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1516+1A>T	1.37:g.6648255A>T							p.Q505_splice	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	8	1673	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	505					Q5SY19	Splice_Site	SNP	ENST00000377674.4	37	c.1516_splice	CCDS84.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696053	0.68386	.	.	ENSG00000204859	ENST00000377674	T	0.07908	3.15	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.099205	0.64402	D	0.000001	T	0.13415	0.0325	N	0.12887	0.27	0.58432	D	0.999998	D	0.76494	0.999	D	0.70716	0.97	T	0.37361	-0.9709	10	0.29301	T	0.29	-16.2131	15.0522	0.71881	1.0:0.0:0.0:0.0	.	505	P10074	ZBT48_HUMAN	H	505	ENSP00000366902:Q505H	ENSP00000366902:Q505H	Q	+	3	2	ZBTB48	6570842	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.169000	0.64984	2.216000	0.71823	0.460000	0.39030	CAA		0.622	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341	Missense_Mutation	19	34	0	0	0	0.000132079	0	19	34				
NOS1AP	9722	broad.mit.edu	37	1	162313729	162313729	+	Silent	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:162313729A>G	ENST00000361897.5	+	6	960	c.558A>G	c.(556-558)ggA>ggG	p.G186G	NOS1AP_ENST00000530878.1_Silent_p.G181G|MIR556_ENST00000384996.1_RNA	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	186	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGAAGATGGAGAGAGCGAGA	0.587																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(556-558)ggA>ggG		nitric oxide synthase 1 (neuronal) adaptor protein							118.0	105.0	109.0					1																	162313729		2203	4300	6503	SO:0001819	synonymous_variant	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162313729A>G	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.558A>G	1.37:g.162313729A>G						NOS1AP_ENST00000530878.1_Silent_p.G181G	p.G186G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		6	960	+	all_hematologic(112;0.203)		186			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	c.558A>G	CCDS1237.1																																																																																				0.587	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		3	66	0	0	0	6.4e-05	0	3	66				
SPAG5	10615	broad.mit.edu	37	17	26910636	26910636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:26910636G>A	ENST00000321765.5	-	15	2910	c.2578C>T	c.(2578-2580)Cag>Tag	p.Q860*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	860					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTTGCTCCTGGTTATCTGCT	0.468																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2578-2580)Cag>Tag		sperm associated antigen 5							156.0	137.0	144.0					17																	26910636		2203	4300	6503	SO:0001587	stop_gained	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26910636G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2578C>T	17.37:g.26910636G>A	ENSP00000323300:p.Gln860*						p.Q860*	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			15	2910	-	Lung NSC(42;0.00431)		860					O95213|Q9BWE8|Q9NT17|Q9UFE6	Nonsense_Mutation	SNP	ENST00000321765.5	37	c.2578C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	44	10.625889	0.99440	.	.	ENSG00000076382;ENSG00000258472	ENST00000321765;ENST00000531839	.	.	.	5.89	3.76	0.43208	.	0.360056	0.24147	N	0.041109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.4051	12.2043	0.54342	0.0:0.3451:0.6549:0.0	.	.	.	.	X	860;265	.	ENSP00000431165:Q265X	Q	-	1	0	SPAG5;RP11-192H23.4	23934763	0.977000	0.34250	0.751000	0.31187	0.958000	0.62258	1.958000	0.40402	1.473000	0.48159	0.650000	0.86243	CAG		0.468	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		4	107	0	0	0	1.23904e-05	0	4	107				
CDH3	1001	broad.mit.edu	37	16	68713813	68713813	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:68713813T>C	ENST00000264012.4	+	7	1347	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	268	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCACACGACCTCATGTTCACC	0.552																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(802-804)cTc>cCc		cadherin 3, type 1, P-cadherin (placental)							204.0	146.0	165.0					16																	68713813		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68713813T>C	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.803T>C	16.37:g.68713813T>C	ENSP00000264012:p.Leu268Pro					CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	p.L268P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	7	1347	+		Ovarian(137;0.0564)	268			Cadherin 2.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.803T>C	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	T	8.393	0.840138	0.16891	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.51071	0.72;0.72	5.18	2.75	0.32379	Cadherin (4);Cadherin-like (1);	0.227351	0.22575	N	0.058298	T	0.22859	0.0552	N	0.04245	-0.25	0.58432	D	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.04621	-1.0938	10	0.59425	D	0.04	.	6.0144	0.19594	0.1907:0.0:0.1367:0.6726	.	268	P22223	CADH3_HUMAN	P	268;268;213	ENSP00000398485:L268P;ENSP00000264012:L268P	ENSP00000264012:L268P	L	+	2	0	CDH3	67271314	0.989000	0.36119	0.997000	0.53966	0.058000	0.15608	3.747000	0.55134	0.770000	0.33336	0.528000	0.53228	CTC		0.552	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		4	98	0	0	0	0.00024832	0	4	98				
CEACAM20	125931	broad.mit.edu	37	19	45029262	45029262	+	RNA	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45029262A>G	ENST00000454753.1	-	0	346							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGACTCCATACGGTACAAAG	0.587																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							100.0	106.0	104.0					19																	45029262		2097	4215	6312			125931					integral to membrane		g.chr19:45029262A>G	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029262A>G										Q6UY09	CEA20_HUMAN			0	346	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.587	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		35	85	0	0	0	0.000270559	0	35	85				
MCMBP	79892	broad.mit.edu	37	10	121595126	121595126	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:121595126C>T	ENST00000360003.3	-	14	1808	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	MCMBP_ENST00000369077.3_Missense_Mutation_p.V545M|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	547					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TTGTTCAGCACGGAAGGCAGC	0.418																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1639-1641)Gtg>Atg		minichromosome maintenance complex binding protein							121.0	116.0	117.0					10																	121595126		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121595126C>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1639G>A	10.37:g.121595126C>T	ENSP00000353098:p.Val547Met					MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.V545M	p.V547M	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			14	1808	-			547					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1639G>A	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282125	0.40394	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.32	3.35	0.38373	.	0.263716	0.38436	N	0.001693	T	0.31071	0.0785	L	0.53249	1.67	0.32772	N	0.503595	P	0.44309	0.832	B	0.37239	0.244	T	0.43750	-0.9372	9	0.31617	T	0.26	-16.9303	6.5399	0.22375	0.0:0.5735:0.2721:0.1543	.	547	Q9BTE3	MCMBP_HUMAN	M	547;545	.	ENSP00000353098:V547M	V	-	1	0	MCMBP	121585116	0.861000	0.29849	0.749000	0.31150	0.972000	0.66771	1.308000	0.33528	1.246000	0.43901	0.313000	0.20887	GTG		0.418	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		38	72	0	0	0	0.000228196	0	38	72				
MUC5B	727897	broad.mit.edu	37	11	1255481	1255481	+	Silent	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:1255481G>A	ENST00000529681.1	+	20	2482	c.2424G>A	c.(2422-2424)gcG>gcA	p.A808A	MUC5B_ENST00000447027.1_Silent_p.A811A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	808	TIL 3.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTCGGCGGGCACCCCTG	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2431-2433)gcG>gcA		mucin 5B, oligomeric mucus/gel-forming							13.0	16.0	15.0					11																	1255481		1957	4121	6078	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1255481G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2424G>A	11.37:g.1255481G>A						MUC5B_ENST00000529681.1_Silent_p.A808A	p.A811A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	20	2491	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	808	P -> L (in Ref. 2; AAC67545).		TIL 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.2433G>A	CCDS44515.2																																																																																				0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	16	0	0	0	0.000157383	0	6	16				
ALPI	248	broad.mit.edu	37	2	233322371	233322371	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:233322371G>A	ENST00000295463.3	+	6	822	c.745G>A	c.(745-747)Ggg>Agg	p.G249R		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	249					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGGCTGGACGGGAAGAACCT	0.622																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(745-747)Ggg>Agg		alkaline phosphatase, intestinal							63.0	63.0	63.0					2																	233322371		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322371G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.745G>A	2.37:g.233322371G>A	ENSP00000295463:p.Gly249Arg						p.G249R	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	6	822	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	249					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.745G>A	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671447	0.47781	.	.	ENSG00000163295	ENST00000295463	D	0.98090	-4.71	5.17	-4.69	0.03299	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.463730	0.03690	N	0.246979	D	0.97436	0.9161	H	0.95745	3.715	0.09310	N	1	P	0.35684	0.515	B	0.34093	0.175	D	0.90962	0.4813	10	0.66056	D	0.02	.	6.8172	0.23837	0.0794:0.3163:0.4971:0.1072	.	249	P09923	PPBI_HUMAN	R	249	ENSP00000295463:G249R	ENSP00000295463:G249R	G	+	1	0	ALPI	233030615	0.009000	0.17119	0.000000	0.03702	0.018000	0.09664	0.920000	0.28705	-0.720000	0.04935	0.561000	0.74099	GGG		0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		14	40	0	0	0	0.000308642	0	14	40				
CLTCL1	8218	broad.mit.edu	37	22	19198013	19198013	+	Silent	SNP	T	T	C	rs372241985		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:19198013T>C	ENST00000263200.10	-	20	3144	c.3072A>G	c.(3070-3072)ctA>ctG	p.L1024L	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000353891.5_Silent_p.L1024L|CLTCL1_ENST00000427926.1_Silent_p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1024	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAGATTCTGTAGATTCCTGA	0.552			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3070-3072)ctA>ctG		clathrin, heavy chain-like 1							51.0	51.0	51.0					22																	19198013		2057	4195	6252	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19198013T>C		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3072A>G	22.37:g.19198013T>C						CLTCL1_ENST00000353891.5_Silent_p.L1024L|CLTCL1_ENST00000427926.1_Silent_p.L1024L	p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			20	3144	-	Colorectal(54;0.0993)		1024			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.3072A>G	CCDS46662.1																																																																																				0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	47	0	0	0	1.23904e-05	0	3	47				
FLT3	2322	broad.mit.edu	37	13	28610092	28610092	+	Silent	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28610092C>T	ENST00000241453.7	-	11	1479	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	FLT3_ENST00000380982.4_Silent_p.K466K|FLT3_ENST00000537084.1_Silent_p.K466K	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	466					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCTGAACACTTCTTCCAGG	0.423			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1396-1398)aaG>aaA		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						216.0	214.0	215.0					13																	28610092		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28610092C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1398G>A	13.37:g.28610092C>T						FLT3_ENST00000537084.1_Silent_p.K466K|FLT3_ENST00000241453.7_Silent_p.K466K	p.K466K			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	11	1479	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	466					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.1398G>A	CCDS31953.1																																																																																				0.423	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			8	296	0	0	0	0.000442599	0	8	296				
SMG1	23049	broad.mit.edu	37	16	18823153	18823153	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:18823153C>A	ENST00000446231.2	-	62	11250	c.10838G>T	c.(10837-10839)tGg>tTg	p.W3613L	SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3613					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACTCTCTTCCACACACTCAC	0.418																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10837-10839)tGg>tTg		SMG1 phosphatidylinositol 3-kinase-related kinase							354.0	333.0	340.0					16																	18823153		1912	4124	6036	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823153C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10838G>T	16.37:g.18823153C>A	ENSP00000402515:p.Trp3613Leu					RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L	p.W3613L			Q96Q15	SMG1_HUMAN			62	11250	-			3613					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10838G>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701063	0.88924	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.00892	5.57;5.57	5.83	5.83	0.93111	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.64402	D	0.000012	T	0.05227	0.0139	M	0.65975	2.015	0.58432	D	0.999994	D	0.63880	0.993	D	0.72982	0.979	T	0.55611	-0.8114	10	0.28530	T	0.3	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	3613	Q96Q15	SMG1_HUMAN	L	3613;3614	ENSP00000402515:W3613L;ENSP00000374118:W3614L	ENSP00000374118:W3614L	W	-	2	0	SMG1	18730654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.756000	0.94617	0.655000	0.94253	TGG		0.418	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		9	499	1	0	0.000274275	0.000274275	0.00701996	9	499				
TMEM211	255349	broad.mit.edu	37	22	25331314	25331314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:25331314C>A	ENST00000423535.1	-	3	588	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*|TMEM211_ENST00000407886.1_Nonsense_Mutation_p.E126*			Q6ICI0	TM211_HUMAN	transmembrane protein 211	197						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTTCATTTCTGGCACAAAG	0.493																																						ENST00000407886.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(376-378)Gaa>Taa		transmembrane protein 211							86.0	86.0	86.0					22																	25331314		2203	4300	6503	SO:0001587	stop_gained	255349					integral to membrane		g.chr22:25331314C>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.589G>T	22.37:g.25331314C>A	ENSP00000387813:p.Glu197*					TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*|TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*	p.E126*			Q6ICI0	TM211_HUMAN			4	628	-			197						Nonsense_Mutation	SNP	ENST00000423535.1	37	c.376G>T		.	.	.	.	.	.	.	.	.	.	C	11.58	1.682301	0.29872	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	.	.	.	4.26	4.26	0.50523	.	0.198839	0.34110	N	0.004252	.	.	.	.	.	.	0.33356	D	0.571658	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.5777	8.2082	0.31467	0.0:0.892:0.0:0.108	.	.	.	.	X	126;197;126	.	ENSP00000372192:E126X	E	-	1	0	TMEM211	23661314	0.999000	0.42202	0.961000	0.40146	0.221000	0.24807	2.311000	0.43717	2.369000	0.80426	0.455000	0.32223	GAA		0.493	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		42	80	1	0	3.54909e-21	0.000589545	9.60282e-20	42	80				
FOXS1	2307	broad.mit.edu	37	20	30432472	30432472	+	Missense_Mutation	SNP	G	G	A	rs2296917		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:30432472G>A	ENST00000375978.3	-	1	948	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	292			P -> A (in dbSNP:rs2296917).		blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGTCAGTTGGCAGGGGCAGT	0.687																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(874-876)Cca>Tca		forkhead box S1							26.0	28.0	27.0					20																	30432472		2203	4299	6502	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432472G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.874C>T	20.37:g.30432472G>A	ENSP00000365145:p.Pro292Ser						p.P292S	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	948	-			292		P -> A (in dbSNP:rs2296917).			Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.874C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877852	0.33162	.	.	ENSG00000179772	ENST00000375978	D	0.92199	-2.99	4.52	4.52	0.55395	.	0.196433	0.25500	N	0.030256	D	0.82967	0.5152	L	0.27053	0.805	0.31334	N	0.684426	P	0.39480	0.675	B	0.33960	0.173	T	0.82849	-0.0254	10	0.44086	T	0.13	.	6.3456	0.21347	0.0985:0.1879:0.7136:0.0	.	292	O43638	FOXS1_HUMAN	S	292	ENSP00000365145:P292S	ENSP00000365145:P292S	P	-	1	0	FOXS1	29896133	0.994000	0.37717	1.000000	0.80357	0.869000	0.49853	0.952000	0.29149	2.341000	0.79615	0.448000	0.29417	CCA		0.687	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		5	40	0	0	0	1.23904e-05	0	5	40				
GGT1	2678	broad.mit.edu	37	22	24982284	24982284	+	Intron	SNP	C	C	T	rs376304947		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:24982284C>T	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Missense_Mutation_p.R173H|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCTCAGGTAGCGTGTGATGTG	0.627																																						ENST00000318753.8																			0											c.(517-519)cGc>cAc		family with sequence similarity 211, member B		C	,HIS/ARG	2,4374	4.2+/-10.8	0,2,2186	136.0	150.0	145.0		,518	-1.3	0.2	22		145	0,8570		0,0,4285	no	intron,missense	GGT1,C22orf36	NM_013430.2,NM_207644.2	,29	0,2,6471	TT,TC,CC		0.0,0.0457,0.0154	,benign	,173/316	24982284	2,12944	2188	4285	6473	SO:0001627	intron_variant	388886							g.chr22:24982284C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2508C>T	22.37:g.24982284C>T						GGT1_ENST00000248923.4_Intron	p.R173H	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	541	-			173					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.518G>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	4.254	0.046256	0.08243	4.57E-4	0.0	ENSG00000178026	ENST00000318753	T	0.29917	1.55	3.35	-1.31	0.09230	.	0.598985	0.16523	N	0.210739	T	0.10294	0.0252	N	0.04880	-0.145	0.22866	N	0.99864	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	10	0.15499	T	0.54	-14.6243	3.9091	0.09196	0.1677:0.4057:0.0:0.4266	.	173	Q2VPJ9	LRC6X_HUMAN	H	173	ENSP00000320520:R173H	ENSP00000320520:R173H	R	-	2	0	C22orf36	23312284	0.058000	0.20735	0.250000	0.24296	0.001000	0.01503	-0.160000	0.10041	-0.066000	0.12998	-1.327000	0.01280	CGC		0.627	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		81	130	0	0	0	0.000147903	0	81	130				
ARNT2	9915	broad.mit.edu	37	15	80866543	80866543	+	Silent	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:80866543A>T	ENST00000303329.4	+	13	1536	c.1371A>T	c.(1369-1371)tcA>tcT	p.S457S	ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000533983.1_Silent_p.S446S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	457					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGATTGTCATCGTATGACT	0.483																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1336-1338)tcA>tcT		aryl-hydrocarbon receptor nuclear translocator 2							183.0	157.0	166.0					15																	80866543		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80866543A>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1371A>T	15.37:g.80866543A>T						ARNT2_ENST00000303329.4_Silent_p.S457S|ARNT2_ENST00000527771.1_Silent_p.S446S	p.S446S			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		14	1677	+			457					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.1338A>T	CCDS32307.1																																																																																				0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			29	58	0	0	0	0.000409698	0	29	58				
SDK2	54549	broad.mit.edu	37	17	71334988	71334988	+	Missense_Mutation	SNP	G	G	A	rs201330590		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:71334988G>A	ENST00000392650.3	-	45	6257	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S2067L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2086					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCGCCGCCACGAGTTGTAGTA	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17803	0.0		0.0	False		,,,				2504	0.0					ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6256-6258)tCg>tTg		sidekick cell adhesion molecule 2							171.0	145.0	154.0					17																	71334988		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71334988G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6257C>T	17.37:g.71334988G>A	ENSP00000376421:p.Ser2086Leu					SDK2_ENST00000388726.3_Missense_Mutation_p.S2067L|SDK2_ENST00000410094.1_5'UTR	p.S2086L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			45	6257	-			2086					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6257C>T	CCDS45769.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.8	5.039889	0.93630	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.74842	-0.83;-0.88;0.23	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70935	0.936;0.971	D	0.87423	0.2383	10	0.87932	D	0	.	17.3228	0.87240	0.0:0.0:1.0:0.0	.	2086;2067	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	L	1710;2086;2067;1243;2086;427	ENSP00000376421:S2086L;ENSP00000373378:S2067L;ENSP00000407098:S1243L	ENSP00000324967:S2086L	S	-	2	0	SDK2	68846583	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	9.610000	0.98337	2.172000	0.68678	0.655000	0.94253	TCG		0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		14	40	0	0	0	0.000422831	0	14	40				
COL15A1	1306	broad.mit.edu	37	9	101785643	101785643	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101785643G>T	ENST00000375001.3	+	14	2189	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	589	Nonhelical region 2 (NC2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGCAGGAGCAGAAGCA	0.547																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1765-1767)gGa>gTa		collagen, type XV, alpha 1							58.0	58.0	58.0					9																	101785643		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101785643G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1766G>T	9.37:g.101785643G>T	ENSP00000364140:p.Gly589Val						p.G589V	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			14	2189	+		Acute lymphoblastic leukemia(62;0.0562)	589			Nonhelical region 2 (NC2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1766G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	5.774	0.327203	0.10900	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89552	-2.53	3.64	0.748	0.18376	.	2.825870	0.01598	N	0.021884	T	0.78984	0.4370	N	0.22421	0.69	0.09310	N	0.999999	P	0.41313	0.745	B	0.35655	0.207	T	0.69075	-0.5241	10	0.10636	T	0.68	4.0824	6.122	0.20157	0.3389:0.0:0.6611:0.0	.	589	P39059	COFA1_HUMAN	V	589;559	ENSP00000364140:G589V	ENSP00000364140:G589V	G	+	2	0	COL15A1	100825464	0.004000	0.15560	0.000000	0.03702	0.304000	0.27724	-0.363000	0.07593	0.162000	0.19483	0.462000	0.41574	GGA		0.547	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		25	43	1	0	6.32553e-13	9.22233e-05	1.66397e-11	25	43				
ELAVL4	1996	broad.mit.edu	37	1	50642827	50642827	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:50642827C>T	ENST00000371823.4	+	3	541	c.317C>T	c.(316-318)aCt>aTt	p.T106I	ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371824.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000492299.1_3'UTR|RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	106	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCATCAACACTTTAAATGGA	0.398																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(316-318)aCt>aTt		ELAV like neuron-specific RNA binding protein 4							100.0	92.0	95.0					1																	50642827		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642827C>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.317C>T	1.37:g.50642827C>T	ENSP00000360888:p.Thr106Ile					ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I	p.T106I			P26378	ELAV4_HUMAN			3	574	+			106			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.317C>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202610	0.58234	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	L	0.41027	1.25	0.80722	D	1	B;P;P;B;B;B;B	0.43607	0.127;0.69;0.812;0.127;0.104;0.059;0.127	B;B;B;B;B;B;B	0.43413	0.092;0.419;0.294;0.092;0.055;0.057;0.092	T	0.00534	-1.1684	10	0.66056	D	0.02	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	111;111;106;106;123;106;109	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	I	109;106;123;106;106;111;111	ENSP00000399939:T109I;ENSP00000360892:T106I;ENSP00000349594:T123I;ENSP00000360889:T106I;ENSP00000360888:T106I;ENSP00000360886:T111I;ENSP00000360884:T111I	ENSP00000349594:T123I	T	+	2	0	ELAVL4	50415414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.861000	0.98227	0.655000	0.94253	ACT		0.398	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		22	47	0	0	0	0.000295444	0	22	47				
CDH3	1001	broad.mit.edu	37	16	68713813	68713813	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr16:68713813T>C	ENST00000264012.4	+	7	1347	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	268	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCACACGACCTCATGTTCACC	0.552																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(802-804)cTc>cCc		cadherin 3, type 1, P-cadherin (placental)							204.0	146.0	165.0					16																	68713813		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68713813T>C	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.803T>C	16.37:g.68713813T>C	ENSP00000264012:p.Leu268Pro					CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	p.L268P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	7	1347	+		Ovarian(137;0.0564)	268			Cadherin 2.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.803T>C	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	T	8.393	0.840138	0.16891	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.51071	0.72;0.72	5.18	2.75	0.32379	Cadherin (4);Cadherin-like (1);	0.227351	0.22575	N	0.058298	T	0.22859	0.0552	N	0.04245	-0.25	0.58432	D	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.04621	-1.0938	10	0.59425	D	0.04	.	6.0144	0.19594	0.1907:0.0:0.1367:0.6726	.	268	P22223	CADH3_HUMAN	P	268;268;213	ENSP00000398485:L268P;ENSP00000264012:L268P	ENSP00000264012:L268P	L	+	2	0	CDH3	67271314	0.989000	0.36119	0.997000	0.53966	0.058000	0.15608	3.747000	0.55134	0.770000	0.33336	0.528000	0.53228	CTC		0.552	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		4	98	0	0	0	0.00024832	0	4	98				
TOPBP1	11073	broad.mit.edu	37	3	133342926	133342926	+	Silent	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr3:133342926T>C	ENST00000260810.5	-	17	3029	c.2898A>G	c.(2896-2898)gtA>gtG	p.V966V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	966	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAACAATGTGTACTCCTCTTT	0.383								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2896-2898)gtA>gtG	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							124.0	118.0	120.0					3																	133342926		1855	4076	5931	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133342926T>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2898A>G	3.37:g.133342926T>C							p.V966V	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN			17	3029	-			966			BRCT 6.		B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.2898A>G	CCDS46919.1																																																																																				0.383	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		21	43	0	0	0	0.000229342	0	21	43				
FAM188B	84182	broad.mit.edu	37	7	30825445	30825445	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr7:30825445C>T	ENST00000265299.6	+	4	577	c.500C>T	c.(499-501)aCg>aTg	p.T167M	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	167										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCATGCAGACGGTCCCGGGT	0.458																																						ENST00000265299.6																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(499-501)aCg>aTg		family with sequence similarity 188, member B							103.0	107.0	106.0					7																	30825445		1864	4117	5981	SO:0001583	missense	84182							g.chr7:30825445C>T	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.500C>T	7.37:g.30825445C>T	ENSP00000265299:p.Thr167Met					INMT-FAM188B_ENST00000458257.1_3'UTR	p.T167M	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN			4	577	+			167					Q71AZ7|Q9H6D2	Missense_Mutation	SNP	ENST00000265299.6	37	c.500C>T	CCDS43565.1	.	.	.	.	.	.	.	.	.	.	C	2.990	-0.208276	0.06180	.	.	ENSG00000106125	ENST00000265299	T	0.25085	1.82	5.19	-3.35	0.04928	.	1.455150	0.04142	N	0.319726	T	0.19805	0.0476	L	0.27053	0.805	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.39333	-0.9619	10	0.87932	D	0	-19.3987	11.1119	0.48237	0.0:0.3278:0.0:0.6722	.	167	Q4G0A6	F188B_HUMAN	M	167	ENSP00000265299:T167M	ENSP00000265299:T167M	T	+	2	0	FAM188B	30791970	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.734000	0.04893	-0.998000	0.03446	-0.142000	0.14014	ACG		0.458	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222		60	97	0	0	0	0.000147903	0	60	97				
ANAPC1	64682	broad.mit.edu	37	2	112620054	112620054	+	Missense_Mutation	SNP	T	T	C	rs540910667		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr2:112620054T>C	ENST00000341068.3	-	10	1946	c.1174A>G	c.(1174-1176)Aat>Gat	p.N392D		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AAGGAGCCATTAGAATTACTA	0.378													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19170	0.0		0.0	False		,,,				2504	0.0					ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1174-1176)Aat>Gat		anaphase promoting complex subunit 1							55.0	51.0	52.0					2																	112620054		2202	4300	6502	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112620054T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1174A>G	2.37:g.112620054T>C	ENSP00000339109:p.Asn392Asp						p.N392D	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			10	1946	-			392					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1174A>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695732	0.48202	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.64	4.49	0.54785	.	0.000000	0.38436	U	0.001691	T	0.35970	0.0950	L	0.44542	1.39	0.31381	N	0.678989	B	0.26002	0.139	B	0.19946	0.027	T	0.35325	-0.9793	9	0.24483	T	0.36	-18.6633	9.7104	0.40243	0.0:0.0781:0.0:0.9219	.	392	Q9H1A4	APC1_HUMAN	D	392	.	ENSP00000339109:N392D	N	-	1	0	ANAPC1	112336525	0.976000	0.34144	0.787000	0.31911	0.997000	0.91878	5.022000	0.64078	2.137000	0.66172	0.533000	0.62120	AAT		0.378	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	24	0	0	0	8.12818e-05	0	6	24				
ROBO2	6092	broad.mit.edu	37	3	77614158	77614158	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr3:77614158T>A	ENST00000461745.1	+	12	2636	c.1736T>A	c.(1735-1737)cTc>cAc	p.L579H	ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H|ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	579	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGACCACCCTCTATACTGTA	0.463																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1735-1737)cTc>cAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							81.0	80.0	81.0					3																	77614158		1977	4168	6145	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614158T>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1736T>A	3.37:g.77614158T>A	ENSP00000417164:p.Leu579His					ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H|ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H	p.L579H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2636	+			579			Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1736T>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591313	0.28357	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.56776	0.44;0.44;0.44	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40222	N	0.001155	T	0.35219	0.0924	N	0.02674	-0.535	0.40650	D	0.982028	B;B;B	0.30664	0.176;0.289;0.176	B;B;B	0.42522	0.39;0.328;0.39	T	0.53947	-0.8366	9	0.27785	T	0.31	.	11.5561	0.50748	0.0:0.0688:0.0:0.9312	.	595;579;579	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	595;595;599;579;579;300	ENSP00000417335:L595H;ENSP00000417164:L579H;ENSP00000327536:L579H	ENSP00000327536:L579H	L	+	2	0	ROBO2	77696848	1.000000	0.71417	0.999000	0.59377	0.343000	0.28985	4.307000	0.59123	2.304000	0.77564	0.528000	0.53228	CTC		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		33	44	0	0	0	0.000339439	0	33	44				
GRK1	6011	broad.mit.edu	37	13	114325879	114325879	+	Missense_Mutation	SNP	C	C	T	rs572803634	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr13:114325879C>T	ENST00000335678.6	+	3	1125	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> M. {ECO:0000269|PubMed:9268593}.		negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.T298M(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTCTTCTACACGGCGCAGATC	0.632													c|||	4	0.000798722	0.0	0.0014	5008	,	,		20021	0.003		0.0	False		,,,				2504	0.0					ENST00000335678.6																			1	Substitution - Missense(1)	p.T298M(1)	large_intestine(1)	ovary(2)	2						c.(892-894)aCg>aTg		G protein-coupled receptor kinase 1							38.0	43.0	42.0					13																	114325879		2062	4203	6265	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114325879C>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.893C>T	13.37:g.114325879C>T	ENSP00000334876:p.Thr298Met						p.T298M	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		3	1125	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	298		T -> M (in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance).	Protein kinase.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.893C>T		.	.	.	.	.	.	.	.	.	.	c	14.31	2.498033	0.44455	.	.	ENSG00000185974	ENST00000335678	T	0.64085	-0.08	4.43	3.29	0.37713	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.224065	0.45867	D	0.000332	T	0.68302	0.2986	.	.	.	0.36088	D	0.84322	D	0.56521	0.976	P	0.56474	0.799	T	0.76222	-0.3038	9	0.87932	D	0	-14.3093	7.8935	0.29693	0.0:0.8345:0.0:0.1655	.	298	Q15835	RK_HUMAN	M	298	ENSP00000334876:T298M	ENSP00000334876:T298M	T	+	2	0	GRK1	113373880	0.019000	0.18553	0.984000	0.44739	0.670000	0.39368	2.143000	0.42187	2.148000	0.66965	0.506000	0.49869	ACG		0.632	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		13	43	0	0	0	0.000219431	0	13	43				
MECOM	2122	broad.mit.edu	37	3	168810878	168810878	+	Missense_Mutation	SNP	G	G	A	rs540158912		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr3:168810878G>A	ENST00000464456.1	-	12	3641	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L	MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L|MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L|MECOM_ENST00000433243.2_Missense_Mutation_p.S824L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGAGGCGACGATGTTGCTGT	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.001					ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2440-2442)tCg>tTg		MDS1 and EVI1 complex locus							105.0	94.0	98.0					3																	168810878		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168810878G>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2441C>T	3.37:g.168810878G>A	ENSP00000419770:p.Ser814Leu					MECOM_ENST00000433243.2_Missense_Mutation_p.S824L|MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L	p.S814L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			12	3641	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2441C>T	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413161	0.62511	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07688	3.22;3.21;3.18;3.31;3.17;3.21;3.17;3.31	5.55	5.55	0.83447	.	0.659476	0.13721	N	0.367351	T	0.24198	0.0586	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.997;1.0;0.993	D;D;D;D;P	0.83275	0.941;0.996;0.914;0.996;0.874	T	0.01074	-1.1460	10	0.72032	D	0.01	-7.4309	19.5152	0.95160	0.0:0.0:1.0:0.0	.	1011;815;1002;888;823	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	L	888;823;814;824;1002;823;814;824	ENSP00000264674:S888L;ENSP00000376493:S823L;ENSP00000419770:S814L;ENSP00000420048:S824L;ENSP00000417899:S1002L;ENSP00000419995:S823L;ENSP00000420466:S814L;ENSP00000394302:S824L	ENSP00000264674:S888L	S	-	2	0	MECOM	170293572	1.000000	0.71417	0.806000	0.32338	0.022000	0.10575	9.383000	0.97214	2.615000	0.88500	0.460000	0.39030	TCG		0.388	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		39	64	0	0	0	0.000319135	0	39	64				
GGT1	2678	broad.mit.edu	37	22	24982284	24982284	+	Intron	SNP	C	C	T	rs376304947		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr22:24982284C>T	ENST00000248923.4	+	1	59				FAM211B_ENST00000318753.8_Missense_Mutation_p.R173H|FAM211B_ENST00000495297.1_5'Flank	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCTCAGGTAGCGTGTGATGTG	0.627																																						ENST00000318753.8																			0											c.(517-519)cGc>cAc		family with sequence similarity 211, member B		C	,HIS/ARG	2,4374	4.2+/-10.8	0,2,2186	136.0	150.0	145.0		,518	-1.3	0.2	22		145	0,8570		0,0,4285	no	intron,missense	GGT1,C22orf36	NM_013430.2,NM_207644.2	,29	0,2,6471	TT,TC,CC		0.0,0.0457,0.0154	,benign	,173/316	24982284	2,12944	2188	4285	6473	SO:0001627	intron_variant	388886							g.chr22:24982284C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2508C>T	22.37:g.24982284C>T						GGT1_ENST00000248923.4_Intron	p.R173H	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN			4	541	-			173					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.518G>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	4.254	0.046256	0.08243	4.57E-4	0.0	ENSG00000178026	ENST00000318753	T	0.29917	1.55	3.35	-1.31	0.09230	.	0.598985	0.16523	N	0.210739	T	0.10294	0.0252	N	0.04880	-0.145	0.22866	N	0.99864	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	10	0.15499	T	0.54	-14.6243	3.9091	0.09196	0.1677:0.4057:0.0:0.4266	.	173	Q2VPJ9	LRC6X_HUMAN	H	173	ENSP00000320520:R173H	ENSP00000320520:R173H	R	-	2	0	C22orf36	23312284	0.058000	0.20735	0.250000	0.24296	0.001000	0.01503	-0.160000	0.10041	-0.066000	0.12998	-1.327000	0.01280	CGC		0.627	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		81	130	0	0	0	0.000147903	0	81	130				
ARHGEF18	23370	broad.mit.edu	37	19	7535101	7535101	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr19:7535101G>A	ENST00000359920.6	+	19	3692	c.3439G>A	c.(3439-3441)Ggg>Agg	p.G1147R	CTD-2207O23.3_ENST00000593531.1_Silent_p.P1104P|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G989R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1147	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCTCCTGCCCGGGCCCCCAGC	0.672																																						ENST00000359920.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23						c.(3439-3441)Ggg>Agg		Rho/Rac guanine nucleotide exchange factor (GEF) 18							26.0	34.0	31.0					19																	7535101		2199	4292	6491	SO:0001583	missense	23370				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr19:7535101G>A	AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.3439G>A	19.37:g.7535101G>A	ENSP00000352995:p.Gly1147Arg					CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.1104_1104insP|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G989R	p.G1147R	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN			19	3692	+		Renal(5;0.0902)	1147			Pro-rich.		A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	ENST00000359920.6	37	c.3439G>A	CCDS45946.1	.	.	.	.	.	.	.	.	.	.	G	6.285	0.420702	0.11928	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.29397	1.59;1.57	4.15	-2.66	0.06077	.	2.808600	0.01606	N	0.022266	T	0.13927	0.0337	N	0.22421	0.69	0.09310	N	1	P;B	0.35363	0.497;0.364	B;B	0.26969	0.075;0.034	T	0.06570	-1.0819	10	0.11794	T	0.64	-0.3727	1.3214	0.02117	0.2145:0.3575:0.2697:0.1584	.	989;1147	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	R	989;1147	ENSP00000319200:G989R;ENSP00000352995:G1147R	ENSP00000319200:G989R	G	+	1	0	ARHGEF18	7441101	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.349000	0.07731	-0.442000	0.07190	0.655000	0.94253	GGG		0.672	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436340.1	NM_015318		42	47	0	0	0	0.000589545	0	42	47				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		6	24	0	0	0	0.000157383	0	6	24				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	53	0	0	0	0.000295444	0	20	53				
SDK2	54549	broad.mit.edu	37	17	71334988	71334988	+	Missense_Mutation	SNP	G	G	A	rs201330590		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr17:71334988G>A	ENST00000392650.3	-	45	6257	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S2067L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2086					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCGCCGCCACGAGTTGTAGTA	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17803	0.0		0.0	False		,,,				2504	0.0					ENST00000392650.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(6256-6258)tCg>tTg		sidekick cell adhesion molecule 2							171.0	145.0	154.0					17																	71334988		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71334988G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6257C>T	17.37:g.71334988G>A	ENSP00000376421:p.Ser2086Leu					SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S2067L	p.S2086L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN			45	6257	-			2086					A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.6257C>T	CCDS45769.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	29.8	5.039889	0.93630	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.74842	-0.83;-0.88;0.23	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.85164	0.5634	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70935	0.936;0.971	D	0.87423	0.2383	10	0.87932	D	0	.	17.3228	0.87240	0.0:0.0:1.0:0.0	.	2086;2067	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	L	1710;2086;2067;1243;2086;427	ENSP00000376421:S2086L;ENSP00000373378:S2067L;ENSP00000407098:S1243L	ENSP00000324967:S2086L	S	-	2	0	SDK2	68846583	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	9.610000	0.98337	2.172000	0.68678	0.655000	0.94253	TCG		0.592	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		14	40	0	0	0	0.000422831	0	14	40				
ZBTB48	3104	broad.mit.edu	37	1	6648255	6648255	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr1:6648255A>T	ENST00000377674.4	+	8	1673	c.1515A>T	c.(1513-1515)caA>caT	p.Q505H		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	505					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGAACCCAAGGTGAGGTAC	0.622																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.e8+1		zinc finger and BTB domain containing 48							94.0	81.0	86.0					1																	6648255		2203	4300	6503	SO:0001630	splice_region_variant	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6648255A>T	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1516+1A>T	1.37:g.6648255A>T							p.Q505_splice	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	8	1673	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	505					Q5SY19	Splice_Site	SNP	ENST00000377674.4	37	c.1516_splice	CCDS84.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696053	0.68386	.	.	ENSG00000204859	ENST00000377674	T	0.07908	3.15	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.099205	0.64402	D	0.000001	T	0.13415	0.0325	N	0.12887	0.27	0.58432	D	0.999998	D	0.76494	0.999	D	0.70716	0.97	T	0.37361	-0.9709	10	0.29301	T	0.29	-16.2131	15.0522	0.71881	1.0:0.0:0.0:0.0	.	505	P10074	ZBT48_HUMAN	H	505	ENSP00000366902:Q505H	ENSP00000366902:Q505H	Q	+	3	2	ZBTB48	6570842	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.169000	0.64984	2.216000	0.71823	0.460000	0.39030	CAA		0.622	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341	Missense_Mutation	19	34	0	0	0	0.000132079	0	19	34				
ARNT2	9915	broad.mit.edu	37	15	80866543	80866543	+	Silent	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr15:80866543A>T	ENST00000303329.4	+	13	1536	c.1371A>T	c.(1369-1371)tcA>tcT	p.S457S	ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000533983.1_Silent_p.S446S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	457					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGATTGTCATCGTATGACT	0.483																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1336-1338)tcA>tcT		aryl-hydrocarbon receptor nuclear translocator 2							183.0	157.0	166.0					15																	80866543		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80866543A>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1371A>T	15.37:g.80866543A>T						ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000303329.4_Silent_p.S457S	p.S446S			Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		14	1677	+			457					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.1338A>T	CCDS32307.1																																																																																				0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			29	58	0	0	0	0.000409698	0	29	58				
SPAG5	10615	broad.mit.edu	37	17	26910636	26910636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr17:26910636G>A	ENST00000321765.5	-	15	2910	c.2578C>T	c.(2578-2580)Cag>Tag	p.Q860*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	860					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTTGCTCCTGGTTATCTGCT	0.468																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2578-2580)Cag>Tag		sperm associated antigen 5							156.0	137.0	144.0					17																	26910636		2203	4300	6503	SO:0001587	stop_gained	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26910636G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2578C>T	17.37:g.26910636G>A	ENSP00000323300:p.Gln860*						p.Q860*	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN			15	2910	-	Lung NSC(42;0.00431)		860					O95213|Q9BWE8|Q9NT17|Q9UFE6	Nonsense_Mutation	SNP	ENST00000321765.5	37	c.2578C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	44	10.625889	0.99440	.	.	ENSG00000076382;ENSG00000258472	ENST00000321765;ENST00000531839	.	.	.	5.89	3.76	0.43208	.	0.360056	0.24147	N	0.041109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.4051	12.2043	0.54342	0.0:0.3451:0.6549:0.0	.	.	.	.	X	860;265	.	ENSP00000431165:Q265X	Q	-	1	0	SPAG5;RP11-192H23.4	23934763	0.977000	0.34250	0.751000	0.31187	0.958000	0.62258	1.958000	0.40402	1.473000	0.48159	0.650000	0.86243	CAG		0.468	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		4	107	0	0	0	1.23904e-05	0	4	107				
NSA2	10412	broad.mit.edu	37	5	74066519	74066519	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr5:74066519A>C	ENST00000296802.5	+	4	775	c.406A>C	c.(406-408)Att>Ctt	p.I136L	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	136	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ATTAAAAGTTATTCGAACAGG	0.368																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(406-408)Att>Ctt		NSA2 ribosome biogenesis homolog (S. cerevisiae)							85.0	86.0	86.0					5																	74066519		2203	4300	6503	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74066519A>C	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.406A>C	5.37:g.74066519A>C	ENSP00000296802:p.Ile136Leu					NSA2_ENST00000513356.1_3'UTR	p.I136L	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN			4	775	+			136			Lys-rich.			Missense_Mutation	SNP	ENST00000296802.5	37	c.406A>C	CCDS4025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.37|12.37	1.917195|1.917195	0.33815|0.33815	.|.	.|.	ENSG00000164346|ENSG00000164346	ENST00000296802|ENST00000515524	T|.	0.28666|.	1.6|.	5.63|5.63	4.46|4.46	0.54185|0.54185	.|.	0.043820|.	0.85682|.	D|.	0.000000|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.05050|0.05050	-0.12|-0.12	0.50632|0.50632	D|D	0.99988|0.99988	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.08472|0.08472	-1.0720|-1.0720	10|5	0.16896|.	T|.	0.51|.	.|.	14.1705|14.1705	0.65506|0.65506	0.9356:0.0:0.0644:0.0|0.9356:0.0:0.0644:0.0	.|.	136|.	O95478|.	NSA2_HUMAN|.	L|S	136|44	ENSP00000296802:I136L|.	ENSP00000296802:I136L|.	I|Y	+|+	1|2	0|0	NSA2|NSA2	74102275|74102275	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.947000|0.947000	0.59692|0.59692	4.761000|4.761000	0.62243|0.62243	0.484000|0.484000	0.27630|0.27630	-1.162000|-1.162000	0.01777|0.01777	ATT|TAT		0.368	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		22	59	0	0	0	0.000375601	0	22	59				
NOS1AP	9722	broad.mit.edu	37	1	162313729	162313729	+	Silent	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr1:162313729A>G	ENST00000361897.5	+	6	960	c.558A>G	c.(556-558)ggA>ggG	p.G186G	NOS1AP_ENST00000530878.1_Silent_p.G181G|MIR556_ENST00000384996.1_RNA	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	186	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGAAGATGGAGAGAGCGAGA	0.587																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(556-558)ggA>ggG		nitric oxide synthase 1 (neuronal) adaptor protein							118.0	105.0	109.0					1																	162313729		2203	4300	6503	SO:0001819	synonymous_variant	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162313729A>G	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.558A>G	1.37:g.162313729A>G						NOS1AP_ENST00000530878.1_Silent_p.G181G	p.G186G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		6	960	+	all_hematologic(112;0.203)		186			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	c.558A>G	CCDS1237.1																																																																																				0.587	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		3	66	0	0	0	6.4e-05	0	3	66				
TMEM211	255349	broad.mit.edu	37	22	25331314	25331314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr22:25331314C>A	ENST00000423535.1	-	3	588	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*|TMEM211_ENST00000407886.1_Nonsense_Mutation_p.E126*			Q6ICI0	TM211_HUMAN	transmembrane protein 211	197						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTTCATTTCTGGCACAAAG	0.493																																						ENST00000407886.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(376-378)Gaa>Taa		transmembrane protein 211							86.0	86.0	86.0					22																	25331314		2203	4300	6503	SO:0001587	stop_gained	255349					integral to membrane		g.chr22:25331314C>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.589G>T	22.37:g.25331314C>A	ENSP00000387813:p.Glu197*					TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*|TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*	p.E126*			Q6ICI0	TM211_HUMAN			4	628	-			197						Nonsense_Mutation	SNP	ENST00000423535.1	37	c.376G>T		.	.	.	.	.	.	.	.	.	.	C	11.58	1.682301	0.29872	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	.	.	.	4.26	4.26	0.50523	.	0.198839	0.34110	N	0.004252	.	.	.	.	.	.	0.33356	D	0.571658	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.5777	8.2082	0.31467	0.0:0.892:0.0:0.108	.	.	.	.	X	126;197;126	.	ENSP00000372192:E126X	E	-	1	0	TMEM211	23661314	0.999000	0.42202	0.961000	0.40146	0.221000	0.24807	2.311000	0.43717	2.369000	0.80426	0.455000	0.32223	GAA		0.493	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		42	80	1	0	3.54909e-21	0.000589545	8.63264e-20	42	80				
FOXS1	2307	broad.mit.edu	37	20	30432472	30432472	+	Missense_Mutation	SNP	G	G	A	rs2296917		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr20:30432472G>A	ENST00000375978.3	-	1	948	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	292			P -> A (in dbSNP:rs2296917).		blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGTCAGTTGGCAGGGGCAGT	0.687																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(874-876)Cca>Tca		forkhead box S1							26.0	28.0	27.0					20																	30432472		2203	4299	6502	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432472G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.874C>T	20.37:g.30432472G>A	ENSP00000365145:p.Pro292Ser						p.P292S	NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN			1	948	-			292		P -> A (in dbSNP:rs2296917).			Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.874C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877852	0.33162	.	.	ENSG00000179772	ENST00000375978	D	0.92199	-2.99	4.52	4.52	0.55395	.	0.196433	0.25500	N	0.030256	D	0.82967	0.5152	L	0.27053	0.805	0.31334	N	0.684426	P	0.39480	0.675	B	0.33960	0.173	T	0.82849	-0.0254	10	0.44086	T	0.13	.	6.3456	0.21347	0.0985:0.1879:0.7136:0.0	.	292	O43638	FOXS1_HUMAN	S	292	ENSP00000365145:P292S	ENSP00000365145:P292S	P	-	1	0	FOXS1	29896133	0.994000	0.37717	1.000000	0.80357	0.869000	0.49853	0.952000	0.29149	2.341000	0.79615	0.448000	0.29417	CCA		0.687	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		5	40	0	0	0	1.23904e-05	0	5	40				
CEACAM20	125931	broad.mit.edu	37	19	45029262	45029262	+	RNA	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr19:45029262A>G	ENST00000454753.1	-	0	346							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGACTCCATACGGTACAAAG	0.587																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							100.0	106.0	104.0					19																	45029262		2097	4215	6312			125931					integral to membrane		g.chr19:45029262A>G	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029262A>G										Q6UY09	CEA20_HUMAN			0	346	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.587	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		35	85	0	0	0	0.000270559	0	35	85				
MCMBP	79892	broad.mit.edu	37	10	121595126	121595126	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr10:121595126C>T	ENST00000360003.3	-	14	1808	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	MCMBP_ENST00000369077.3_Missense_Mutation_p.V545M|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	547					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TTGTTCAGCACGGAAGGCAGC	0.418																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.(1639-1641)Gtg>Atg		minichromosome maintenance complex binding protein							121.0	116.0	117.0					10																	121595126		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121595126C>T	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1639G>A	10.37:g.121595126C>T	ENSP00000353098:p.Val547Met					MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.V545M	p.V547M	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			14	1808	-			547					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1639G>A	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282125	0.40394	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.32	3.35	0.38373	.	0.263716	0.38436	N	0.001693	T	0.31071	0.0785	L	0.53249	1.67	0.32772	N	0.503595	P	0.44309	0.832	B	0.37239	0.244	T	0.43750	-0.9372	9	0.31617	T	0.26	-16.9303	6.5399	0.22375	0.0:0.5735:0.2721:0.1543	.	547	Q9BTE3	MCMBP_HUMAN	M	547;545	.	ENSP00000353098:V547M	V	-	1	0	MCMBP	121585116	0.861000	0.29849	0.749000	0.31150	0.972000	0.66771	1.308000	0.33528	1.246000	0.43901	0.313000	0.20887	GTG		0.418	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		38	72	0	0	0	0.000228196	0	38	72				
MUC5B	727897	broad.mit.edu	37	11	1255481	1255481	+	Silent	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr11:1255481G>A	ENST00000529681.1	+	20	2482	c.2424G>A	c.(2422-2424)gcG>gcA	p.A808A	MUC5B_ENST00000447027.1_Silent_p.A811A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	808	TIL 3.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTCGGCGGGCACCCCTG	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2431-2433)gcG>gcA		mucin 5B, oligomeric mucus/gel-forming							13.0	16.0	15.0					11																	1255481		1957	4121	6078	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1255481G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2424G>A	11.37:g.1255481G>A						MUC5B_ENST00000529681.1_Silent_p.A808A	p.A811A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	20	2491	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	808	P -> L (in Ref. 2; AAC67545).		TIL 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.2433G>A	CCDS44515.2																																																																																				0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	16	0	0	0	0.000157383	0	6	16				
ALPI	248	broad.mit.edu	37	2	233322371	233322371	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr2:233322371G>A	ENST00000295463.3	+	6	822	c.745G>A	c.(745-747)Ggg>Agg	p.G249R		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	249					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGGCTGGACGGGAAGAACCT	0.622																																						ENST00000295463.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24						c.(745-747)Ggg>Agg		alkaline phosphatase, intestinal							63.0	63.0	63.0					2																	233322371		2203	4300	6503	SO:0001583	missense	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322371G>A	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.745G>A	2.37:g.233322371G>A	ENSP00000295463:p.Gly249Arg						p.G249R	NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	6	822	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	249					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	c.745G>A	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671447	0.47781	.	.	ENSG00000163295	ENST00000295463	D	0.98090	-4.71	5.17	-4.69	0.03299	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.463730	0.03690	N	0.246979	D	0.97436	0.9161	H	0.95745	3.715	0.09310	N	1	P	0.35684	0.515	B	0.34093	0.175	D	0.90962	0.4813	10	0.66056	D	0.02	.	6.8172	0.23837	0.0794:0.3163:0.4971:0.1072	.	249	P09923	PPBI_HUMAN	R	249	ENSP00000295463:G249R	ENSP00000295463:G249R	G	+	1	0	ALPI	233030615	0.009000	0.17119	0.000000	0.03702	0.018000	0.09664	0.920000	0.28705	-0.720000	0.04935	0.561000	0.74099	GGG		0.622	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631		14	40	0	0	0	0.000308642	0	14	40				
FLT3	2322	broad.mit.edu	37	13	28610092	28610092	+	Silent	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr13:28610092C>T	ENST00000241453.7	-	11	1479	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	FLT3_ENST00000380982.4_Silent_p.K466K|FLT3_ENST00000537084.1_Silent_p.K466K	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	466					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCTGAACACTTCTTCCAGG	0.423			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1396-1398)aaG>aaA		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						216.0	214.0	215.0					13																	28610092		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28610092C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1398G>A	13.37:g.28610092C>T						FLT3_ENST00000241453.7_Silent_p.K466K|FLT3_ENST00000537084.1_Silent_p.K466K	p.K466K			P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	11	1479	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	466					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.1398G>A	CCDS31953.1																																																																																				0.423	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			8	296	0	0	0	0.000442599	0	8	296				
COL15A1	1306	broad.mit.edu	37	9	101785643	101785643	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr9:101785643G>T	ENST00000375001.3	+	14	2189	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	589	Nonhelical region 2 (NC2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGCAGGAGCAGAAGCA	0.547																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1765-1767)gGa>gTa		collagen, type XV, alpha 1							58.0	58.0	58.0					9																	101785643		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101785643G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1766G>T	9.37:g.101785643G>T	ENSP00000364140:p.Gly589Val						p.G589V	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			14	2189	+		Acute lymphoblastic leukemia(62;0.0562)	589			Nonhelical region 2 (NC2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1766G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	5.774	0.327203	0.10900	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89552	-2.53	3.64	0.748	0.18376	.	2.825870	0.01598	N	0.021884	T	0.78984	0.4370	N	0.22421	0.69	0.09310	N	0.999999	P	0.41313	0.745	B	0.35655	0.207	T	0.69075	-0.5241	10	0.10636	T	0.68	4.0824	6.122	0.20157	0.3389:0.0:0.6611:0.0	.	589	P39059	COFA1_HUMAN	V	589;559	ENSP00000364140:G589V	ENSP00000364140:G589V	G	+	2	0	COL15A1	100825464	0.004000	0.15560	0.000000	0.03702	0.304000	0.27724	-0.363000	0.07593	0.162000	0.19483	0.462000	0.41574	GGA		0.547	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		25	43	1	0	6.32553e-13	9.22233e-05	1.49463e-11	25	43				
CLTCL1	8218	broad.mit.edu	37	22	19198013	19198013	+	Silent	SNP	T	T	C	rs372241985		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr22:19198013T>C	ENST00000263200.10	-	20	3144	c.3072A>G	c.(3070-3072)ctA>ctG	p.L1024L	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000353891.5_Silent_p.L1024L|CLTCL1_ENST00000427926.1_Silent_p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1024	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAGATTCTGTAGATTCCTGA	0.552			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3070-3072)ctA>ctG		clathrin, heavy chain-like 1							51.0	51.0	51.0					22																	19198013		2057	4195	6252	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19198013T>C		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3072A>G	22.37:g.19198013T>C						CLTCL1_ENST00000353891.5_Silent_p.L1024L|CLTCL1_ENST00000427926.1_Silent_p.L1024L	p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			20	3144	-	Colorectal(54;0.0993)		1024			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.3072A>G	CCDS46662.1																																																																																				0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	47	0	0	0	1.23904e-05	0	3	47				
ELAVL4	1996	broad.mit.edu	37	1	50642827	50642827	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr1:50642827C>T	ENST00000371823.4	+	3	541	c.317C>T	c.(316-318)aCt>aTt	p.T106I	ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371824.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000492299.1_3'UTR|RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	106	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCATCAACACTTTAAATGGA	0.398																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(316-318)aCt>aTt		ELAV like neuron-specific RNA binding protein 4							100.0	92.0	95.0					1																	50642827		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642827C>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.317C>T	1.37:g.50642827C>T	ENSP00000360888:p.Thr106Ile					ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000492299.1_3'UTR	p.T106I			P26378	ELAV4_HUMAN			3	574	+			106			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.317C>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202610	0.58234	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	L	0.41027	1.25	0.80722	D	1	B;P;P;B;B;B;B	0.43607	0.127;0.69;0.812;0.127;0.104;0.059;0.127	B;B;B;B;B;B;B	0.43413	0.092;0.419;0.294;0.092;0.055;0.057;0.092	T	0.00534	-1.1684	10	0.66056	D	0.02	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	111;111;106;106;123;106;109	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	I	109;106;123;106;106;111;111	ENSP00000399939:T109I;ENSP00000360892:T106I;ENSP00000349594:T123I;ENSP00000360889:T106I;ENSP00000360888:T106I;ENSP00000360886:T111I;ENSP00000360884:T111I	ENSP00000349594:T123I	T	+	2	0	ELAVL4	50415414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.861000	0.98227	0.655000	0.94253	ACT		0.398	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		22	47	0	0	0	0.000295444	0	22	47				
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T	rs199843390		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGCATGAACTTACGGAATCT	0.401																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195713385_195713386insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195713387_195713387dupT								NR_003264.2						0	176	-									RNA	INS	ENST00000427841.1	37																																																																																						0.401	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	9						4	9	---	---	---	---
DPY19L2P1	554236	broad.mit.edu	37	7	35145789	35145793	+	RNA	DEL	CTAAA	CTAAA	-	rs201156272|rs76141590	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:35145789_35145793delCTAAA	ENST00000436258.1	-	0	1553_1557							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTGACTATCTCTAAACTACTTAGGA	0.19														397	0.0792732	0.0295	0.0692	5008	,	,		16112	0.0675		0.1024	False		,,,				2504	0.1421					ENST00000436258.1																			0																																																			0							g.chr7:35145789_35145793delCTAAA	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35145789_35145793delCTAAA														0	1553_1557	-								B4E2E3	RNA	DEL	ENST00000436258.1	37																																																																																						0.190	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			2	4						2	4	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92406217	92406218	+	Frame_Shift_Ins	INS	-	-	T	rs149495064	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:92406217_92406218insT	ENST00000276609.3	+	18	2124_2125	c.1885_1886insT	c.(1885-1887)attfs	p.I629fs	SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.I629fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.I629fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGAA	0.342																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1885-1887)tttfs		solute carrier family 26 (anion exchanger), member 7																																				SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92406217_92406218insT	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1893dupT	8.37:g.92406225_92406225dupT	ENSP00000276609:p.Ile629fs					SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.F629fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.F629fs	p.F629fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		18	2124_2125	+			629			STAS.			Frame_Shift_Ins	INS	ENST00000276609.3	37	c.1885_1886insT	CCDS6254.1																																																																																				0.342	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			14	84						14	84	---	---	---	---
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcafs	p.S269fs	FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity (GO:0003824)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313																																						ENST00000343597.3																			3	Deletion - Frameshift(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)	kidney(2)|ovary(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						c.(805-807)tcfs		family with sequence similarity 111, member B																																				SO:0001589	frameshift_variant	374393						catalytic activity	g.chr11:58892377delA	BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.807delA	11.37:g.58892377delA	ENSP00000341565:p.Ser269fs					FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	p.S269fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN			4	998	+			269					B4E2G2|Q6P661	Frame_Shift_Del	DEL	ENST00000343597.3	37	c.807delA	CCDS7972.1																																																																																				0.313	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393974.1	NM_198947		7	36						7	36	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65273529	65273531	+	lincRNA	DEL	TTG	TTG	-			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:65273529_65273531delTTG	ENST00000534336.1	+	0	8297_8299					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ACAACACGTATTGTTTTCTCAGG	0.414																																						ENST00000534336.1																			0																																																			0							g.chr11:65273529_65273531delTTG	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273529_65273531delTTG								NR_002819.2						0	8297_8299	+									RNA	DEL	ENST00000534336.1	37																																																																																						0.414	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		21	66						21	66	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-	rs571846793		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		8	321						8	321	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25453558	25453560	+	RNA	DEL	CTT	CTT	-	rs71418028|rs71127038	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:25453558_25453560delCTT	ENST00000424208.1	+	0	2384				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-20_ENST00000365099.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNORD115-21_ENST00000362963.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CTTTGAGTGACTTCTTCTGCCCA	0.631														188	0.0375399	0.0976	0.0259	5008	,	,		15746	0.0		0.0338	False		,,,				2504	0.0072					ENST00000424208.1																			0																																																			0							g.chr15:25453558_25453560delCTT			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25453561_25453563delCTT						SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2384	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.631	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			3	3						3	3	---	---	---	---
MIB1	57534	broad.mit.edu	37	18	19395662	19395663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19395662_19395663insT	ENST00000261537.6	+	11	1829_1830	c.1565_1566insT	c.(1564-1569)gatttgfs	p.L523fs	MIB1_ENST00000578646.1_3'UTR|SNORA73_ENST00000363107.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	523					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAGTGCTGATTTGAATGCTC	0.411																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(1564-1566)gttfs		mindbomb E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19395662_19395663insT	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1568dupT	18.37:g.19395665_19395665dupT	ENSP00000261537:p.Leu523fs					MIB1_ENST00000578646.1_3'UTR	p.V522fs	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		11	1829_1830	+			522					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Frame_Shift_Ins	INS	ENST00000261537.6	37	c.1565_1566insT	CCDS11871.1																																																																																				0.411	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		21	61						21	61	---	---	---	---
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	lincRNA	INS	-	-	T	rs35369169|rs111867069|rs11408280	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						ggaccgggaaacagatgcttac	0.569													T|-|T|deletion	1366	0.272764	0.4244	0.1657	5008	,	,		18567	0.127		0.2455	False		,,,				2504	0.3221					ENST00000432910.1																			0																																																			0							g.chr20:58883399_58883400insT																													20.37:g.58883399_58883400insT								NR_046099.1						0	332	+									RNA	INS	ENST00000432910.1	37																																																																																						0.569	RP5-1043L13.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000079947.1			3	3						3	3	---	---	---	---
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					ENST00000408903.3																			0				endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)gggcgg>ggGGCgcgg		mutated in colorectal cancers																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22GR>GAR	NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	1	478_479	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377		5	10						5	10	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92406217	92406218	+	Frame_Shift_Ins	INS	-	-	T	rs149495064	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr8:92406217_92406218insT	ENST00000276609.3	+	18	2124_2125	c.1885_1886insT	c.(1885-1887)attfs	p.I629fs	SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.I629fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.I629fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGAA	0.342																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1885-1887)tttfs		solute carrier family 26 (anion exchanger), member 7																																				SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92406217_92406218insT	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1893dupT	8.37:g.92406225_92406225dupT	ENSP00000276609:p.Ile629fs					SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.F629fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.F629fs	p.F629fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		18	2124_2125	+			629			STAS.			Frame_Shift_Ins	INS	ENST00000276609.3	37	c.1885_1886insT	CCDS6254.1																																																																																				0.342	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			14	84						14	84	---	---	---	---
TYSND1	219743	broad.mit.edu	37	10	71905802	71905819	+	In_Frame_Del	DEL	CTCTCAGTTGATCCGCCT	CTCTCAGTTGATCCGCCT	-	rs370610523|rs572542997|rs562289648|rs553877350	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr10:71905802_71905819delCTCTCAGTTGATCCGCCT	ENST00000287078.6	-	1	523_540	c.524_541delAGGCGGATCAACTGAGAG	c.(523-543)gaggcggatcaactgagagcg>gcg	p.EADQLR175del	TYSND1_ENST00000335494.5_In_Frame_Del_p.EADQLR175del|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	175					protein homooligomerization (GO:0051260)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of fatty acid beta-oxidation (GO:0031998)	membrane (GO:0016020)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CAGCCCAGCGCTCTCAGTTGATCCGCCTCCTCGTCCTC	0.711														5	0.000998403	0.0008	0.0	5008	,	,		14648	0.002		0.0	False		,,,				2504	0.002					ENST00000287078.6																			0				endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						c.(523-543)gcg>g		trypsin domain containing 1			,	1,4251		0,1,2125					,	3.9	1.0			26	18,8216		0,18,4099	no	coding,coding	TYSND1	NM_173555.2,NM_001040273.1	,	0,19,6224	A1A1,A1R,RR		0.2186,0.0235,0.1522	,	,		19,12467				SO:0001651	inframe_deletion	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905802_71905819delCTCTCAGTTGATCCGCCT	BC016840	CCDS31213.1, CCDS31214.1	10q22.1	2009-11-06		2006-09-21	ENSG00000156521	ENSG00000156521			28531	protein-coding gene	gene with protein product		611017				17255948	Standard	NM_173555		Approved	MGC34695, NET41	uc001jqr.4	Q2T9J0	OTTHUMG00000018397	ENST00000287078.6:c.524_541delAGGCGGATCAACTGAGAG	10.37:g.71905802_71905819delCTCTCAGTTGATCCGCCT	ENSP00000287078:p.Glu175_Arg180del					TYSND1_ENST00000335494.5_In_Frame_Del_p.EADQLRA175del	p.EADQLRA175del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN			1	523_540	-			175					Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	In_Frame_Del	DEL	ENST00000287078.6	37	c.524_541delAGGCGGATCAACTGAGAG	CCDS31213.1																																																																																				0.711	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555		3	4						3	4	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65273529	65273531	+	lincRNA	DEL	TTG	TTG	-			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr11:65273529_65273531delTTG	ENST00000534336.1	+	0	8297_8299					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ACAACACGTATTGTTTTCTCAGG	0.414																																						ENST00000534336.1																			0																																																			0							g.chr11:65273529_65273531delTTG	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273529_65273531delTTG								NR_002819.2						0	8297_8299	+									RNA	DEL	ENST00000534336.1	37																																																																																						0.414	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		21	66						21	66	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-	rs571846793		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		8	321						8	321	---	---	---	---
MIB1	57534	broad.mit.edu	37	18	19395662	19395663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr18:19395662_19395663insT	ENST00000261537.6	+	11	1829_1830	c.1565_1566insT	c.(1564-1569)gatttgfs	p.L523fs	MIB1_ENST00000578646.1_3'UTR|SNORA73_ENST00000363107.1_RNA	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	523					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAGTGCTGATTTGAATGCTC	0.411																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(1564-1566)gttfs		mindbomb E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19395662_19395663insT	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1568dupT	18.37:g.19395665_19395665dupT	ENSP00000261537:p.Leu523fs					MIB1_ENST00000578646.1_3'UTR	p.V522fs	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		11	1829_1830	+			522					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Frame_Shift_Ins	INS	ENST00000261537.6	37	c.1565_1566insT	CCDS11871.1																																																																																				0.411	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		21	61						21	61	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		7	165						7	165	---	---	---	---
